ANKRD26

Chr 10AD

ankyrin repeat domain 26

Also known as: THC2, bA145E8.1

NCBI Gene: 22852ENSG00000107890UniProt: Q9UPS8OMIM: 610855

This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Thrombocytopenia 2MIM #188000
AD

Clinical highlights

Gene-disease validity (ClinGen)
thrombocytopenia 2 · ADDefinitivesufficient evidence for diagnostic panels
1
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — ANKRD26
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 3.68
OE 0.58 (0.47–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.40Z-score
OE missense 1.04 (0.98–1.10)
855 obs / 823.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.58 (0.47–0.73)
0≤0.351.4
Missense OE?1.04 (0.98–1.10)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 53 / 90.9Missense obs/exp: 855 / 823.1Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD26 · protein map & ClinVar variants

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

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