ANXA3

Chr 4

annexin A3

Also known as: ANX3

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
2
Active trials
50
Pubs (1 yr)
P/LP submissions
P/LP missense
1.26
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.000
Z-score 0.60
OE 0.86 (0.601.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.861.11)
166 obs / 170.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.601.26)
00.351.4
Missense OE?0.98 (0.861.11)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 19 / 22.1Missense obs/exp: 166 / 170.0Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANXA3 · protein map & ClinVar variants

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