Gene: ENSG00000168509 (Homo sapiens)

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Gene Identifier
ENSG00000168509
Transcript Identifier
ENST00000336751
Gene Type
Coding gene
Location
1 : 146018077-146020231 : negative

Family Information

Homologous gene family
HOM03P014884
(6 genes in 3 species)
specific family
Orthologous gene family
ORTHO03P074116
(2 genes in 2 species)
specific family

Descriptions

gene_descr
hemochromatosis type 2 (juvenile)

Identifiers

Type Value
pidENSP00000337014
HGNC4887
UniprotQ6ZVN8
UniprotA0A024R4F5

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0030509
IMP, IGI
IBA
IEA
Genome ProjectBMP signaling pathway
GO:0030514
IEA
Genome Projectnegative regulation of BMP signaling pathway
GO:0045944
IDA
ISS
IEA
Genome Projectpositive regulation of transcription from RNA polymerase II promoter
GO:0000122
ISS
Genome Projectnegative regulation of transcription from RNA polymerase II promoter
GO:0006879
ISS
Genome Projectcellular iron ion homeostasis
GO:0007411
TAS
Genome Projectaxon guidance
GO:0016540
IMP
Genome Projectprotein autoprocessing
GO:0032924
IGI
Genome Projectactivin receptor signaling pathway
GO:0055072
IDA, IGI
Genome Projectiron ion homeostasis
GO:0071773
IMP
Genome Projectcellular response to BMP stimulus

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0015026
IDA
IBA
IEA
Genome Projectcoreceptor activity
GO:0001948
IPI
Genome Projectglycoprotein binding
GO:0005102
IPI
Genome Projectreceptor binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0036122
IPI
Genome ProjectBMP binding
GO:1990459
IPI
Genome Projecttransferrin receptor binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005615
IDA
IEA
Genome Projectextracellular space
GO:0009986
IEA
Genome Projectcell surface
GO:0016323
IEA
Genome Projectbasolateral plasma membrane
GO:0005886
IDA
IEA
Genome Projectplasma membrane
GO:0016020
IEA
Genome Projectmembrane
GO:0031225
IEA
Genome Projectanchored component of membrane
GO:0070724
IDA
Genome ProjectBMP receptor complex
GO:0098797
IDA
Genome Projectplasma membrane protein complex
GO:1990712
IDA
Genome ProjectHFE-transferrin receptor complex

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR009496Repulsive guidance molecule, C-terminal
IPR010536Repulsive guidance molecule, N-terminal

No MapMan annotations defined for this gene.