COX7A2L (cytochrome c oxidase subunit 7A2 like) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: COX7A2L (cytochrome c oxidase subunit 7A2 like) Homo sapiens
Analyze
Symbol: COX7A2L
Name: cytochrome c oxidase subunit 7A2 like
RGD ID: 1314534
HGNC Page HGNC:2289
Description: Enables protein-macromolecule adaptor activity. Involved in mitochondrial respirasome assembly. Located in nucleolus. Is active in mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COX7a-related protein; COX7AR; COX7RP; cytochrome c oxidase subunit 7A-related protein, mitochondrial; cytochrome c oxidase subunit 7A2-like, mitochondrial; cytochrome c oxidase subunit VII-related protein; cytochrome c oxidase subunit VIIa polypeptide 2 like; cytochrome c oxidase subunit VIIa-related protein; EB1; estrogen receptor binding CpG island; SCAF1; SCAFI; SIG81; supercomplex assembly factor 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100288010   LOC100288385  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38242,335,559 - 42,368,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl242,333,546 - 42,425,088 (-)EnsemblGRCh38hg38GRCh38
GRCh37242,562,699 - 42,596,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36242,431,146 - 42,441,860 (-)NCBINCBI36Build 36hg18NCBI36
Build 34242,489,297 - 42,500,007NCBI
Celera242,417,924 - 42,428,640 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef242,312,008 - 42,322,727 (-)NCBIHuRef
CHM1_1242,507,075 - 42,517,803 (-)NCBICHM1_1
T2T-CHM13v2.0242,340,963 - 42,374,398 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Lynch syndrome  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8647836   PMID:9418891   PMID:10335655   PMID:11156535   PMID:12477932   PMID:14562965   PMID:14702039   PMID:15489334   PMID:16189514   PMID:19064571   PMID:19322201   PMID:19834535  
PMID:20307258   PMID:20877624   PMID:21873635   PMID:22939629   PMID:23812712   PMID:24344204   PMID:25544563   PMID:26186194   PMID:27499296   PMID:27545886   PMID:27550821   PMID:28380382  
PMID:28514442   PMID:29117863   PMID:30428348   PMID:30572598   PMID:31023583   PMID:31536960   PMID:31617661   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34800366   PMID:35944360  
PMID:36198313   PMID:36253618   PMID:37071682   PMID:37827155  


Genomics

Comparative Map Data
COX7A2L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38242,335,559 - 42,368,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl242,333,546 - 42,425,088 (-)EnsemblGRCh38hg38GRCh38
GRCh37242,562,699 - 42,596,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36242,431,146 - 42,441,860 (-)NCBINCBI36Build 36hg18NCBI36
Build 34242,489,297 - 42,500,007NCBI
Celera242,417,924 - 42,428,640 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef242,312,008 - 42,322,727 (-)NCBIHuRef
CHM1_1242,507,075 - 42,517,803 (-)NCBICHM1_1
T2T-CHM13v2.0242,340,963 - 42,374,398 (-)NCBIT2T-CHM13v2.0
Cox7a2l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391783,809,346 - 83,821,762 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1783,809,347 - 83,824,759 (-)EnsemblGRCm39 Ensembl
GRCm381783,501,917 - 83,514,333 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1783,501,918 - 83,517,330 (-)EnsemblGRCm38mm10GRCm38
MGSCv371783,901,257 - 83,913,673 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361783,410,257 - 83,422,627 (-)NCBIMGSCv36mm8
Celera1787,843,482 - 87,856,037 (-)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1753.02NCBI
Cox7a2l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8616,936,574 - 16,950,797 (+)NCBIGRCr8
mRatBN7.2611,184,064 - 11,198,287 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl611,184,285 - 11,198,273 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx611,478,130 - 11,492,350 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0611,787,460 - 11,801,680 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0611,300,814 - 11,315,039 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.066,695,807 - 6,709,790 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl66,695,827 - 6,709,783 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.066,650,352 - 6,664,329 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.466,834,523 - 6,861,652 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.166,835,178 - 6,861,594 (-)NCBI
Celera610,889,441 - 10,903,386 (+)NCBICelera
Cytogenetic Map6q12NCBI
Cox7a2l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554419,733,894 - 9,743,354 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554419,732,168 - 9,743,052 (-)NCBIChiLan1.0ChiLan1.0
COX7A2L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21284,046,260 - 84,059,874 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A84,050,233 - 84,063,841 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A42,447,387 - 42,461,792 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A43,299,759 - 43,319,617 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A43,299,759 - 43,319,617 (-)Ensemblpanpan1.1panPan2
