Entity Details

Primary name IGFBP7
Entity type gene
Source Source Link

Details

PrimaryID3490
RefseqGeneNG_031877
SymbolIGFBP7
Nameinsulin like growth factor binding protein 7
Chromosome4
Location4q12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIBP7_HUMAN

GO terms

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GOName
GO:0001558 regulation of cell growth
GO:0005520 insulin-like growth factor binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0007155 cell adhesion
GO:0007566 embryo implantation
GO:0008285 negative regulation of cell population proliferation
GO:0009408 response to heat
GO:0009966 regulation of signal transduction
GO:0032526 response to retinoic acid
GO:0032870 cellular response to hormone stimulus
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0050810 regulation of steroid biosynthetic process
GO:0051414 response to cortisol
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
614224 OMIMRetinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS)An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction. The disease is caused by variants affecting the gene represented in this entry.