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Gene: CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) Homo sapiens
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Symbol: CHCHD2
Name: coiled-coil-helix-coiled-coil-helix domain containing 2
Description: Exhibits sequence-specific DNA binding activity and transcription factor binding activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of cellular response to hypoxia. Localizes to mitochondrial intermembrane space and nucleus. Implicated in Parkinson's disease 22.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 16.7kD protein; aging-associated gene 10 protein; C7orf17; coiled-coil-helix-coiled-coil-helix domain-containing protein 2; coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial; HCV NS2 trans-regulated protein; mitochondria nuclear retrograde regulator 1; mitochondrial nuclear retrograde regulator 1; MIX17 homolog B; MIX17B; MNRR1; NS2TP; PARK22
Orthologs:
Related Pseudogenes: CHCHD2P1   CHCHD2P10   CHCHD2P2   CHCHD2P3   CHCHD2P4   CHCHD2P5   CHCHD2P6   CHCHD2P7   CHCHD2P8   CHCHD2P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl756,101,573 - 56,106,476 (-)EnsemblGRCh38hg38GRCh38
GRCh38756,101,562 - 56,106,630 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37756,169,266 - 56,174,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36756,136,760 - 56,141,681 (-)NCBINCBI36hg18NCBI36
Build 34755,943,476 - 55,948,396NCBI
Celera767,222,175 - 67,227,096 (-)NCBI
Cytogenetic Map7p11.2NCBI
HuRef755,983,486 - 55,988,171 (-)NCBIHuRef
CHM1_1756,172,283 - 56,177,351 (-)NCBICHM1_1
CRA_TCAGchr7v2756,173,513 - 56,178,434 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on CHCHD2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1320361
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.