COX7A2L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11733,954,882 - 33,976,749 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1733,955,118 - 33,976,699 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1733,724,532 - 33,746,618 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01734,722,422 - 34,744,550 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1734,722,441 - 34,744,511 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11733,847,446 - 33,869,523 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01733,909,770 - 33,931,814 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01734,127,318 - 34,149,512 (-)NCBIUU_Cfam_GSD_1.0
Cox7a2l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629237,851,353 - 37,858,670 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365089,279,974 - 9,287,279 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX7A2L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl397,951,114 - 97,983,309 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1397,951,115 - 97,983,309 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23104,086,468 - 104,118,648 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX7A2L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11464,895,317 - 64,909,162 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604546,995,153 - 47,008,572 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cox7a2l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473823,975,788 - 24,066,011 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473824,058,426 - 24,065,764 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX7A2L
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p21(chr2:41999414-42915744)x3 copy number gain See cases [RCV000052944] Chr2:41999414..42915744 [GRCh38]
Chr2:42226554..43142884 [GRCh37]
Chr2:42080058..42996388 [NCBI36]
Chr2:2p21
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p21(chr2:42347475-42611298)x1 copy number loss See cases [RCV000142198] Chr2:42347475..42611298 [GRCh38]
Chr2:42574615..42838438 [GRCh37]
Chr2:42428119..42691942 [NCBI36]
Chr2:2p21
uncertain significance|conflicting data from submitters
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.11:g.38121110_47669522inv inversion Hereditary nonpolyposis colorectal neoplasms [RCV002231155] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21
pathogenic
GRCh37/hg19 2p21(chr2:42575687-42838431)x1 copy number loss not provided [RCV000845690] Chr2:42575687..42838431 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
GRCh37/hg19 2p21(chr2:42565580-42626963)x1 copy number loss not provided [RCV001005253] Chr2:42565580..42626963 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004718.4(COX7A2L):c.128C>G (p.Thr43Ser) single nucleotide variant not specified [RCV004610893] Chr2:42353288 [GRCh38]
Chr2:42580428 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p22.1-21(chr2:39751028-43437611) copy number loss not specified [RCV002052471] Chr2:39751028..43437611 [GRCh37]
Chr2:2p22.1-21
uncertain significance
NC_000002.11:g.(?_38121051)_(47710088_?)dup duplication Hereditary nonpolyposis colorectal neoplasms [RCV003122260] Chr2:38121051..47710088 [GRCh37]
Chr2:2p22.2-21
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21
pathogenic
NM_004718.4(COX7A2L):c.101C>T (p.Ala34Val) single nucleotide variant not specified [RCV004372283] Chr2:42353315 [GRCh38]
Chr2:42580455 [GRCh37]
Chr2:2p21
uncertain significance
NM_004718.4(COX7A2L):c.217G>A (p.Val73Met) single nucleotide variant not specified [RCV004372284] Chr2:42351347 [GRCh38]
Chr2:42578487 [GRCh37]
Chr2:2p21
uncertain significance
NM_004718.4(COX7A2L):c.38C>T (p.Ala13Val) single nucleotide variant not specified [RCV004372286] Chr2:42361124 [GRCh38]
Chr2:42588264 [GRCh37]
Chr2:2p21
uncertain significance
NM_004718.4(COX7A2L):c.329A>G (p.Gln110Arg) single nucleotide variant not specified [RCV004372285] Chr2:42351235 [GRCh38]
Chr2:42578375 [GRCh37]
Chr2:2p21
uncertain significance
NM_004718.4(COX7A2L):c.66C>A (p.Ser22Arg) single nucleotide variant not specified [RCV004610892] Chr2:42361096 [GRCh38]
Chr2:42588236 [GRCh37]
Chr2:2p21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2015
Count of miRNA genes:802
Interacting mature miRNAs:904
Transcripts:ENST00000234301, ENST00000378669, ENST00000463055, ENST00000464443, ENST00000468711, ENST00000482463, ENST00000607768
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597497933GWAS1594007_Hlean body mass QTL GWAS1594007 (human)9e-13body lean mass (VT:0010483)total body lean mass (CMO:0003950)24234868042348681Human
597459135GWAS1555209_HFEV/FVC ratio, gastroesophageal reflux disease QTL GWAS1555209 (human)1e-08FEV/FVC ratio, gastroesophageal reflux diseaseforced expiratory volume to forced vital capacity ratio (CMO:0000241)24234081742340818Human
597473737GWAS1569811_Happendicular lean mass QTL GWAS1569811 (human)5e-22appendicular lean mass24234868042348681Human
596962254GWAS1081773_HFEV/FVC ratio, gastroesophageal reflux disease QTL GWAS1081773 (human)1e-08FEV/FVC ratio, gastroesophageal reflux diseaseforced expiratory volume to forced vital capacity ratio (CMO:0000241)24234081742340818Human
597364545GWAS1460619_Hbody height QTL GWAS1460619 (human)2e-26body height (VT:0001253)body height (CMO:0000106)24234868042348681Human
597262631GWAS1358705_Hhigh density lipoprotein cholesterol measurement QTL GWAS1358705 (human)1e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)24236298242362983Human

