ANXA10

Chr 4

annexin A10

Also known as: ANX14

NCBI Gene: 11199 ENSG00000109511 UniProt: Q9UJ72 OMIM: 608008

This gene encodes a member of the annexin family of calcium-dependent phospholipid-binding proteins involved in cellular growth regulation and signal transduction pathways, though its specific function remains undetermined. The gene is highly tolerant to loss-of-function variation based on population genetics data, and no established disease associations have been reported to date.

OMIM ResearchSummary from RefSeq

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. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ANXA10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

428 rare PASS variants

Rare truncating (LoF)

1 in 820

88 rare PASS variants

Rare synonymous (reference)

1 in 440

141 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANXA10. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 200	1 in 1,000
South Asian	~43k	1 in 220	1 in 350
Remaining (unassigned)	~30k	1 in 93	1 in 450
European (Finnish)	~27k	1 in 760	1 in 4,400
Admixed American	~22k	1 in 94	1 in 470
African / African American	~21k	1 in 130	1 in 490
East Asian	~20k	1 in 150	1 in 480
Ashkenazi Jewish	~13k	1 in 720	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 130	≈ 1 in 650

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.