ANKRD36C

protein-coding

ankyrin repeat domain 36C, the group of Ankyrin repeat domain containing

Gene summary

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

MANE transcript

NM_001393982.1

Inheritance

—

ClinVar variants

U:1B:25

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

Max pathogenic AF

—

Genomic locus

chr2:95,836,919-95,991,831

External References & Databases

Ensembl (ENSG00000174501)

Transcript & Mutation Effects

hg38 • Region Span ~154.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKRD36C variants in ClinVar

5 Conditions Cataloged

not providedTotal: 23

not specifiedTotal: 2

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

CIC-rearranged sarcomaTotal: 1

Peritoneal GliomatosisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393982.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				20 clinvar		20
missense				5 clinvar		5
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	1	25	0	26

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393982.1	RefSeq	NP_001380911.1	87	MANE Select
ENST00000295246.7	Ensembl	ENSP00000295246.7	87	MANE Select
NM_001310154.3	RefSeq	NP_001297083.1	88	Standard
ENST00000456556.5	Ensembl	ENSP00000403302.1	67	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

ion channel inhibitor activity

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium