CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) - Rat Genome Database

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Gene: CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) Sus scrofa
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Symbol: CHCHD2
Name: coiled-coil-helix-coiled-coil-helix domain containing 2
RGD ID: 14212718
Description: ENCODES a protein that exhibits DNA-binding transcription factor binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN cellular response to oxidative stress (inferred); mitochondrion organization (inferred); positive regulation of mitochondrial ATP synthesis coupled electron transport (inferred); ASSOCIATED WITH amelogenesis imperfecta (ortholog); autistic disorder (ortholog); Parkinson's disease 22 (ortholog); FOUND IN mitochondrial intermembrane space (inferred); mitochondrion (inferred); nucleus (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: coiled-coil-helix-coiled-coil-helix domain-containing protein 2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl316,812,404 - 16,819,124 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1316,812,409 - 16,819,130 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,065,147 - 17,071,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CHCHD2Pigamelogenesis imperfecta  ISOCHCHD2 (Homo sapiens)8554872ClinVar Annotator: match by term: Amelogenesis imperfectaClinVar 
CHCHD2Pigautistic disorder  ISOCHCHD2 (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
CHCHD2PigParkinson's disease 22  ISOCHCHD2 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:23806086 more ...
CHCHD2Pigpleomorphic xanthoastrocytoma  ISOCHCHD2 (Homo sapiens)8554872ClinVar Annotator: match by term: Pleomorphic xanthoastrocytomaClinVarPMID:28299358
CHCHD2PigPSPH deficiency  ISOCHCHD2 (Homo sapiens)8554872ClinVar Annotator: match by term: Phosphoserine phosphatase deficiencyClinVarPMID:28492532
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CHCHD2PigParkinson's disease 22  ISOCHCHD2 (Homo sapiens)7240710 OMIM 


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CHCHD2Pigcellular response to oxidative stress involved_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pigmitochondrion organization involved_inIEAInterPro:IPR055304150520179 InterProGO_REF:0000002
CHCHD2Pigmitochondrion organization involved_inIBAPANTHER:PTN000338319 more ...150520179 GO_CentralGO_REF:0000033
CHCHD2Pigpositive regulation of mitochondrial ATP synthesis coupled electron transport acts_upstream_ofIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pigpositive regulation of transcription by RNA polymerase II involved_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pigpositive regulation of transcription by RNA polymerase II involved_inIBAPANTHER:PTN002669579 and UniProtKB:Q9Y6H1150520179 GO_CentralGO_REF:0000033
CHCHD2Pigregulation of cellular response to hypoxia involved_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pigregulation of generation of precursor metabolites and energy involved_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CHCHD2Pigmitochondrial intermembrane space located_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pigmitochondrion is_active_inIBAMGI:2143558 more ...150520179 GO_CentralGO_REF:0000033
CHCHD2Pigmitochondrion located_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107
CHCHD2Pignucleus is_active_inIBAPANTHER:PTN000338319 and UniProtKB:Q9Y6H1150520179 GO_CentralGO_REF:0000033
CHCHD2Pignucleus located_inIEAUniProtKB:Q9Y6H1 and ensembl:ENSP00000378812150520179 EnsemblGO_REF:0000107

Molecular Function
1 to 11 of 11 rows

  
1 to 11 of 11 rows

PMID:14681463   PMID:15679890   PMID:17145712   PMID:30032202  



CHCHD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl316,812,404 - 16,819,124 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1316,812,409 - 16,819,130 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,065,147 - 17,071,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHCHD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38756,101,573 - 56,106,476 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl756,094,567 - 56,106,479 (-)EnsemblGRCh38hg38GRCh38
GRCh37756,169,266 - 56,174,169 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36756,136,760 - 56,141,681 (-)NCBINCBI36Build 36hg18NCBI36
Build 34755,943,476 - 55,948,396NCBI
Celera767,222,175 - 67,227,096 (-)NCBICelera
Cytogenetic Map7p11.2NCBI
HuRef755,983,486 - 55,988,171 (-)NCBIHuRef
CHM1_1756,172,294 - 56,177,215 (-)NCBICHM1_1
T2T-CHM13v2.0756,261,388 - 56,266,291 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2756,173,513 - 56,178,434 (-)NCBI
Chchd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395129,910,002 - 129,916,311 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5129,909,997 - 129,916,311 (-)EnsemblGRCm39 Ensembl
GRCm385129,881,161 - 129,887,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5129,881,156 - 129,887,470 (-)EnsemblGRCm38mm10GRCm38
MGSCv375130,357,032 - 130,363,340 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365130,165,865 - 130,172,173 (-)NCBIMGSCv36mm8
Celera5126,880,556 - 126,886,855 (-)NCBICelera
Cytogenetic Map5G1.3NCBI
cM Map568.26NCBI
Chchd2l3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89101,947,769 - 101,948,440 (-)NCBIGRCr8
mRatBN7.2994,500,439 - 94,501,110 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl994,500,432 - 94,501,128 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9102,935,898 - 102,936,569 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09108,071,025 - 108,071,696 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09106,427,988 - 106,428,659 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09101,388,148 - 101,388,819 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.09101,018,487 - 101,019,158 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.09101,018,677 - 101,019,134 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4927,858,760 - 28,053,369 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.4993,253,912 - 93,254,617 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1993,460,637 - 93,461,304 (-)NCBI
Celera992,034,380 - 92,035,051 (-)NCBICelera
Cytogenetic Map9q36NCBI
Chchd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554568,255,898 - 8,265,488 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554568,260,533 - 8,265,488 (-)NCBIChiLan1.0ChiLan1.0
CHCHD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2660,953,733 - 60,958,902 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17109,278,455 - 109,283,547 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0756,714,583 - 56,719,640 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1757,136,723 - 57,141,765 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl757,134,303 - 57,141,765 (-)Ensemblpanpan1.1panPan2
CHCHD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.16581,276 - 585,367 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl6581,280 - 585,301 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha62,280,745 - 2,284,839 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.06385,111 - 389,203 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl6385,115 - 389,137 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.16328,861 - 332,963 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.06322,956 - 327,041 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.06494,144 - 498,243 (-)NCBIUU_Cfam_GSD_1.0
Chchd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344126,172,517 - 126,175,918 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365437,860,448 - 7,863,983 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365437,860,432 - 7,864,050 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHCHD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1212,675,522 - 2,680,406 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041179,877,669 - 179,882,552 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chchd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247408,278,078 - 8,283,657 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247408,279,416 - 8,283,730 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in CHCHD2
275 total Variants



alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3



Ensembl Acc Id: ENSSSCT00000008489   ⟹   ENSSSCP00000008270
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl316,812,404 - 16,819,124 (+)Ensembl
RefSeq Acc Id: XM_003124448   ⟹   XP_003124496
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1316,812,409 - 16,819,130 (+)NCBI
Sequence:
1 to 13 of 13 rows
Protein RefSeqs XP_003124496 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSSSCP00000008270
  ENSSSCP00000008270.2
  ENSSSCP00015027646.1
  ENSSSCP00025020763.1
  ENSSSCP00030040254.1
  ENSSSCP00035023421.1
  ENSSSCP00040007122.1
  ENSSSCP00045038374.1
  ENSSSCP00055045070.1
  ENSSSCP00065046861.1
  ENSSSCP00070008288.1
  ENSSSCP00070008294.1
1 to 13 of 13 rows
RefSeq Acc Id: XP_003124496   ⟸   XM_003124448
- UniProtKB: F1RIU9 (UniProtKB/TrEMBL),   A0A4X1SZD7 (UniProtKB/TrEMBL),   A0A8D1IU36 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000008270   ⟸   ENSSSCT00000008489



1 to 34 of 34 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSSSCG00000007743 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015051805 UniProtKB/TrEMBL
  ENSSSCG00025035532 UniProtKB/TrEMBL
  ENSSSCG00030062337 UniProtKB/TrEMBL
  ENSSSCG00035043860 UniProtKB/TrEMBL
  ENSSSCG00040013143 UniProtKB/TrEMBL
  ENSSSCG00045032223 UniProtKB/TrEMBL
  ENSSSCG00055028458 UniProtKB/TrEMBL
  ENSSSCG00065076454 UniProtKB/TrEMBL
  ENSSSCG00070005327 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000008489 ENTREZGENE
  ENSSSCT00000008489.5 UniProtKB/TrEMBL
  ENSSSCT00015068987.1 UniProtKB/TrEMBL
  ENSSSCT00025048458.1 UniProtKB/TrEMBL
  ENSSSCT00030087192.1 UniProtKB/TrEMBL
  ENSSSCT00035058274.1 UniProtKB/TrEMBL
  ENSSSCT00040017442.1 UniProtKB/TrEMBL
  ENSSSCT00045055053.1 UniProtKB/TrEMBL
  ENSSSCT00055056406.1 UniProtKB/TrEMBL
  ENSSSCT00065105592.1 UniProtKB/TrEMBL
  ENSSSCT00070010096.1 UniProtKB/TrEMBL
  ENSSSCT00070010103.1 UniProtKB/TrEMBL
InterPro CHCHD2/10-like UniProtKB/TrEMBL
KEGG Report ssc:100518545 UniProtKB/TrEMBL
NCBI Gene CHCHD2 ENTREZGENE
PANTHER COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN CONTAINING 2/NUR77 UniProtKB/TrEMBL
  COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 2-RELATED UniProtKB/TrEMBL
PROSITE CHCH UniProtKB/TrEMBL
UniProt A0A4X1SZD7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D0XUK9_PIG UniProtKB/TrEMBL
  A0A8D1CVH7_PIG UniProtKB/TrEMBL
  A0A8D1IU36 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D1UDA0_PIG UniProtKB/TrEMBL
  F1RIU9 ENTREZGENE, UniProtKB/TrEMBL
1 to 34 of 34 rows