ANKRD33

protein-coding

ankyrin repeat domain 33, the group of Ankyrin repeat domain containing

Gene summary

Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II and skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C12orf7

MANE transcript

NM_182608.4

Inheritance

—

ClinVar variants

U:63B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.41

Max pathogenic AF

—

Genomic locus

chr12:51,888,009-51,891,727

External References & Databases

Ensembl (ENSG00000167612)

Transcript & Mutation Effects

hg38 • Region Span ~3.7 kb

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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 ANKRD33 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 65

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182608.4. 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			1 clinvar	3 clinvar		4
missense			62 clinvar	1 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	4	0	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182608.4	RefSeq	NP_872414.3	5	MANE Select
ENST00000301190.11	Ensembl	ENSP00000301190.6	5	MANE Select
NM_001130015.2	RefSeq	NP_001123487.1	4	Standard
NM_001304459.2	RefSeq	NP_001291388.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
skeletal muscle cell differentiation
negative regulation of transcription regulatory region DNA binding

Cellular Component

nucleus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301190
Coding exons: 5
Length: 3705
Individuals with no LoFs: 125561
Homozygous LoFs: 1
Heterozygous LoFs: 186
Defined: 125748
p: 0.000744

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.336	258	274	0.943	0.0000159	2874
Missense (PolyPhen)		92	102.96	0.89358		1070
Synonymous	-0.186	121	118	1.02	0.00000716	977
Loss of Function	-1.49	22	15.6	1.41	8.55e-7	148

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.0010	0.00099	rare
East Asian	0.0015	0.0015	notable
Finnish	0.00011	0.000092	rare
European (Non-Finnish)	0.00023	0.00022	rare
South Asian	0.0037	0.0037	notable
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation. {ECO:0000250|UniProtKB:Q8BXP5}.;

Intolerance Scores

LoFtool: 0.917
RVIS EVS: 1.11
RVIS percentile EVS: 92.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.122

Gene Damage Prediction

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