GlyCosmos Portal

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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 **11 - 20** of **215** in total

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DO ID	Disease Name	Source
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050663	Bethlem myopathy	DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET DisGeNET
DOID:0060249	scoliosis	DisGeNET DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET DisGeNET
DOID:0060278	pontocerebellar hypoplasia type 9	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **191** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000050	Hypoplastic male external genitalia
HP:0000054	Micropenis
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip

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 **1 - 10** of 67 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	37375	FB:FBgn0034567
Latimeria chalumnae	102354608		LATCH10430
Danio rerio	571426	ZFIN:ZDB-GENE-070412-4	DANRE09821
Ictalurus punctatus	108277811		ICTPU10772
Electrophorus electricus	113579447		ELEEL24133
Salmo salar	106612391		SALSA141488
Gadus morhua	115528948		GADMO19771
Oryzias latipes	101164830		ORYLA03404
Oreochromis niloticus	100691656		ORENI17492
Sparus aurata	115594198		SPAAU17563

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