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 **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 **161 - 170** of **191** in total

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HPO ID	HPO Term
HP:0007204	Diffuse white matter abnormalities
HP:0007256	Abnormal pyramidal sign
HP:0007260	Type II lissencephaly
HP:0007291	Posterior fossa cyst
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0007361	Abnormal pons morphology
HP:0007731	Chorioretinal dysplasia
HP:0007957	Corneal opacity
HP:0007973	Retinal dysplasia
HP:0008180	Mildly elevated creatine kinase

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 **21 - 30** of 67 in total

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Species	Gene ID	Orthologous MAtrix
Gorilla gorilla gorilla	101150963	GORGO14904
Pan troglodytes	746394	PANTR18735
Pongo abelii	100939505	PONAB14386
Canis lupus familiaris	484426	CANLF00895
Ursus americanus	123778747	URSAM31048
Mustela putorius furo	101672499	MUSPF06982
Felis catus	101099604	FELCA34586
Panthera leo	122207710	PANLE29028
Tursiops truncatus	117309102	TURTR03465
Balaenoptera musculus	118884528	BALMU16334

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