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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51142
Gene name Gene Name - the full gene name approved by the HGNC.	Coiled-coil-helix-coiled-coil-helix domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHCHD2
Synonyms (NCBI Gene) Gene synonyms aliases	C7orf17, MIX17B, MNRR1, NS2TP, PARK22
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Parkinson disease	parkinson disease 22, autosomal dominant	rs864309650, rs750014782	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amelogenesis imperfecta	amelogenesis imperfecta	N/A	N/A	ClinVar
Dementia	Dementia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	40649864
Adenocarcinoma of Lung	Associate	35937942
Alcoholic Neuropathy	Associate	32437855
Amyotrophic Lateral Sclerosis	Associate	29121267, 29519717, 30084972, 32437855
Breast Neoplasms	Associate	31046734
Carcinogenesis	Associate	25625293
Carcinoma Ductal	Associate	31046734
Carcinoma Ductal Breast	Associate	31046734
Carcinoma Hepatocellular	Associate	25625293
Carcinoma Non Small Cell Lung	Associate	25784717
Cataract Nuclear Progressive	Associate	29540477
Charcot Marie Tooth Disease	Associate	27913209
Drug Related Side Effects and Adverse Reactions	Inhibit	37654190
Frontotemporal Dementia	Associate	30084972
Glioblastoma	Associate	37654190
Glioma	Stimulate	37654190
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31046734
Huntington Disease	Associate	39174523
Hypoxia	Associate	27913209, 37654190, 38220225
Hypoxia Brain	Associate	37654190, 40710331
Inflammation	Associate	38220225
Lewy Body Disease	Associate	26561290
Lissencephaly	Inhibit	26188257
Liver Neoplasms	Associate	30084972, 32437855
Lupus Erythematosus Systemic	Associate	31536674
MELAS Syndrome	Associate	33257573, 40710331
Mitochondrial Diseases	Associate	26561290, 31046734, 33257573, 38220225, 40710331
Mitochondrial Encephalomyopathies	Associate	33257573
Mitochondrial Myopathies	Associate	29519717
Motor Neuron Disease	Associate	32437855
Muscular Atrophy Spinal	Associate	32437855
Neoplasms	Associate	25625293, 25784717
Neoplasms	Stimulate	37654190
Obesity Maternal	Associate	38220225
Parkinson Disease	Associate	26561290, 29121267, 29519717, 30084972, 30237140, 30530185, 32437855, 35944313, 38631182
Parkinson Disease Secondary	Associate	26561290, 30237140
Pre Eclampsia	Stimulate	38220225
Renal Insufficiency	Associate	39174523
Respiratory Distress Syndrome	Associate	30084972

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