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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51142
Gene name	Coiled-coil-helix-coiled-coil-helix domain containing 2
Gene symbol	CHCHD2
Synonyms (NCBI Gene)	C7orf17MIX17BMNRR1NS2TPPARK22
Chromosome	7
Chromosome location	7p11.2
Summary	The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress,

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750014782	C>T	Pathogenic	Intron variant
rs752169833	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs864309650	G>A	Pathogenic	Coding sequence variant, missense variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049175	hsa-miR-92a-3p	CLASH	23622248
MIRT046923	hsa-miR-221-3p	CLASH	23622248
MIRT041949	hsa-miR-484	CLASH	23622248
MIRT036288	hsa-miR-1229-3p	CLASH	23622248
MIRT036209	hsa-miR-320b	CLASH	23622248
MIRT440952	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440952	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT888635	hsa-miR-139-5p	CLIP-seq
MIRT888636	hsa-miR-186	CLIP-seq
MIRT888637	hsa-miR-3144-3p	CLIP-seq
MIRT888638	hsa-miR-3160-3p	CLIP-seq
MIRT888639	hsa-miR-3163	CLIP-seq
MIRT888640	hsa-miR-3173-3p	CLIP-seq
MIRT888641	hsa-miR-3545-3p	CLIP-seq
MIRT888642	hsa-miR-3925-3p	CLIP-seq
MIRT888643	hsa-miR-409-5p	CLIP-seq
MIRT888644	hsa-miR-4286	CLIP-seq
MIRT888645	hsa-miR-4428	CLIP-seq
MIRT888646	hsa-miR-4477b	CLIP-seq
MIRT888647	hsa-miR-4668-3p	CLIP-seq
MIRT888648	hsa-miR-4695-5p	CLIP-seq
MIRT888649	hsa-miR-4712-3p	CLIP-seq
MIRT888650	hsa-miR-4717-5p	CLIP-seq
MIRT888651	hsa-miR-4719	CLIP-seq
MIRT888652	hsa-miR-4768-3p	CLIP-seq
MIRT888653	hsa-miR-4797-5p	CLIP-seq
MIRT888654	hsa-miR-4803	CLIP-seq
MIRT888655	hsa-miR-587	CLIP-seq
MIRT888656	hsa-miR-766	CLIP-seq
MIRT888639	hsa-miR-3163	CLIP-seq
MIRT888640	hsa-miR-3173-3p	CLIP-seq
MIRT888645	hsa-miR-4428	CLIP-seq
MIRT888646	hsa-miR-4477b	CLIP-seq
MIRT888647	hsa-miR-4668-3p	CLIP-seq
MIRT888648	hsa-miR-4695-5p	CLIP-seq
MIRT888650	hsa-miR-4717-5p	CLIP-seq
MIRT888654	hsa-miR-4803	CLIP-seq
MIRT888640	hsa-miR-3173-3p	CLIP-seq
MIRT888645	hsa-miR-4428	CLIP-seq
MIRT888646	hsa-miR-4477b	CLIP-seq
MIRT888648	hsa-miR-4695-5p	CLIP-seq
MIRT888650	hsa-miR-4717-5p	CLIP-seq
MIRT888635	hsa-miR-139-5p	CLIP-seq
MIRT888636	hsa-miR-186	CLIP-seq
MIRT888637	hsa-miR-3144-3p	CLIP-seq
MIRT888638	hsa-miR-3160-3p	CLIP-seq
MIRT888639	hsa-miR-3163	CLIP-seq
MIRT888640	hsa-miR-3173-3p	CLIP-seq
MIRT888641	hsa-miR-3545-3p	CLIP-seq
MIRT888642	hsa-miR-3925-3p	CLIP-seq
MIRT888643	hsa-miR-409-5p	CLIP-seq
MIRT888644	hsa-miR-4286	CLIP-seq
MIRT888645	hsa-miR-4428	CLIP-seq
MIRT888646	hsa-miR-4477b	CLIP-seq
MIRT888647	hsa-miR-4668-3p	CLIP-seq
MIRT888648	hsa-miR-4695-5p	CLIP-seq
MIRT888649	hsa-miR-4712-3p	CLIP-seq
MIRT888650	hsa-miR-4717-5p	CLIP-seq
MIRT888651	hsa-miR-4719	CLIP-seq
MIRT888652	hsa-miR-4768-3p	CLIP-seq
MIRT1963393	hsa-miR-4778-3p	CLIP-seq
MIRT888653	hsa-miR-4797-5p	CLIP-seq
MIRT888654	hsa-miR-4803	CLIP-seq
MIRT888655	hsa-miR-587	CLIP-seq
MIRT888656	hsa-miR-766	CLIP-seq
MIRT888635	hsa-miR-139-5p	CLIP-seq
MIRT888636	hsa-miR-186	CLIP-seq
MIRT888637	hsa-miR-3144-3p	CLIP-seq
MIRT888639	hsa-miR-3163	CLIP-seq
MIRT888640	hsa-miR-3173-3p	CLIP-seq
MIRT888643	hsa-miR-409-5p	CLIP-seq
MIRT888644	hsa-miR-4286	CLIP-seq
MIRT888645	hsa-miR-4428	CLIP-seq
MIRT888646	hsa-miR-4477b	CLIP-seq
MIRT888647	hsa-miR-4668-3p	CLIP-seq
MIRT888648	hsa-miR-4695-5p	CLIP-seq
MIRT888650	hsa-miR-4717-5p	CLIP-seq
MIRT888652	hsa-miR-4768-3p	CLIP-seq
MIRT2199829	hsa-miR-4786-3p	CLIP-seq
MIRT888653	hsa-miR-4797-5p	CLIP-seq
MIRT888654	hsa-miR-4803	CLIP-seq
MIRT2199830	hsa-miR-671-5p	CLIP-seq
MIRT888638	hsa-miR-3160-3p	CLIP-seq
MIRT888641	hsa-miR-3545-3p	CLIP-seq
MIRT888642	hsa-miR-3925-3p	CLIP-seq
MIRT1963393	hsa-miR-4778-3p	CLIP-seq
MIRT888655	hsa-miR-587	CLIP-seq
MIRT888656	hsa-miR-766	CLIP-seq
MIRT888637	hsa-miR-3144-3p	CLIP-seq
MIRT888638	hsa-miR-3160-3p	CLIP-seq
MIRT888641	hsa-miR-3545-3p	CLIP-seq
MIRT888642	hsa-miR-3925-3p	CLIP-seq
MIRT888643	hsa-miR-409-5p	CLIP-seq
MIRT888649	hsa-miR-4712-3p	CLIP-seq
MIRT888652	hsa-miR-4768-3p	CLIP-seq
MIRT1963393	hsa-miR-4778-3p	CLIP-seq
MIRT888655	hsa-miR-587	CLIP-seq
MIRT888656	hsa-miR-766	CLIP-seq
MIRT888637	hsa-miR-3144-3p	CLIP-seq
MIRT888638	hsa-miR-3160-3p	CLIP-seq
MIRT888641	hsa-miR-3545-3p	CLIP-seq
MIRT888642	hsa-miR-3925-3p	CLIP-seq
MIRT888643	hsa-miR-409-5p	CLIP-seq
MIRT888649	hsa-miR-4712-3p	CLIP-seq
MIRT888652	hsa-miR-4768-3p	CLIP-seq
MIRT1963393	hsa-miR-4778-3p	CLIP-seq
MIRT888655	hsa-miR-587	CLIP-seq
MIRT888656	hsa-miR-766	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17500595, 24955142, 25416956, 27499296, 30496485, 30530185, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23303788
GO:0005634	Component	Nucleus	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	25662902
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	25662902
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0034599	Process	Cellular response to oxidative stress	IGI	28589937
GO:0043467	Process	Regulation of generation of precursor metabolites and energy	IDA	23303788
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	23303788
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23303788
GO:0140297	Function	DNA-binding transcription factor binding	IDA	23303788
GO:1900037	Process	Regulation of cellular response to hypoxia	IDA	23303788
GO:1905448	Process	Positive regulation of mitochondrial ATP synthesis coupled electron transport	IGI	28589937

MIM	HGNC	e!Ensembl
616244	21645	ENSG00000106153

Q9Y6H1

Protein name

Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 (Aging-associated gene 10 protein) (HCV NS2 trans-regulated protein) (NS2TP)

Protein function

Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06747	CHCH	114 → 147	CHCH domain	Domain

Sequence

MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMA
TTAAGVAVGSAVGHTLGHAITGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQ
FLECAQNQGDIKLCEGFNEVLKQCRLANGLA

Sequence length

151

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Parkinson disease 22, autosomal dominant	Pathogenic	rs864309650, rs750014782	RCV000203229 RCV000203226	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	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.
Amelogenesis imperfecta	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHCHD2-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27538669, 29121267, 29749507, 30084972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29121267, 29519717, 30084972, 32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31046734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31046734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31046734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25625293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	31046734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	31046734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25625293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31046734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	29540477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	27913209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30655828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29376860		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	27717833, 27814991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29376860, 29749507, 30496485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30084972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37654190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37654190	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31046734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22678061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	39174523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27913209, 37654190, 38220225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	31046734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	26561290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26561290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	26561290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	26188257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	26188257	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25625293, 31839816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30084972, 32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31536674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vasculitis, Central Nervous System	Central nervous system lupus	BEFREE	31536674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31046734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25625293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31046734, 31839816		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	33257573, 40710331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26561290, 31046734, 33257573, 38220225, 40710331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30496485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	33257573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	29519717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	29519717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	31526091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	32437855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25625293, 30655828, 31046734, 31839816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28108040, 29749507, 31628463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25784717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25662902, 26343503, 26561290, 26639156, 27269965, 27353515, 27538669, 27626775, 27717833, 27814991, 27839904, 27839905, 28108040, 28589937, 29121267 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26561290, 29121267, 29519717, 30084972, 30237140, 30530185, 32437855, 35944313, 38631182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT	Parkinson disease	UNIPROT_DG	25662902		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT	Parkinson disease	GENOMICS_ENGLAND_DG	25662902, 26067110		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT	Parkinson disease	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT	Parkinson disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26561290, 30237140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28432706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26561290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	29376860, 29749507, 30496485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29376860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30655828		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)