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) Homo sapiens
Analyze
Symbol: CHCHD2
Name: coiled-coil-helix-coiled-coil-helix domain containing 2
RGD ID: 1320361
HGNC Page HGNC:21645
Description: Enables DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Involved in several processes, including positive regulation of mitochondrial ATP synthesis coupled electron transport; positive regulation of transcription by RNA polymerase II; and regulation of cellular response to hypoxia. Located in mitochondrial intermembrane space and nucleus. Implicated in Parkinson's disease 22.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
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
GRCh38756,101,573 - 56,106,476 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl756,101,573 - 56,106,476 (-)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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8895530   PMID:12477932   PMID:12853948   PMID:15146197   PMID:15489334   PMID:17207965   PMID:17500595   PMID:19343720   PMID:19680543   PMID:20877624   PMID:21516116   PMID:21873635  
PMID:22898364   PMID:22939629   PMID:23303788   PMID:24955142   PMID:24981860   PMID:25315652   PMID:25416956   PMID:25476776   PMID:25544563   PMID:25625293   PMID:25662902   PMID:25678554  
PMID:25784717   PMID:26186194   PMID:26343503   PMID:26344197   PMID:26496610   PMID:26561290   PMID:26639156   PMID:26705026   PMID:26725463   PMID:26764027   PMID:27118487   PMID:27173435  
PMID:27269965   PMID:27308501   PMID:27342126   PMID:27499296   PMID:27503909   PMID:27538669   PMID:27626775   PMID:27717833   PMID:27810911   PMID:27814991   PMID:27839904   PMID:27839905  
PMID:27913209   PMID:28108040   PMID:28514442   PMID:28589937   PMID:28977470   PMID:29121267   PMID:29128334   PMID:29376860   PMID:29491746   PMID:29519717   PMID:29540477   PMID:29568061  
PMID:29643040   PMID:29845934   PMID:30084972   PMID:30342766   PMID:30496485   PMID:30530185   PMID:30833792   PMID:31046734   PMID:31515488   PMID:31600778   PMID:31871319   PMID:32054470  
PMID:32068847   PMID:32176739   PMID:32203420   PMID:32296183   PMID:32338760   PMID:32437855   PMID:32572940   PMID:32814053   PMID:32877691   PMID:33257573   PMID:33306668   PMID:33685516  
PMID:33957083   PMID:33961781   PMID:34791217   PMID:35157262   PMID:35173147   PMID:35271311   PMID:35388756   PMID:35831314   PMID:35944360   PMID:36225252   PMID:36477358  


Genomics

Comparative Map Data
CHCHD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38756,101,573 - 56,106,476 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl756,101,573 - 56,106,476 (-)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
Chchd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21226,828,738 - 26,834,762 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1226,828,736 - 26,834,755 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1227,966,904 - 27,972,907 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01228,577,441 - 28,583,445 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01227,638,927 - 27,644,930 (+)NCBIRnor_WKY
Rnor_6.01230,443,343 - 30,446,075 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01232,384,075 - 32,388,506 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1228,535,027 - 28,540,873 (+)NCBICelera
Cytogenetic Map12q13NCBI
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
PanPan1.1757,136,723 - 57,141,765 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl757,134,303 - 57,141,765 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0756,714,583 - 56,719,640 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
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 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365437,860,432 - 7,864,050 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
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
(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

Variants

.
Variants in CHCHD2
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1 copy number loss See cases [RCV000052656] Chr7:52114454..57434735 [GRCh38]
Chr7:52182150..57493216 [GRCh37]
Chr7:52149644..57498383 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3 copy number gain See cases [RCV000053439] Chr7:52192528..57823293 [GRCh38]
Chr7:52260224..57882999 [GRCh37]
Chr7:52227718..57886941 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3 copy number gain See cases [RCV000053440] Chr7:53450330..56107195 [GRCh38]
Chr7:53518023..56174888 [GRCh37]
Chr7:53485517..56142382 [NCBI36]
Chr7:7p12.1-11.2		 uncertain significance
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1 copy number loss See cases [RCV000134962] Chr7:55805157..56107195 [GRCh38]
Chr7:55872850..56174888 [GRCh37]
Chr7:55840344..56142382 [NCBI36]
Chr7:7p11.2		 uncertain significance
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3 copy number gain See cases [RCV000141605] Chr7:55538414..56107195 [GRCh38]
Chr7:55606107..56174888 [GRCh37]
Chr7:55573601..56142382 [NCBI36]
Chr7:7p11.2		 uncertain significance
GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1 copy number loss See cases [RCV000142545] Chr7:55733060..56107195 [GRCh38]
Chr7:55800753..56174888 [GRCh37]
Chr7:55768247..56142382 [NCBI36]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln) single nucleotide variant Parkinson disease 22, autosomal dominant [RCV000203222] Chr7:56102878 [GRCh38]
Chr7:56170571 [GRCh37]
Chr7:7p11.2		 pathogenic
NM_016139.4(CHCHD2):c.300+5G>A single nucleotide variant Parkinson disease 22, autosomal dominant [RCV000203226] Chr7:56104221 [GRCh38]
Chr7:56171914 [GRCh37]
Chr7:7p11.2		 pathogenic
NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile) single nucleotide variant Parkinson disease 22, autosomal dominant [RCV000203229] Chr7:56104344 [GRCh38]
Chr7:56172037 [GRCh37]
Chr7:7p11.2		 pathogenic
GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1 copy number loss See cases [RCV000239822] Chr7:55874737..56172217 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3 copy number gain See cases [RCV000598887] Chr7:55848150..56344705 [GRCh37]
Chr7:7p11.2		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3 copy number gain See cases [RCV000447572] Chr7:55874737..56172165 [GRCh37]
Chr7:7p11.2		 benign
GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1 copy number loss See cases [RCV000445658] Chr7:54972516..56172165 [GRCh37]
Chr7:7p11.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1 copy number loss See cases [RCV000512175] Chr7:55550741..56945077 [GRCh37]
Chr7:7p11.2		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
Single allele duplication Autism [RCV000754332] Chr7:52551984..56315037 [GRCh38]
Chr7:7p12.1-11.2		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_016139.4(CHCHD2):c.50+241T>C single nucleotide variant not provided [RCV001535339] Chr7:56106123 [GRCh38]
Chr7:56173816 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.-34C>A single nucleotide variant not provided [RCV001681731] Chr7:56106447 [GRCh38]
Chr7:56174140 [GRCh37]
Chr7:7p11.2		 benign
Single allele duplication not provided [RCV001680908] Chr7:56106696..56106697 [GRCh38]
Chr7:56174389..56174390 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.94G>A (p.Ala32Thr) single nucleotide variant not provided [RCV000762452] Chr7:56104432 [GRCh38]
Chr7:56172125 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_016139.4(CHCHD2):c.5C>T (p.Pro2Leu) single nucleotide variant not provided [RCV000873019] Chr7:56106409 [GRCh38]
Chr7:56174102 [GRCh37]
Chr7:7p11.2		 benign
GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1 copy number loss not provided [RCV000846150] Chr7:52809787..58025873 [GRCh37]
Chr7:7p12.1-11.1		 uncertain significance
NM_016139.4(CHCHD2):c.311dup (p.Thr105fs) duplication not provided [RCV001242386] Chr7:56103000..56103001 [GRCh38]
Chr7:56170693..56170694 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2(chr7:56169544-56174106)x3 copy number gain not provided [RCV000998975] Chr7:56169544..56174106 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.183C>T (p.Thr61_Thr62=) single nucleotide variant not provided [RCV003104830] Chr7:56104343 [GRCh38]
Chr7:56172036 [GRCh37]
Chr7:7p11.2		 likely benign
Single allele single nucleotide variant not provided [RCV001671669] Chr7:56106932 [GRCh38]
Chr7:56174625 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.51-210C>T single nucleotide variant not provided [RCV001649076] Chr7:56104685 [GRCh38]
Chr7:56172378 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.-9T>G single nucleotide variant not provided [RCV001682468] Chr7:56106422 [GRCh38]
Chr7:56174115 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.50+87T>C single nucleotide variant not provided [RCV001656871] Chr7:56106277 [GRCh38]
Chr7:56173970 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.51-193A>G single nucleotide variant not provided [RCV001682141] Chr7:56104668 [GRCh38]
Chr7:56172361 [GRCh37]
Chr7:7p11.2		 benign
Single allele deletion not provided [RCV001720480] Chr7:56106661 [GRCh38]
Chr7:56174354 [GRCh37]
Chr7:7p11.2		 benign
Single allele single nucleotide variant not provided [RCV001720481] Chr7:56106658 [GRCh38]
Chr7:56174351 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.300+159T>G single nucleotide variant not provided [RCV001537605] Chr7:56104067 [GRCh38]
Chr7:56171760 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.*45dup duplication not provided [RCV001694903] Chr7:56101805..56101806 [GRCh38]
Chr7:56169498..56169499 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.*125G>A single nucleotide variant not provided [RCV001709291] Chr7:56101726 [GRCh38]
Chr7:56169419 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.418G>A (p.Val140Met) single nucleotide variant Amelogenesis imperfecta [RCV001089670] Chr7:56102894 [GRCh38]
Chr7:56170587 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.101C>T (p.Pro34Leu) single nucleotide variant not provided [RCV001219337] Chr7:56104425 [GRCh38]
Chr7:56172118 [GRCh37]
Chr7:7p11.2		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_016139.4(CHCHD2):c.320C>G (p.Pro107Arg) single nucleotide variant not provided [RCV001305786] Chr7:56102992 [GRCh38]
Chr7:56170685 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.405G>T (p.Glu135Asp) single nucleotide variant not provided [RCV001303426] Chr7:56102907 [GRCh38]
Chr7:56170600 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.53G>A (p.Arg18Gln) single nucleotide variant not provided [RCV001371004] Chr7:56104473 [GRCh38]
Chr7:56172166 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.264T>C (p.Ser88=) single nucleotide variant not provided [RCV001446251] Chr7:56104262 [GRCh38]
Chr7:56171955 [GRCh37]
Chr7:7p11.2		 likely benign
Single allele deletion not provided [RCV001686492] Chr7:56106859..56106860 [GRCh38]
Chr7:56174552..56174553 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.445+113T>C single nucleotide variant not provided [RCV001709359] Chr7:56102754 [GRCh38]
Chr7:56170447 [GRCh37]
Chr7:7p11.2		 benign
NM_016139.4(CHCHD2):c.40C>T (p.Pro14Ser) single nucleotide variant not provided [RCV001426029] Chr7:56106374 [GRCh38]
Chr7:56174067 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.446-120dup duplication not provided [RCV001732594] Chr7:56101980..56101981 [GRCh38]
Chr7:56169673..56169674 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.50+104C>A single nucleotide variant not provided [RCV001786182] Chr7:56106260 [GRCh38]
Chr7:56173953 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.238A>G (p.Ile80Val) single nucleotide variant not provided [RCV001762993] Chr7:56104288 [GRCh38]
Chr7:56171981 [GRCh37]
Chr7:7p11.2		 uncertain significance
Single allele single nucleotide variant not provided [RCV001786092] Chr7:56106478 [GRCh38]
Chr7:56174171 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.293C>T (p.Thr98Ile) single nucleotide variant not provided [RCV001758459] Chr7:56104233 [GRCh38]
Chr7:56171926 [GRCh37]
Chr7:7p11.2		 uncertain significance
GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3 copy number gain not provided [RCV001834289] Chr7:55776531..56393852 [GRCh37]
Chr7:7p11.2		 likely benign
GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3 copy number gain not provided [RCV001834233] Chr7:55757106..56489653 [GRCh37]
Chr7:7p11.2		 likely benign
