ANGPTL7

Chr 1

angiopoietin like 7

Also known as: AngX, CDT6, dJ647M16.1

Enables identical protein binding activity. Involved in negative regulation of vasculature development involved in avascular cornea development in camera-type eye and regulation of extracellular matrix organization. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
DNmechanismLOEUF 1.75
Clinical SummaryANGPTL7
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.75LOEUF
pLI 0.000
Z-score -0.97
OE 1.25 (0.891.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.13Z-score
OE missense 0.97 (0.871.09)
201 obs / 206.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.25 (0.891.75)
00.351.4
Missense OE?0.97 (0.871.09)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 22 / 17.6Missense obs/exp: 201 / 206.3Syn Z: -0.47

This gene — mechanism propensity

DN
0.6452th %ile
GOF
0.5954th %ile
LOF
0.3358th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANGPTL7 · 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 →