Gene: ENSG00000124479 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000124479
Transcript Identifier
ENST00000378062
Gene Type
Coding gene
Location
X : 43949799-43958645 : negative

Family Information

Homologous gene family
HOM03P044138
(2 genes in 2 species)
specific family

Descriptions

gene_descr
Norrie disease (pseudoglioma)

Identifiers

Type Value
pidENSP00000367301
HGNC7678
UniprotQ00604

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001890
IEA
Genome Projectplacenta development
GO:0007033
TAS
Genome Projectvacuole organization
GO:0007165
TAS
Genome Projectsignal transduction
GO:0007267
TAS
Genome Projectcell-cell signaling
GO:0007399
TAS
Genome Projectnervous system development
GO:0007601
TAS, IEA
Genome Projectvisual perception
GO:0007605
NAS
Genome Projectsensory perception of sound
GO:0008283
TAS
Genome Projectcell proliferation
GO:0016055
IDA
IEA
Genome ProjectWnt signaling pathway
GO:0035426
IEA
Genome Projectextracellular matrix-cell signaling
GO:0045893
IDA
Genome Projectpositive regulation of transcription, DNA-templated
GO:0050896
IEA
Genome Projectresponse to stimulus
GO:0051091
IEA
Genome Projectpositive regulation of sequence-specific DNA binding transcription factor activity
GO:0060070
IDA
Genome Projectcanonical Wnt signaling pathway
GO:0061299
IEA
Genome Projectretina vasculature morphogenesis in camera-type eye

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005109
IPI
Genome Projectfrizzled binding
GO:0005125
IEA
Genome Projectcytokine activity
GO:0005515
IPI
Genome Projectprotein binding
GO:0008083
TAS
Genome Projectgrowth factor activity
GO:0042803
IPI
Genome Projectprotein homodimerization activity

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005576
IEA
Genome Projectextracellular region
GO:0005615
IDA
TAS, IEA
Genome Projectextracellular space
GO:0009986
IDA
Genome Projectcell surface
GO:0031012
IDA
Genome Projectextracellular matrix

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR003064Norrie disease protein
IPR006207Cystine knot, C-terminal
IPR006208Glycoprotein hormone subunit beta, cystine knot

No MapMan annotations defined for this gene.