NC_000007.13:g.(?_56079455)_(56174106_?)del deletion Deficiency of phosphoserine phosphatase [RCV001920532] Chr7:56079455..56174106 [GRCh37]
Chr7:7p11.2		 uncertain significance
NC_000007.13:g.(?_56079455)_(56174106_?)dup duplication Deficiency of phosphoserine phosphatase [RCV001993474] Chr7:56079455..56174106 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.10G>A (p.Gly4Arg) single nucleotide variant not provided [RCV001981989] Chr7:56106404 [GRCh38]
Chr7:56174097 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.242C>A (p.Thr81Asn) single nucleotide variant not provided [RCV001906298] Chr7:56104284 [GRCh38]
Chr7:56171977 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.359A>G (p.Gln120Arg) single nucleotide variant not provided [RCV001989281] Chr7:56102953 [GRCh38]
Chr7:56170646 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.300+7A>C single nucleotide variant not provided [RCV002096159] Chr7:56104219 [GRCh38]
Chr7:56171912 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.445+17A>G single nucleotide variant not provided [RCV002099984] Chr7:56102850 [GRCh38]
Chr7:56170543 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.445+14C>T single nucleotide variant not provided [RCV002098749] Chr7:56102853 [GRCh38]
Chr7:56170546 [GRCh37]
Chr7:7p11.2		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_016139.3(CHCHD2):c.-93C>A single nucleotide variant not provided [RCV002285712] Chr7:56106506 [GRCh38]
Chr7:56174199 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.115C>A (p.Pro39Thr) single nucleotide variant not specified [RCV002302550] Chr7:56104411 [GRCh38]
Chr7:56172104 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp) single nucleotide variant Inborn genetic diseases [RCV003014151]|not provided [RCV003028198] Chr7:56104375 [GRCh38]
Chr7:56172068 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.45G>C (p.Pro15_Ala16=) single nucleotide variant not provided [RCV002839459] Chr7:56106369 [GRCh38]
Chr7:56174062 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.94G>C (p.Ala32Pro) single nucleotide variant not provided [RCV002620984] Chr7:56104432 [GRCh38]
Chr7:56172125 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.446-9T>A single nucleotide variant not provided [RCV002637509] Chr7:56101870 [GRCh38]
Chr7:56169563 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.391A>G (p.Ile131Val) single nucleotide variant Inborn genetic diseases [RCV002977903] Chr7:56102921 [GRCh38]
Chr7:56170614 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.75A>C (p.Ala25_Pro26=) single nucleotide variant not provided [RCV002597329] Chr7:56104451 [GRCh38]
Chr7:56172144 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.235G>A (p.Ala79Thr) single nucleotide variant not provided [RCV002872143] Chr7:56104291 [GRCh38]
Chr7:56171984 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.361T>G (p.Phe121Val) single nucleotide variant not provided [RCV002939121] Chr7:56102951 [GRCh38]
Chr7:56170644 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.265A>C (p.Asn89His) single nucleotide variant not provided [RCV002962679] Chr7:56104261 [GRCh38]
Chr7:56171954 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.146C>T (p.Ala49Val) single nucleotide variant not provided [RCV002646815] Chr7:56104380 [GRCh38]
Chr7:56172073 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.446-16T>C single nucleotide variant not provided [RCV002671980] Chr7:56101877 [GRCh38]
Chr7:56169570 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.78C>T (p.Pro26_Arg27=) single nucleotide variant not provided [RCV002651206] Chr7:56104448 [GRCh38]
Chr7:56172141 [GRCh37]
Chr7:7p11.2		 likely benign
NM_016139.4(CHCHD2):c.373G>A (p.Ala125Thr) single nucleotide variant not provided [RCV003050710] Chr7:56102939 [GRCh38]
Chr7:56170632 [GRCh37]
Chr7:7p11.2		 uncertain significance
NM_016139.4(CHCHD2):c.51-14del deletion not provided [RCV002943285] Chr7:56104489 [GRCh38]
Chr7:56172182 [GRCh37]
Chr7:7p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:355
Count of miRNA genes:323
Interacting mature miRNAs:345
Transcripts:ENST00000395422, ENST00000473095
