ANXA2

Chr 15

annexin A2

Also known as: ANX2, ANX2L4, CAL1H, HEL-S-270, LIP2, LPC2, LPC2D, P36

NCBI Gene: 302 ENSG00000182718 UniProt: P07355

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 as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]

Research

ResearchGenerating clinical summary…

Active trials

256

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.81LOEUF

pLI 0.000

Z-score 2.22

OE 0.48 (0.29–0.81)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.28Z-score

OE missense 0.94 (0.84–1.06)

186 obs / 197.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.29–0.81)

0≤0.351.4

Missense OE?0.94 (0.84–1.06)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 10 / 21.0Missense obs/exp: 186 / 197.2Syn Z: -1.06

Background carrier burden — how many people carry a rare variant somewhere in ANXA2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 96

482 rare PASS variants

Rare truncating (LoF)

1 in 1,800

73 rare PASS variants

Rare synonymous (reference)

1 in 140

206 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANXA2. 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 140	1 in 2,000
South Asian	~43k	1 in 76	1 in 1,700
Remaining (unassigned)	~30k	1 in 97	1 in 590
European (Finnish)	~27k	1 in 970	1 in 4,400
Admixed American	~22k	1 in 120	1 in 980
African / African American	~21k	1 in 140	1 in 1,000
East Asian	~20k	1 in 120	1 in 2,900
Ashkenazi Jewish	~13k	1 in 390	none seen
Middle Eastern	~2,884	1 in 100	≈ 1 in 880

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.

Exome coverage (gnomAD): 11 of 12 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 12.? see exons ↓