GlyCosmos Portal

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

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GO Term	Evidence Code	PMID
dystroglycan binding	IEA
laminin binding	IEA
metal ion binding	IEA
protein binding	IPI	27601598 29477842
phosphotransferase activity, for other substituted phosphate groups	IDA	26923585 27194101 29477842 31949166

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

extracellular matrix binding [inference]

laminin binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000181027

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

GlycoGene Database (GGDB)

GGDB ID

gg188

Gene Symbol

FKRP

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Rattus norvegicus	NP_001020849	NM_001025678
Drosophila melanogaster	NP_611531	NM_137687
Mus musculus	NP_775606	NM_173430

KEGG BRITE Database

Orthology

K19873

Name

fukutin-related protein [EC:2.7.8.-]

References

21886772

Disease

Disease Ontology

Displaying entries **161 - 170** of **215** in total

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DO ID	Disease Name	Source
DOID:11723	Duchenne muscular dystrophy	DisGeNET DisGeNET
DOID:11724	limb-girdle muscular dystrophy	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11830	myopia	DisGeNET
DOID:11832	visual epilepsy	DisGeNET
DOID:11984	hypertrophic cardiomyopathy	DisGeNET
DOID:12161	peripheral retinal degeneration	DisGeNET
DOID:5723	optic atrophy	DisGeNET
DOID:12270	coloboma	DisGeNET DisGeNET
DOID:12506	Bell's palsy	DisGeNET

The Human Phenotype Ontology

Displaying entries **131 - 140** of **191** in total

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HPO ID	HPO Term
HP:0003327	Axial muscle weakness
HP:0003394	Muscle spasm
HP:0003457	EMG abnormality
HP:0003458	EMG: myopathic abnormalities
HP:0003547	Shoulder girdle muscle weakness
HP:0003549	Abnormality of connective tissue
HP:0003551	Difficulty climbing stairs
HP:0003560	Muscular dystrophy
HP:0003577	Congenital onset
HP:0003623	Neonatal onset

Displaying **all 10** entries
Disease ID	Disease Name
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability
ORPHA:34515	autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:606612	muscular dystrophy-dystroglycanopathy type B5
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
ORPHA:370968	congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6
OMIM:236670	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:370959	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy with cerebellar involvement
OMIM:607155	autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:613153	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **41 - 50** of 67 in total

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Species	Gene ID	Orthologous MAtrix
Monodelphis domestica	100016806	MONDO25192
Pelodiscus sinensis	102456705	PELSI03969
Anolis carolinensis	100563173	ANOCA12746
Bos indicus x Bos taurus	113876305	BOBOX11727
Otolemur garnettii	100942757	OTOGA03840
Takifugu rubripes	101072335	TAKRU04230
Chinchilla lanigera	102017286	CHILA24569
Aotus nancymaae	105713085	AOTNA29118
Phascolarctos cinereus	110202395	PHACI28632
Saimiri boliviensis boliviensis	101031020	SAIBB33076

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements