GlyCosmos Portal

Annotation

Keyword

3D-structure
Alternative splicing
Calcium
Cell membrane
Congenital myasthenic syndrome
Developmental protein
Differentiation
Disease variant
Disulfide bond
EGF-like domain
Extracellular matrix
Heparan sulfate
Laminin EGF-like domain
Metal-binding
Phosphoprotein
Reference proteome
Repeat
Signal
Synapse
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O00468

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
G protein-coupled acetylcholine receptor signaling pathway		9405491
cytoskeleton organization	IEA
positive regulation of transcription by RNA polymerase II	ISS
positive regulation of synaptic assembly at neuromuscular junction	ISS
synapse organization		9652404

GO Hierarchy

biological process

cellular process [inference]

signal transduction

G protein-coupled receptor signaling pathway [inference]

G protein-coupled acetylcholine receptor signaling pathway

postsynaptic signal transduction [inference]

acetylcholine receptor signaling pathway [inference]

G protein-coupled acetylcholine receptor signaling pathway

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

receptor clustering

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization

cell junction organization [inference]

synapse organization

neuromuscular junction development

membrane organization [inference]

neuronal ion channel clustering [inference]

clustering of voltage-gated sodium channels

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

receptor clustering

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

receptor clustering

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of growth [inference]

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of developmental growth [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of neuromuscular junction development [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of developmental process [inference]

regulation of developmental growth [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of cellular process [inference]

signal transduction

G protein-coupled receptor signaling pathway [inference]

G protein-coupled acetylcholine receptor signaling pathway

postsynaptic signal transduction [inference]

acetylcholine receptor signaling pathway [inference]

G protein-coupled acetylcholine receptor signaling pathway

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular component biogenesis [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of filopodium assembly [inference]

positive regulation of filopodium assembly

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

regulation of cell junction assembly [inference]

regulation of synapse assembly [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of nucleobase-containing compound metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular component biogenesis [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of neuromuscular junction development [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

regulation of cell projection assembly [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of filopodium assembly [inference]

positive regulation of filopodium assembly

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

regulation of plasma membrane bounded cell projection organization [inference]

regulation of plasma membrane bounded cell projection assembly [inference]

regulation of filopodium assembly [inference]

positive regulation of filopodium assembly

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

regulation of synapse organization [inference]

regulation of synapse assembly [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of neuromuscular junction development [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of neuromuscular junction development [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of plasma membrane bounded cell projection assembly [inference]

positive regulation of filopodium assembly

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of neuromuscular junction development [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of cell junction assembly [inference]

regulation of synapse assembly [inference]

regulation of synaptic assembly at neuromuscular junction [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

positive regulation of cell junction assembly [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

positive regulation of nervous system development [inference]

positive regulation of synapse assembly [inference]

positive regulation of synaptic assembly at neuromuscular junction

regulation of molecular function [inference]

positive regulation of molecular function [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

regulation of catalytic activity [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

regulation of hydrolase activity [inference]

regulation of GTPase activity [inference]

positive regulation of GTPase activity

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

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GO Term	Evidence Code	PMID
collagen-containing extracellular matrix	HDA IDA TAS	17628813 20551380 22261194 23658023 27068509 27559042 28675934
lysosomal lumen
extracellular exosome	HDA	19199708 20458337 23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular region

membrane [inference]

plasma membrane

cell junction [inference]

synapse

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Golgi lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

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GO Term	Evidence Code	PMID
structural constituent of cytoskeleton		9652404
sialic acid binding	ISS
protein binding	IPI	21078624 9417121
extracellular matrix structural constituent	RCA	20551380 27068509 27559042 28675934

GO Hierarchy

molecular function

structural molecule activity [inference]

binding [inference]

protein binding

proteoglycan binding [inference]

heparan sulfate proteoglycan binding

small molecule binding [inference]

organic acid binding [inference]

carboxylic acid binding [inference]

sialic acid binding

ion binding [inference]

anion binding [inference]

carboxylic acid binding [inference]

sialic acid binding

cation binding [inference]

metal ion binding [inference]

calcium ion binding

extracellular matrix binding [inference]

laminin binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

chondroitin sulfate binding

sialic acid binding

proteoglycan binding [inference]

heparan sulfate proteoglycan binding

sulfur compound binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000188157

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06254

Name

agrin

References

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050848	obstructive sleep apnea	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0110035	Alzheimer's disease 2	DisGeNET
DOID:0110037	Alzheimer's disease 5	DisGeNET
DOID:0110038	Alzheimer's disease 6	DisGeNET
DOID:0110039	Alzheimer's disease 7	DisGeNET
DOID:0110041	Alzheimer's disease 8	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000276	Long face
HP:0000308	Microretrognathia
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000496	Abnormality of eye movement
HP:0000508	Ptosis
HP:0000565	Esotropia

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:98913	postsynaptic congenital myasthenic syndrome
ORPHA:98914	obsolete presynaptic congenital myasthenic syndrome
OMIM:615120	congenital myasthenic syndrome 8

PubChem Disease

MedGen Diseases

Congenital myasthenic syndrome 8

OMIM Phenotypes

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

KEGG Diseases

Congenital myasthenic syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	3565243	WB:WBGene00018304
Callorhinchus milii	103187444		CALMI36764
Danio rerio	565373	ZFIN:ZDB-GENE-030131-1033	DANRE23955
Salmo trutta	115166082		SALTR86027
Salmo trutta	115168970		SALTR75277
Oreochromis niloticus	109196113		ORENI38708
Sparus aurata	115584465		SPAAU52529
Xenopus laevis	108696525	Xenbase:XB-GENE-6488235
Xenopus laevis	108697619	Xenbase:XB-GENE-17345505
Xenopus tropicalis	100492176	Xenbase:XB-GENE-953967

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Summary

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Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements