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 **1 - 10** of **215** in total

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DO ID	Disease Name	Source
DOID:0050453	lissencephaly	DisGeNET DisGeNET
DOID:0050463	campomelic dysplasia	DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	DisGeNET
DOID:0050560	Walker-Warburg syndrome	DisGeNET Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0080033	craniometaphyseal dysplasia	DisGeNET
DOID:0080092	myofibrillar myopathy 1	DisGeNET
DOID:0080094	myofibrillar myopathy 3	DisGeNET
DOID:0080102	congenital myopathy 4A	DisGeNET

The Human Phenotype Ontology

Displaying entries **61 - 70** of **191** in total

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HPO ID	HPO Term
HP:0001305	Dandy-Walker malformation
HP:0001315	Reduced tendon reflexes
HP:0001317	Abnormal cerebellum morphology
HP:0001319	Neonatal hypotonia
HP:0001320	Cerebellar vermis hypoplasia
HP:0001321	Cerebellar hypoplasia
HP:0001324	Muscle weakness
HP:0001328	Specific learning disability
HP:0001331	Absent septum pellucidum
HP:0001339	Lissencephaly

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 **11 - 20** of 67 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus laevis	108698503	Xenbase:XB-GENE-17338998
Xenopus tropicalis	100145309	Xenbase:XB-GENE-964270
Chrysemys picta bellii	101939213		CHRPI21632
Pseudonaja textilis	113446054		PSETE18986
Ornithorhynchus anatinus	100083058		ORNAN22483
Callithrix jacchus	100385568		CALJA23866
Cercocebus atys	105595190		CERAT28400
Macaca mulatta	716804		MACMU17987
Macaca nemestrina	105478591		MACNE39647
Papio anubis	101014394		PAPAN23094

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