ANKRD2

Chr 10

ankyrin repeat domain 2

Also known as: ARPP

NCBI Gene: 26287ENSG00000165887UniProt: Q9GZV1OMIM: 610734

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.80
OE 0.79 (0.52–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.15Z-score
OE missense 0.78 (0.69–0.89)
176 obs / 224.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.52–1.24)
0≤0.351.4
Missense OE?0.78 (0.69–0.89)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 14 / 17.6Missense obs/exp: 176 / 224.6Syn Z: 1.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD2 · 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