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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: -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
MIMi616244 gene
neXtProtiNX_Q9Y6H1

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:rs864309650EnsemblClinVar.1
Natural variantiVAR_076301145R → Q in PARK22; unknown pathological significance; does not affect subcellular location. 1 PublicationCorresponds to variant dbSNP:rs752169833EnsemblClinVar.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
ProteomicsDBi86678
TopDownProteomicsiQ9Y6H1

PTM databases

iPTMnetiQ9Y6H1
PhosphoSitePlusiQ9Y6H1

Expressioni

Inductioni

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

Gene expression databases

BgeeiENSG00000106153 Expressed in 164 organ(s), highest expression level in right adrenal gland
CleanExiHS_CHCHD2
GenevisibleiQ9Y6H1 HS

Organism-specific databases

HPAiHPA027407
HPA052510

Interactioni

Subunit structurei

Interacts with RBPJ.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119326, 146 interactors
IntActiQ9Y6H1, 93 interactors
MINTiQ9Y6H1
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
KOiK22758
OMAiCDADARN
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:rs864309650EnsemblClinVar.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:rs752169833EnsemblClinVar.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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ9Y6H1
SMRiQ9Y6H1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119326, 146 interactors
IntActiQ9Y6H1, 93 interactors
MINTiQ9Y6H1
STRINGi9606.ENSP00000378812

PTM databases

iPTMnetiQ9Y6H1
PhosphoSitePlusiQ9Y6H1

Polymorphism and mutation databases

BioMutaiCHCHD2
DMDMi62510521

Proteomic databases

EPDiQ9Y6H1
MaxQBiQ9Y6H1
PaxDbiQ9Y6H1
PeptideAtlasiQ9Y6H1
PRIDEiQ9Y6H1
ProteomicsDBi86678
TopDownProteomicsiQ9Y6H1

Protocols and materials databases

DNASUi51142
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51142
DisGeNETi51142
EuPathDBiHostDB:ENSG00000106153.12
GeneCardsiCHCHD2
HGNCiHGNC:21645 CHCHD2
HPAiHPA027407
HPA052510
MalaCardsiCHCHD2
MIMi616244 gene
616710 phenotype
neXtProtiNX_Q9Y6H1
OpenTargetsiENSG00000106153
PharmGKBiPA134974636
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4090 Eukaryota
ENOG41126E7 LUCA
GeneTreeiENSGT00440000038159
HOGENOMiHOG000194088
HOVERGENiHBG059852
InParanoidiQ9Y6H1
KOiK22758
OMAiCDADARN
OrthoDBiEOG091G114W
PhylomeDBiQ9Y6H1
TreeFamiTF318060

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

ChiTaRSiCHCHD2 human
GenomeRNAii51142
PROiPR:Q9Y6H1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106153 Expressed in 164 organ(s), highest expression level in right adrenal gland
CleanExiHS_CHCHD2
GenevisibleiQ9Y6H1 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 130 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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