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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC51
coiled-coil domain containing 51
Chromosome 3 · 3p21.31
NCBI Gene: 79714Ensembl: ENSG00000164051.15HGNC: HGNC:25714UniProt: Q96ER9
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial ATP-gated potassium channel activitycell volume homeostasispotassium ion transmembrane transportneurodegenerative diseaseAbnormality of the skeletal systemplacenta praeviaRetinal dystrophy
✦AI Summary

CCDC51 (also called MITOK) is a mitochondrial inner membrane protein that functions as the pore-forming subunit of the ATP-gated potassium channel (mitoK(ATP)) 1. Working together with the ATP-binding subunit ABCB8, CCDC51 mediates ATP-dependent K+ currents across the mitochondrial inner membrane, with increased intracellular ATP closing the channel and decreased ATP enhancing K+ uptake into the mitochondrial matrix 1. This ATP-sensing mechanism contributes to homeostatic control of cellular metabolism and mitochondrial matrix volume regulation under stress conditions 1. Beyond its ion channel function, CCDC51 plays a direct role in mitochondrial dynamics. CCDC51 is spatially and temporally localized to a subset of mitochondrial fission events and is functionally conserved with yeast Mdm33 23. CCDC51 depletion reduces mitochondrial fission rates, while overexpression promotes mitochondrial fragmentation through association with Drp1, indicating it acts as a positive effector of fission 3. Clinically, CCDC51 mutations have been associated with non-syndromic rod-cone dystrophy, with a homozygous frameshift variant identified in a consanguineous family patient 4. CCDC51 expression also associates with stemness features in lung squamous cell carcinoma and KATP channel expression changes in glioblastoma 56, suggesting roles in cancer biology and metabolic heterogeneity.

Sources cited
1
CCDC51 is the pore-forming subunit of mitoK(ATP) channel; mediates ATP-dependent K+ currents; regulates mitochondrial matrix volume homeostasis
PMID: 31435016
2
CCDC51 is functionally conserved with yeast Mdm33; localizes to mitochondrial fission events; alterations in CCDC51 levels affect mitochondrial morphology
PMID: 38562768
3
CCDC51 depletion reduces mitochondrial fission rates; overexpression promotes spatial association with Drp1 and mitochondrial fragmentation; acts as positive effector of fission
PMID: 39718510
4
Homozygous frameshift variant in CCDC51 (c.244_246delins17) identified in non-syndromic rod-cone dystrophy; CCDC51 localizes to retinal photoreceptor inner segments
PMID: 34360642
5
CCDC51 is part of a stemness-based signature associated with lung squamous cell carcinoma prognosis and therapy response
PMID: 37455452
6
CCDC51 is a mitochondrial KATP channel component whose expression is altered in response to MitoQ treatment in glioblastoma cells
PMID: 41910839
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.24Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
placenta praeviaOpen Targets
0.14Weak
Retinal dystrophyOpen Targets
0.14Weak
substance-related disorderOpen Targets
0.09Suggestive
MODYOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABCB8Protein interaction100%LRRC52Shared pathway50%LRRC26Shared pathway50%LRRC55Shared pathway50%LRRC38Shared pathway50%KCNK12Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Liver
87%
Lung
49%
Brain
42%
Ovary
39%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
CCDC51ABCB8LRRC52LRRC26LRRC55LRRC38KCNK12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96ER9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.70–1.26]
RankingsWhere CCDC51 stands among ~20K protein-coding genes
  • #11,124of 20,598
    Most Researched34
  • #13,309of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedCCDC51
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Human CCDC51 and yeast Mdm33 are functionally conserved mitochondrial inner membrane proteins that demarcate a subset of organelle fission events.
PMID: 38562768
bioRxiv · 2024
1.00
2
Functionally conserved inner mitochondrial membrane proteins CCDC51 and Mdm33 demarcate a subset of fission events.
PMID: 39718510
J Cell Biol · 2025
0.86
3
Proteomics reveals novel protein associations with early endosomes in an epidermal growth factor-dependent manner.
PMID: 29523688
J Biol Chem · 2018
0.71
4
Mutated
PMID: 34360642
Int J Mol Sci · 2021
0.57
5
Identification of Novel Stemness-based Subtypes and Construction of a Prognostic Risk Model for Patients with Lung Squamous Cell Carcinoma.
PMID: 37455452
Curr Stem Cell Res Ther · 2024
0.43