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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

  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • regulation of cellular response to hypoxia Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription

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

HGNCiHGNC:21645. CHCHD2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrion Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134974636.

Polymorphism and mutation databases

BioMutaiCHCHD2.
DMDMi62510521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 151151Coiled-coil-helix-coiled-coil-helix domain-containing protein 2PRO_0000129160Add
BLAST

Proteomic databases

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

PTM databases

iPTMnetiQ9Y6H1.
PhosphoSiteiQ9Y6H1.

Expressioni

Inductioni

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

Gene expression databases

BgeeiQ9Y6H1.
CleanExiHS_CHCHD2.
GenevisibleiQ9Y6H1. HS.

Organism-specific databases

HPAiHPA027407.
HPA052510.

Interactioni

Subunit structurei

Interacts with RBPJ.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-2321769,EBI-10173507
EHMT2A2ABF93EBI-2321769,EBI-10174566
GOLGA2Q083793EBI-2321769,EBI-618309
IKZF3Q9UKT93EBI-2321769,EBI-747204
INCA1Q0VD863EBI-2321769,EBI-6509505
KRT31Q153233EBI-2321769,EBI-948001
KRT40Q6A1623EBI-2321769,EBI-10171697
LHX4Q969G23EBI-2321769,EBI-2865388
RELQ048643EBI-2321769,EBI-307352
TCF4P158843EBI-2321769,EBI-533224
TRIM54Q9BYV23EBI-2321769,EBI-2130429

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119326. 28 interactions.
IntActiQ9Y6H1. 18 interactions.
STRINGi9606.ENSP00000378812.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6H1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini107 – 14741CHCHAdd
BLAST

Sequence similaritiesi

Contains 1 CHCH domain.Curated

Phylogenomic databases

eggNOGiKOG4090. Eukaryota.
ENOG41126E7. LUCA.
GeneTreeiENSGT00440000038159.
HOGENOMiHOG000194088.
HOVERGENiHBG059852.
InParanoidiQ9Y6H1.
OMAiRADITYQ.
OrthoDBiEOG7966JN.
PhylomeDBiQ9Y6H1.
TreeFamiTF318060.

Family and domain databases

InterProiIPR010625. CHCH.
[Graphical view]
PfamiPF06747. CHCH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti54 – 541G → V in AAH66331 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781H → N.
Corresponds to variant rs11546418 [ dbSNP | Ensembl ].
VAR_048699

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119326. 28 interactions.
IntActiQ9Y6H1. 18 interactions.
STRINGi9606.ENSP00000378812.

PTM databases

iPTMnetiQ9Y6H1.
PhosphoSiteiQ9Y6H1.

Polymorphism and mutation databases

BioMutaiCHCHD2.
DMDMi62510521.

Proteomic databases

EPDiQ9Y6H1.
MaxQBiQ9Y6H1.
PaxDbiQ9Y6H1.
PeptideAtlasiQ9Y6H1.
PRIDEiQ9Y6H1.
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.
GeneCardsiCHCHD2.
HGNCiHGNC:21645. CHCHD2.
HPAiHPA027407.
HPA052510.
MIMi616244. gene.
neXtProtiNX_Q9Y6H1.
PharmGKBiPA134974636.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4090. Eukaryota.
ENOG41126E7. LUCA.
GeneTreeiENSGT00440000038159.
HOGENOMiHOG000194088.
HOVERGENiHBG059852.
InParanoidiQ9Y6H1.
OMAiRADITYQ.
OrthoDBiEOG7966JN.
PhylomeDBiQ9Y6H1.
TreeFamiTF318060.

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.

Miscellaneous databases

GenomeRNAii51142.
PROiQ9Y6H1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y6H1.
CleanExiHS_CHCHD2.
GenevisibleiQ9Y6H1. HS.

Family and domain databases

InterProiIPR010625. CHCH.
[Graphical view]
PfamiPF06747. CHCH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human 16.7Kd protein, complete cds."
    Peng Y., Song H., Dai M., Huang Q., Mao Y., Zhang Q., Mao M., Fu G., Luo M., Chen J., Hu R.
    Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Pituitary.
  2. "Cloning and identification of gene NS2TP transregulated by non-structural protein 2 of hepatitis C virus."
    Zhang L.-Y., Cheng J., Deng H., Liu Y., Wang L.
    Shi Jie Hua Ren Xiao Hua Za Zhi 13:1700-1704(2005)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Identification of a human aging-associated gene."
    Kim J.W.
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain, Colon, Lung and PNS.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2."
    Aras S., Pak O., Sommer N., Finley R. Jr., Huttemann M., Weissmann N., Grossman L.I.
    Nucleic Acids Res. 41:2255-2266(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN COX4I2 TRANSCRIPTION, INTERACTION WITH RBPJ, SUBCELLULAR LOCATION, INDUCTION BY HYPOXIA.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCHCH2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6H1
Secondary accession number(s): Q498C3, Q6NZ50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: November 1, 1999
Last modified: June 8, 2016
This is version 110 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.