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protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Summary

Gene Symbol

POMGNT2

Aliases

AGO61
FLJ14566
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Organism

Homo sapiens (human)

External Links

NCBI Gene

84892

GGDB ID

gg235

HGNC

25902

mRNA

NM_032806

Protein

NP_116195

OMIM

614828

KEGG Gene ID

hsa:84892

PubChem

84892

Alliance of Genome Resources

HGNC:25902

JoGo

POMGNT2

TogoVar

POMGNT2

Annotation

Keyword

3D-structure
Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Limb-girdle muscular dystrophy
Lissencephaly
Proteomics identification
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8NAT1	Extracellular O-linked N-acetylglucosamine transferase-like Glycosyltransferase-like domain-containing protein 2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
neuron migration	ISS
protein O-linked glycosylation	TAS
protein O-linked glycosylation	IDA	23929950
protein O-linked glycosylation	IMP	27066570
protein O-linked mannosylation	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

cellular process [inference]

cell motility [inference]

cell migration [inference]

neuron migration

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	23929950 27066570
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

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GO Term	Evidence Code	PMID
protein binding	IPI	25416956
acetylglucosaminyltransferase activity	TAS
acetylglucosaminyltransferase activity	IDA	23929950
protein O-acetylglucosaminyltransferase activity	IDA	23929950
protein O-acetylglucosaminyltransferase activity	IMP	27066570

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

protein O-acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

protein O-acetylglucosaminyltransferase activity

catalytic activity, acting on a protein [inference]

protein O-acetylglucosaminyltransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 3** entries
Gene Ontology
protein O-acetylglucosaminyltransferase activity
protein O-linked mannosylation
transferase activity

Displaying **all 5** entries
InterPro
Fibronectin type III superfamily
Fibronectin type III
Glycosyltransferase 61, catalytic domain
Glycosyltransferase 61
Immunoglobulin-like fold

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 60 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:614830	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:618135	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8