Human Gene IGFBP7 (ENST00000295666.6_7) from GENCODE V45lift37
Description: Homo sapiens insulin like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. (from RefSeq NM_001553) RefSeq Summary (NM_001553): This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000295666.6_7 Gencode Gene: ENSG00000163453.11_9 Transcript (Including UTRs) Position: hg19 chr4:57,896,939-57,976,551 Size: 79,613 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr4:57,897,483-57,976,517 Size: 79,035 Coding Exon Count: 5
ID:IBP7_HUMAN DESCRIPTION: RecName: Full=Insulin-like growth factor-binding protein 7; Short=IBP-7; Short=IGF-binding protein 7; Short=IGFBP-7; AltName: Full=IGFBP-rP1; AltName: Full=MAC25 protein; AltName: Full=PGI2-stimulating factor; AltName: Full=Prostacyclin-stimulating factor; AltName: Full=Tumor-derived adhesion factor; Short=TAF; Flags: Precursor; FUNCTION: Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. SUBUNIT: May interact with VPS24/CHMP3; the relevance of such interaction however remains unclear. SUBCELLULAR LOCATION: Secreted. PTM: N-glycosylated. RNA EDITING: Modified_positions=78 , 95 ; Note=Partially edited. In the brain, position 78 is edited at about 55% and position 95 at about 31%.; DISEASE: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) [MIM:614224]: 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. Note=The disease is caused by variants affecting the gene represented in this entry. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp7/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16270
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Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001558 regulation of cell growth GO:0007155 cell adhesion GO:0007566 embryo implantation GO:0008285 negative regulation of cell proliferation GO:0009408 response to heat GO:0014070 response to organic cyclic compound 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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
