IGFBP7

Chr 4AR

insulin like growth factor binding protein 7

Also known as: AGM, FSTL2, IBP-7, IGFBP-7, IGFBP-7v, IGFBPRP1, MAC25, PSF

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinal arterial macroaneurysm with supravalvular pulmonic stenosisMIM #614224
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.001
Z-score 1.31
OE 0.57 (0.311.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.92 (0.791.07)
117 obs / 126.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.311.12)
00.351.4
Missense OE?0.92 (0.791.07)
00.61.4
Synonymous OE?0.66
01.21.6
LoF obs/exp: 6 / 10.6Missense obs/exp: 117 / 126.9Syn Z: 1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IGFBP7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →