Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	400916
Gene name	Coiled-coil-helix-coiled-coil-helix domain containing 10
Gene symbol	CHCHD10
Synonyms (NCBI Gene)	C22orf16FTDALS2IMMDMIX17AN27C7-4SMAJ
Chromosome	22
Chromosome location	22q11.23
Summary	This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyo

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Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050245	hsa-miR-25-3p	CLASH	23622248
MIRT048969	hsa-miR-92a-3p	CLASH	23622248
MIRT043230	hsa-miR-324-5p	CLASH	23622248
MIRT041543	hsa-miR-193b-3p	CLASH	23622248
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888615	hsa-miR-601	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888577	hsa-miR-1286	CLIP-seq
MIRT888578	hsa-miR-149	CLIP-seq
MIRT888579	hsa-miR-193a-3p	CLIP-seq
MIRT888580	hsa-miR-193b	CLIP-seq
MIRT888581	hsa-miR-25	CLIP-seq
MIRT888582	hsa-miR-302f	CLIP-seq
MIRT888583	hsa-miR-3064-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888586	hsa-miR-3151	CLIP-seq
MIRT888587	hsa-miR-3169	CLIP-seq
MIRT888588	hsa-miR-32	CLIP-seq
MIRT888589	hsa-miR-342-5p	CLIP-seq
MIRT888590	hsa-miR-363	CLIP-seq
MIRT888591	hsa-miR-367	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888594	hsa-miR-4299	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888596	hsa-miR-4447	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888598	hsa-miR-4456	CLIP-seq
MIRT888599	hsa-miR-4472	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888601	hsa-miR-4515	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888603	hsa-miR-4651	CLIP-seq
MIRT888604	hsa-miR-4664-5p	CLIP-seq
MIRT888605	hsa-miR-4687-3p	CLIP-seq
MIRT888606	hsa-miR-4694-5p	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888608	hsa-miR-4722-5p	CLIP-seq
MIRT888609	hsa-miR-4794	CLIP-seq
MIRT888610	hsa-miR-491-5p	CLIP-seq
MIRT888611	hsa-miR-539	CLIP-seq
MIRT888612	hsa-miR-548q	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888615	hsa-miR-601	CLIP-seq
MIRT888616	hsa-miR-608	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq
MIRT888618	hsa-miR-92a	CLIP-seq
MIRT888619	hsa-miR-92b	CLIP-seq
MIRT888576	hsa-miR-1225-5p	CLIP-seq
MIRT888584	hsa-miR-3126-3p	CLIP-seq
MIRT888585	hsa-miR-3132	CLIP-seq
MIRT888592	hsa-miR-3940-5p	CLIP-seq
MIRT888593	hsa-miR-4285	CLIP-seq
MIRT888595	hsa-miR-431	CLIP-seq
MIRT888597	hsa-miR-4451	CLIP-seq
MIRT888600	hsa-miR-4507	CLIP-seq
MIRT888602	hsa-miR-4527	CLIP-seq
MIRT888607	hsa-miR-4711-3p	CLIP-seq
MIRT888613	hsa-miR-592	CLIP-seq
MIRT888614	hsa-miR-599	CLIP-seq
MIRT888617	hsa-miR-635	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	26666268, 27499296, 30496485, 30530185
GO:0005634	Component	Nucleus	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20888800
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24934289
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	20888800
GO:0007006	Process	Mitochondrial membrane organization	ISS
GO:0007007	Process	Inner mitochondrial membrane organization	IMP	24934289, 26666268, 30092269
GO:0030322	Process	Stabilization of membrane potential	IEA
GO:0031930	Process	Mitochondria-nucleus signaling pathway	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IEA
GO:0061617	Component	MICOS complex	IDA	26666268
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:1903109	Process	Positive regulation of mitochondrial transcription	IEA

MIM	HGNC	e!Ensembl
615903	15559	ENSG00000250479

Q8WYQ3

Protein name

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (Protein N27C7-4)

Protein function

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06747	CHCH	102 → 134	CHCH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Higher expression is observed in heart and liver. {ECO:0000269|PubMed:24934289}.

Sequence

MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSA
VGHVMGSALTGAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLS
LCEGFSEALKQCKYYHGLSSLP

Sequence length

142

Interactions

View interactions

	KEGG
	Amyotrophic lateral sclerosis

617

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant mitochondrial myopathy with exercise intolerance	Pathogenic; Likely pathogenic	rs2145927350, rs587777574, rs730880030, rs730880031, rs730880033	RCV002037768 RCV000192232 RCV000804540 RCV001731148 RCV002285151
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Pathogenic; Likely pathogenic	rs2145927350, rs587777574, rs730880030	RCV002037768 RCV000128857 RCV000804540
Lower motor neuron syndrome with late-adult onset	Pathogenic; Likely pathogenic	rs2145927350, rs730880030, rs730880031	RCV002037768 RCV000804540 RCV000157070

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs730880032	-
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity	rs775332895	RCV002221211
Cervical cancer	Uncertain significance	rs1293883249	RCV005926385
CHCHD10-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs527737360, rs767301039, rs868345557, rs1259379217, rs1926804314, rs775332895, rs551521196, rs754027063, rs1297680297, rs753848957, rs2145928012, rs372342375, rs1252496774, rs761383051, rs138183274 View all (11 more)	RCV004756248 RCV003975806 RCV003395311 RCV003408075 RCV003900951 RCV003927730 RCV003955119 RCV004756548 RCV003899845 RCV003902035 RCV003904773 RCV003943931 RCV003932013 RCV003937395 RCV003925684 RCV003980009 RCV003915608 RCV003915609 RCV003900367 RCV003965390 RCV003965389 RCV004731010 RCV003411792 RCV003955739 RCV003897930 RCV003895595
Clear cell carcinoma of kidney	Likely benign	rs199579266	RCV005896945
Malignant tumor of esophagus	Benign	rs567239313	RCV005896946
Ovarian serous cystadenocarcinoma	Benign	rs567239313	RCV005896947
See cases	Uncertain significance	rs2145924139	RCV002252435
Uterine corpus endometrial carcinoma	Benign	rs567239313	RCV005896948

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholic Neuropathy	Associate	32437855
Alzheimer Disease	Associate	28069311
Amyotrophic Lateral Sclerosis	Associate	24934289, 25726362, 28069311, 29121267, 29519717, 29789341, 30014597, 30084972, 32437855
Amyotrophic lateral sclerosis 1	Associate	33749723
Cataract Nuclear Progressive	Associate	29540477
Deafness	Associate	30014597
Dementia	Associate	25726362
Facial Nerve Diseases	Associate	30293881
Frontotemporal Dementia	Associate	24934289, 25726362, 26344877, 28069311, 28749476, 29121267, 29519717, 30084972, 38320749
Hearing Loss Sensorineural	Associate	25726362
Hereditary Sensory and Motor Neuropathy	Associate	26666268
Immunoglobulin G4 Related Disease	Associate	30092269
Liver Neoplasms	Associate	29789341, 30084972, 32437855, 33749723, 38320749
Mitochondrial Diseases	Associate	24934289, 26666268, 29121267, 30014597, 30092269, 33749723
Mitochondrial Myopathies	Associate	25193783, 29519717
Motor Neuron Disease	Associate	30092269, 32437855
Muscular Atrophy Spinal	Associate	30092269, 30293881, 32437855
Muscular Diseases	Associate	30014597
Neurodegenerative Diseases	Associate	29540477, 30293881
Parkinson Disease	Associate	28069311, 29029963, 29519717, 30084972, 30530185, 32437855
Personality Disorders	Associate	29789341
Respiratory Distress Syndrome	Associate	30084972
Sleep Deprivation	Associate	25193783
Spinal Neoplasms	Associate	26666268

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)