ANKRD36C

Chr 2

ankyrin repeat domain 36C

NCBI Gene: 400986 ENSG00000174501 UniProt: Q5JPF3

The ANKRD36C protein is predicted to function as an ion channel inhibitor. Mutations in this gene have not been definitively associated with any recognized human diseases or clinical phenotypes in the current medical literature. The inheritance pattern and clinical significance of ANKRD36C variants remain to be established.

ResearchSummary from RefSeq

Predicted to enable ion channel inhibitor activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Multiplemechanism

Clinical Summary— ANKRD36C

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ClinVar Variants

1 VUS of 24 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.77top 25%

GOF

0.77top 25%

LOF

0.2969th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

24 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

Likely Benign22

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	1	0	1
Likely Benign	3	19	22
Benign	0	0	0
Total	4	19	23

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

20 pathogenic / likely-pathogenic (of 49) ClinVar copy-number / structural variants overlap ANKRD36C — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →