• Gene id: 51142

Gene Summary

• Gene Symbol: CHCHD2   Gene   UCSC   Ensembl
• Aliases: C7orf17, MIX17B, MNRR1, NS2TP, PARK22
• Gene name: coiled-coil-helix-coiled-coil-helix domain containing 2
• Alternate names: coiled-coil-helix-coiled-coil-helix domain-containing protein 2, 16.7kD protein, HCV NS2 trans-regulated protein, MIX17 homolog B, aging-associated gene 10 protein, coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial, mitochondria nuc,
• Gene location: 7p11.2 (56106629: 56101561)     Exons: 4     NC_000007.14
• Gene summary(Entrez): 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,
• OMIM: 616244

Protein Summary

• Protein general information: Q9Y6H1  
  • Name: Coiled coil helix coiled coil helix domain containing protein 2 (Aging associated gene 10 protein) (HCV NS2 trans regulated protein) (NS2TP)
  • Length: 151  
  • Mass: 15513
• Sequence:

  MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHT
  LGHAITGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCRLANGL
  A

• Structural information:
  • Protein Domains: (111..15-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR010625  
  • Prosite: PS51808
  • STRING: ENSP00000378812
• Other Databases: GeneCards:  CHCHD2  Malacards:  CHCHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0007005	mitochondrion organization	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:1900037	regulation of cellular response to hypoxia	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
Parkinson disease	KEGG:H00057
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq