Entity Details

Primary name IGSF1
Entity type gene
Source Source Link

Details

PrimaryID3547
RefseqGeneNG_021190
SymbolIGSF1
Nameimmunoglobulin superfamily member 1
ChromosomeX
LocationXq26.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIGSF1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005576 extracellular region
GO:0006355 regulation of transcription, DNA-templated
GO:0015026 coreceptor activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0034711 inhibin binding
GO:0038102 activin receptor antagonist activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
300888 OMIMHypothyroidism, central, and testicular enlargement (CHTE)A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

17 interactions