CCDC51

protein-coding

coiled-coil domain containing 51

Gene summary

Enables mitochondrial ATP-gated potassium channel activity. Involved in cell volume homeostasis and mitochondrial potassium ion transmembrane transport. Located in mitochondrial inner membrane and nucleoplasm. Part of mitochondrial ATP-gated potassium channel complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001256964.2

Inheritance

—

ClinVar variants

U:67B:5

Top phenotype

Retinal dystrophy

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr3:48,432,164-48,440,456

External References & Databases

Ensembl (ENSG00000164051)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 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 CCDC51 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 64

not providedTotal: 3

Retinal dystrophyTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001256964.2. 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	1
missense			64 clinvar	2 clinvar	2 clinvar	68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	67	2	3	72

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001256964.2	RefSeq	NP_001243893.1	3	MANE Select
ENST00000395694.7	Ensembl	ENSP00000379047.2	3	MANE Select
NM_001256965.3	RefSeq	NP_001243894.1	2	Standard
NM_001256966.3	RefSeq	NP_001243895.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395694
Coding exons: 3
Length: 8293
Individuals with no LoFs: 124713
Homozygous LoFs: 0
Heterozygous LoFs: 85
Defined: 124798
p: 0.000341

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.08	190	237	0.803	0.0000134	2634
Missense (PolyPhen)		49	65.799	0.74469		765
Synonymous	0.934	82	93.5	0.877	0.00000489	887
Loss of Function	1.02	14	18.8	0.746	0.00000144	159

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000067	0.000065	rare
Latino/Admixed American	0.00064	0.00064	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00072	0.00072	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00023	0.00023	rare
South Asian	0.00049	0.00049	rare
Other	0.00083	0.00082	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.108

Intolerance Scores

RVIS EVS: 0.13
RVIS percentile EVS: 63.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.274

Gene Damage Prediction

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