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH103090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37756,169,368 - 56,169,556UniSTSGRCh37
GRCh37568,630,162 - 68,630,349UniSTSGRCh37
Build 36568,665,918 - 68,666,105RGDNCBI36
Celera565,633,264 - 65,633,451RGD
Celera767,222,277 - 67,222,465UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map7p11.2UniSTS
HuRef565,585,965 - 65,586,152UniSTS
HuRef755,983,588 - 55,983,776UniSTS
CRA_TCAGchr7v2756,173,615 - 56,173,803UniSTS
GeneMap99-GB4 RH Map7264.55UniSTS
G62103  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p11.2UniSTS
RH79870  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p11.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 70 4 73 11 97 11 41 13 44 29 114 117 6 4
Medium 2363 2982 1650 611 1850 453 4302 2180 3667 388 1335 1491 165 1204 2784 4
Low 5 5 3 2 4 7 4 22 2 11 5 4 1 2 2
Below cutoff 1 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA398444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI218619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY605046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY633613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF347122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN363208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB442753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH071716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000395422   ⟹   ENSP00000378812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl756,101,573 - 56,106,476 (-)Ensembl
RefSeq Acc Id: ENST00000473095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl756,102,636 - 56,106,431 (-)Ensembl
RefSeq Acc Id: NM_001320327   ⟹   NP_001307256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38756,101,573 - 56,106,476 (-)NCBI
CHM1_1756,172,283 - 56,177,351 (-)NCBI
T2T-CHM13v2.0756,261,388 - 56,266,291 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016139   ⟹   NP_057223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38756,101,573 - 56,106,476 (-)NCBI
GRCh37756,169,266 - 56,174,187 (-)RGD
Build 36756,136,760 - 56,141,681 (-)NCBI Archive
Celera767,222,175 - 67,227,096 (-)RGD
HuRef755,983,486 - 55,988,171 (-)RGD
CHM1_1756,172,283 - 56,177,351 (-)NCBI
T2T-CHM13v2.0756,261,388 - 56,266,291 (-)NCBI
CRA_TCAGchr7v2756,173,513 - 56,178,434 (-)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057223   ⟸   NM_016139
- Peptide Label: precursor isoform 2
- UniProtKB: Q6NZ50 (UniProtKB/Swiss-Prot),   Q9Y6H1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307256   ⟸   NM_001320327
- Peptide Label: precursor isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000378812   ⟸   ENST00000395422
Protein Domains
CHCH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6H1-F1-model_v2 AlphaFold Q9Y6H1 1-151 view protein structure

Promoters
RGD ID:7210655
Promoter ID:EPDNEW_H11072
Type:initiation region
Name:CHCHD2_1
Description:coiled-coil-helix-coiled-coil-helix domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38756,106,476 - 56,106,536EPDNEW
RGD ID:6805384
Promoter ID:HG_KWN:57539
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251589,   OTTHUMT00000343558
Position:
Human AssemblyChrPosition (strand)Source
Build 36756,141,591 - 56,142,562 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21645 AgrOrtholog
COSMIC CHCHD2 COSMIC
Ensembl Genes ENSG00000106153 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000378812 ENTREZGENE
  ENSP00000378812.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000395422 ENTREZGENE
  ENST00000395422.4 UniProtKB/Swiss-Prot
GTEx ENSG00000106153 GTEx
HGNC ID HGNC:21645 ENTREZGENE
Human Proteome Map CHCHD2 Human Proteome Map
InterPro CHCH UniProtKB/Swiss-Prot
KEGG Report hsa:51142 UniProtKB/Swiss-Prot
NCBI Gene 51142 ENTREZGENE
OMIM 616244 OMIM
PANTHER COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN CONTAINING 2/NUR77 UniProtKB/Swiss-Prot
  COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 2-RELATED UniProtKB/Swiss-Prot
Pfam CHCH UniProtKB/Swiss-Prot
PharmGKB PA134974636 PharmGKB
PROSITE CHCH UniProtKB/Swiss-Prot
UniProt CHCH2_HUMAN UniProtKB/Swiss-Prot
  Q6NZ50 ENTREZGENE
  Q9Y6H1 ENTREZGENE
UniProt Secondary Q498C3 UniProtKB/Swiss-Prot
  Q6NZ50 UniProtKB/Swiss-Prot