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Protein

Coiled-coil-helix-coiled-coil-helix domain-containing protein 2

Gene

CHCHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).1 Publication

GO - Molecular functioni

  • sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
Alternative name(s):
Aging-associated gene 10 protein
HCV NS2 trans-regulated protein
Short name:
NS2TP
Gene namesi
Name:CHCHD2
Synonyms:C7orf17
ORF Names:AAG10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106153.12.
HGNCiHGNC:21645. CHCHD2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Parkinson disease 22 (PARK22)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionAn autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
See also OMIM:616710
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07629961T → I in PARK22; does not affect subcellular location. 1 PublicationCorresponds to variant dbSNP:rs864309650Ensembl.1
Natural variantiVAR_076301145R → Q in PARK22; unknown pathological significance; does not affect subcellular location. 1 PublicationCorresponds to variant dbSNP:rs752169833Ensembl.1

Keywords - Diseasei

Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi51142.
MalaCardsiCHCHD2.
MIMi616710. phenotype.
OpenTargetsiENSG00000106153.
PharmGKBiPA134974636.

Polymorphism and mutation databases

BioMutaiCHCHD2.
DMDMi62510521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001291601 – 151Coiled-coil-helix-coiled-coil-helix domain-containing protein 2Add BLAST151

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi114 ↔ 144PROSITE-ProRule annotation
Disulfide bondi124 ↔ 134PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ9Y6H1.
MaxQBiQ9Y6H1.
PaxDbiQ9Y6H1.
PeptideAtlasiQ9Y6H1.
PRIDEiQ9Y6H1.
TopDownProteomicsiQ9Y6H1.

PTM databases

iPTMnetiQ9Y6H1.
PhosphoSitePlusiQ9Y6H1.

Expressioni

Inductioni

Up-regulated by hypoxia (4% oxygen) (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000106153.
CleanExiHS_CHCHD2.
GenevisibleiQ9Y6H1. HS.

Organism-specific databases

HPAiHPA027407.
HPA052510.

Interactioni

Subunit structurei

Interacts with RBPJ.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119326. 142 interactors.
IntActiQ9Y6H1. 33 interactors.
STRINGi9606.ENSP00000378812.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6H1.
SMRiQ9Y6H1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini111 – 151CHCHPROSITE-ProRule annotationAdd BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi114 – 124Cx9C motif 1PROSITE-ProRule annotationAdd BLAST11
Motifi134 – 144Cx9C motif 2PROSITE-ProRule annotationAdd BLAST11

Phylogenomic databases

eggNOGiKOG4090. Eukaryota.
ENOG41126E7. LUCA.
GeneTreeiENSGT00440000038159.
HOGENOMiHOG000194088.
HOVERGENiHBG059852.
InParanoidiQ9Y6H1.
OMAiICNWYLE.
OrthoDBiEOG091G114W.
PhylomeDBiQ9Y6H1.
TreeFamiTF318060.

Family and domain databases

InterProiView protein in InterPro
IPR010625. CHCH.
PfamiView protein in Pfam
PF06747. CHCH. 1 hit.
PROSITEiView protein in PROSITE
PS51808. CHCH. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y6H1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPRGSRSRTS RMAPPASRAP QMRAAPRPAP VAQPPAAAPP SAVGSSAAAP
60 70 80 90 100
RQPGLMAQMA TTAAGVAVGS AVGHTLGHAI TGGFSGGSNA EPARPDITYQ
110 120 130 140 150
EPQGTQPAQQ QQPCLYEIKQ FLECAQNQGD IKLCEGFNEV LKQCRLANGL

A
Length:151
Mass (Da):15,513
Last modified:November 1, 1999 - v1
Checksum:i5403662D8DB4FB86
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54G → V in AAH66331 (PubMed:15489334).Curated1

Polymorphismi

Mutations in CHCHD2 are rare, and might vary by ethnic origin.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0762932P → L Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs142444896Ensembl.1
Natural variantiVAR_0762944G → R Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs778328496Ensembl.1
Natural variantiVAR_07629514P → S Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs137965562Ensembl.1
Natural variantiVAR_07629634P → L Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs371198317Ensembl.1
Natural variantiVAR_07629737A → V Rare polymorphism; may influence risk for Lewy body disorders. 1 Publication1
Natural variantiVAR_07629849A → V Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs151213700Ensembl.1
Natural variantiVAR_07629961T → I in PARK22; does not affect subcellular location. 1 PublicationCorresponds to variant dbSNP:rs864309650Ensembl.1
Natural variantiVAR_04869978H → N. Corresponds to variant dbSNP:rs11546418Ensembl.1
Natural variantiVAR_07630093A → V Rare polymorphism; may influence risk for Lewy body disorders. 1 PublicationCorresponds to variant dbSNP:rs748182315Ensembl.1
Natural variantiVAR_076301145R → Q in PARK22; unknown pathological significance; does not affect subcellular location. 1 PublicationCorresponds to variant dbSNP:rs752169833Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY605046 mRNA. Translation: AAT35813.1.
AF078845 mRNA. Translation: AAD44477.1.
AY633613 mRNA. Translation: AAV33306.1.
AC006970 Genomic DNA. Translation: AAQ96886.1.
BC003079 mRNA. Translation: AAH03079.1.
BC015639 mRNA. Translation: AAH15639.1.
BC066331 mRNA. Translation: AAH66331.1.
BC071985 mRNA. Translation: AAH71985.1.
BC100275 mRNA. Translation: AAI00276.1.
CCDSiCCDS5526.1.
RefSeqiNP_057223.1. NM_016139.3.
UniGeneiHs.389996.
Hs.547257.

Genome annotation databases

EnsembliENST00000395422; ENSP00000378812; ENSG00000106153.
GeneIDi51142.
KEGGihsa:51142.
UCSCiuc003tsa.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCHCH2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6H1
Secondary accession number(s): Q498C3, Q6NZ50
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: November 1, 1999
Last modified: October 25, 2017
This is version 121 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot