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

Gene

• Entrez ID: 400916
• Gene name: Coiled-coil-helix-coiled-coil-helix domain containing 10
• Gene symbol: CHCHD10
• Synonyms (NCBI Gene): C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ
• Disease Acronyms (UniProt): FTDALS2, IMMD, SMAJ
• 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

miRNA

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

Gene ontology (GO)

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	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	20888800
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24934289
GO:0006119	Process	Oxidative phosphorylation	IMP	20888800
GO:0007005	Process	Mitochondrion organization	IBA	21873635
GO:0007005	Process	Mitochondrion organization	IMP	20888800, 24934289, 30092269
GO:0007005	Process	Mitochondrion organization	ISS
GO:0030322	Process	Stabilization of membrane potential	ISS
GO:0051457	Process	Maintenance of protein location in nucleus	ISS
GO:0061617	Component	MICOS complex	IDA	26666268
GO:0065003	Process	Protein-containing complex assembly	IMP	26666268
GO:0090144	Process	Mitochondrial nucleoid organization	IMP	26666268
GO:0099558	Process	Maintenance of synapse structure	ISS
GO:1901030	Process	Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP	26666268, 30092269
GO:1903109	Process	Positive regulation of mitochondrial transcription	ISS
GO:1903852	Process	Positive regulation of cristae formation	IMP	26666268

Other IDs

• MIM: 615903
• HGNC: 15559
• e!Ensembl: ENSG00000250479

Protein

• UniProt ID: 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

Pathways

KEGG:

Amyotrophic lateral sclerosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic lateral sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	25261971, 25348633, 25113787, 25113788, 25348631, 25261972, 25155093
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Frontotemporal dementia	Frontotemporal dementia	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336
Frontotemporal dementia with or without amyotrophic lateral sclerosis	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	rs63751126, rs63750355, rs121909334, rs387906789, rs387906790, rs281864934, rs63750652, rs587777574, rs143561967, rs876657404, rs876657405, rs876657406, rs755950225, rs767898276, rs748112833, rs863225291, rs886040872, rs886040888, rs1555204731, rs1565814492, rs1328949478, rs1592362719, rs1592350883, rs1592350887, rs1341055534, rs1402092579, rs1284582102	25113787, 29789341, 24934289, 25193783, 29121267, 25261972, 29315381, 28585542, 25155093, 25576308, 25833818, 26152333, 25681414
Distal hereditary motor neuronopathy	Lower motor neuron syndrome with late-adult onset	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924
Mitochondrial myopathy	MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT	rs121434454	25193783, 29315381, 24934289, 25833818, 26152333, 29789341, 25681414, 25261972, 28585542, 25113787, 29121267
Mitochondrial myopathy with exercise intolerance	Autosomal dominant mitochondrial myopathy with exercise intolerance	rs587777574, rs730880031, rs730880033
Parkinson disease	Parkinsonian Disorders	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Spinal muscular atrophy	Spinal Muscular Atrophy, SPINAL MUSCULAR ATROPHY, JOKELA TYPE	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962	25428574, 28585542, 25261972, 25193783, 29789341, 25113787, 29121267, 29315381, 26152333, 25681414, 25833818

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Mitochondrial Diseases	mitochondrial disease			GenCC
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis			GenCC
Frontotemporal Dementia With Motor Neuron Disease	frontotemporal dementia with motor neuron disease			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
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