ANXA11

Chr 10

annexin A11

Also known as: ALS23, ANX11, CAP-50, CAP50, IBMWMA

NCBI Gene: 311ENSG00000122359UniProt: P50995

This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAmyotrophic lateral sclerosis 23
UniProtInclusion body myopathy and brain white matter abnormalities

Clinical highlights

Gene-disease validity (ClinGen)
amyotrophic lateral sclerosis type 23 · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
40
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — ANXA11
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.67 (0.47–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.25Z-score
OE missense 1.04 (0.95–1.14)
311 obs / 298.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.47–0.98)
0≤0.351.4
Missense OE?1.04 (0.95–1.14)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 19 / 28.5Missense obs/exp: 311 / 298.9Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANXA11 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients