Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79714
Gene name	Coiled-coil domain containing 51
Gene symbol	CCDC51
Synonyms (NCBI Gene)	MITOK
Chromosome	3
Chromosome location	3p21.31

14 Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040894	hsa-miR-18a-3p	CLASH	23622248
MIRT869291	hsa-miR-138	CLIP-seq
MIRT869292	hsa-miR-370	CLIP-seq
MIRT869293	hsa-miR-4299	CLIP-seq
MIRT869294	hsa-miR-4710	CLIP-seq
MIRT869295	hsa-miR-4763-5p	CLIP-seq
MIRT869296	hsa-miR-4792	CLIP-seq
MIRT2194906	hsa-miR-3613-5p	CLIP-seq
MIRT869291	hsa-miR-138	CLIP-seq
MIRT869292	hsa-miR-370	CLIP-seq
MIRT869293	hsa-miR-4299	CLIP-seq
MIRT869294	hsa-miR-4710	CLIP-seq
MIRT869295	hsa-miR-4763-5p	CLIP-seq
MIRT869296	hsa-miR-4792	CLIP-seq

20 Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	31435016, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	3145016, 31435016
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IDA	31435016
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034705	Component	Potassium channel complex	IEA
GO:0062156	Function	Mitochondrial ATP-gated potassium channel activity	IDA	31435016
GO:0062156	Function	Mitochondrial ATP-gated potassium channel activity	IEA
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IDA	31435016
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IEA
GO:0062157	Component	Mitochondrial ATP-gated potassium channel complex	IPI	31435016
GO:0071805	Process	Potassium ion transmembrane transport	IDA	31435016
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0140141	Process	Mitochondrial potassium ion transmembrane transport	IDA	31435016

MIM	HGNC	e!Ensembl
618585	25714	ENSG00000164051

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	Q96ER9
Protein name	Mitochondrial potassium channel (MITOK) (Coiled-coil domain-containing protein 51)
Protein function	Pore-forming subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)) (PubMed:31435016). Together with ATP-binding subunit ABCB8/MITOSUR of the mitoK(ATP) channel, mediates ATP-dependent K(+) currents across the mitochondrial inner
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Isoform 1: Widely expressed (PubMed:31435016). Isoform 2: Expression is barely detectable (PubMed:31435016). {ECO:0000269\|PubMed:31435016}.
Sequence	MMGRSPGFAMQHIVGVPHVLVRRGLLGRDLFMTRTLCSPGPSQPGEKRPEEVALGLHHRL PALGRALGHSIQQRATSTAKTWWDRYEEFVGLNEVREAQGKVTEAEKVFMVARGLVREAR EDLEVHQAKLKEVRDRLDRVSREDSQYLELATLEHRMLQEEKRLRTAYLRAEDSEREKFS LFSAAVRESHEKERTRAERTKNWSLIGSVLGALIGVAGSTYVNRVRLQELKALLLEAQKG PVSLQEAIREQASSYSRQQRDLHNLMVDLRGLVHAAGPGQDSGSQAGSPPTRDRDVDVLS AALKEQLSHSRQVHSCLEGLREQLDGLEKTCSQMAGVVQLVKSAAHPGLVEPADGAMPSF LLEQGSMILALSDTEQRLEAQVNRNTIYSTLVTCVTFVATLPVLYMLFKAS
Sequence length	411
Interactions	View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Retinal dystrophy	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (9)
Heart Diseases	Heart disease	Pubtator	37401985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	28379216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	34360642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25443654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25443654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25443654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34360642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28379216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29034212		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with CCDC51 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for CCDC51.

Diseases Linked via Similar Genes Diseases curated for genes most similar to CCDC51 (see Related Genes above), that are NOT already directly curated for CCDC51 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to CCDC51.

CCDC51 (coiled-coil domain containing 51)

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