Markers in Region
RH35811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37242,577,726 - 42,577,869UniSTSGRCh37
Build 36242,431,230 - 42,431,373RGDNCBI36
Celera242,418,008 - 42,418,151RGD
Cytogenetic Map2p21UniSTS
HuRef242,312,092 - 42,312,235UniSTS
GeneMap99-GB4 RH Map2134.49UniSTS
NCBI RH Map2307.9UniSTS
WIAF-1562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37242,577,650 - 42,577,837UniSTSGRCh37
Build 36242,431,154 - 42,431,341RGDNCBI36
Celera242,417,932 - 42,418,119RGD
Cytogenetic Map2p21UniSTS
HuRef242,312,016 - 42,312,203UniSTS
GeneMap99-GB4 RH Map2130.63UniSTS
NCBI RH Map2291.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001319036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA890657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF130603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI598394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA336587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD700827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF593726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000234301   ⟹   ENSP00000234301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,349,338 - 42,361,217 (-)Ensembl
Ensembl Acc Id: ENST00000378669   ⟹   ENSP00000367938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,349,338 - 42,369,010 (-)Ensembl
Ensembl Acc Id: ENST00000423797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,365,670 - 42,425,088 (-)Ensembl
Ensembl Acc Id: ENST00000463055   ⟹   ENSP00000431039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,352,887 - 42,361,172 (-)Ensembl
Ensembl Acc Id: ENST00000464443   ⟹   ENSP00000428873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,350,852 - 42,361,192 (-)Ensembl
Ensembl Acc Id: ENST00000468711   ⟹   ENSP00000429237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,333,546 - 42,361,149 (-)Ensembl
Ensembl Acc Id: ENST00000482463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,350,507 - 42,360,038 (-)Ensembl
Ensembl Acc Id: ENST00000607768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl242,350,941 - 42,388,507 (-)Ensembl
RefSeq Acc Id: NM_001319036   ⟹   NP_001305965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,350,496 - 42,368,957 (-)NCBI
CHM1_1242,507,069 - 42,525,562 (-)NCBI
T2T-CHM13v2.0242,355,900 - 42,374,398 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319037   ⟹   NP_001305966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,350,496 - 42,368,957 (-)NCBI
CHM1_1242,507,069 - 42,525,562 (-)NCBI
T2T-CHM13v2.0242,355,900 - 42,374,398 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319038   ⟹   NP_001305967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,335,559 - 42,361,217 (-)NCBI
CHM1_1242,492,134 - 42,517,830 (-)NCBI
T2T-CHM13v2.0242,340,963 - 42,366,635 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319040   ⟹   NP_001305969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,350,502 - 42,361,217 (-)NCBI
CHM1_1242,507,069 - 42,517,830 (-)NCBI
T2T-CHM13v2.0242,355,906 - 42,366,635 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004718   ⟹   NP_004709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,349,338 - 42,361,217 (-)NCBI
GRCh37242,577,640 - 42,596,150 (-)NCBI
Build 36242,431,146 - 42,441,860 (-)NCBI Archive
Celera242,417,924 - 42,428,640 (-)RGD
HuRef242,312,008 - 42,322,727 (-)RGD
CHM1_1242,507,069 - 42,517,830 (-)NCBI
T2T-CHM13v2.0242,354,742 - 42,366,635 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134947
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,349,338 - 42,361,217 (-)NCBI
CHM1_1242,507,069 - 42,517,830 (-)NCBI
T2T-CHM13v2.0242,354,742 - 42,366,635 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134948
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,349,338 - 42,360,038 (-)NCBI
CHM1_1242,507,069 - 42,516,621 (-)NCBI
T2T-CHM13v2.0242,354,742 - 42,365,452 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446291   ⟹   XP_047302247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,349,338 - 42,368,957 (-)NCBI
RefSeq Acc Id: XM_054344504   ⟹   XP_054200479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0242,354,742 - 42,374,398 (-)NCBI
RefSeq Acc Id: NP_004709   ⟸   NM_004718
- Peptide Label: isoform a
- UniProtKB: Q9P118 (UniProtKB/Swiss-Prot),   O14548 (UniProtKB/Swiss-Prot),   Q6FGA0 (UniProtKB/TrEMBL),   D6W5A1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305967   ⟸   NM_001319038
- Peptide Label: isoform c
- UniProtKB: E5RJZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305966   ⟸   NM_001319037
- Peptide Label: isoform b
- UniProtKB: Q6FGA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305965   ⟸   NM_001319036
- Peptide Label: isoform a
- UniProtKB: Q9P118 (UniProtKB/Swiss-Prot),   O14548 (UniProtKB/Swiss-Prot),   Q6FGA0 (UniProtKB/TrEMBL),   D6W5A1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305969   ⟸   NM_001319040
- Peptide Label: isoform d
- UniProtKB: E5RJZ1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000431039   ⟸   ENST00000463055
Ensembl Acc Id: ENSP00000428873   ⟸   ENST00000464443
Ensembl Acc Id: ENSP00000429237   ⟸   ENST00000468711
Ensembl Acc Id: ENSP00000367938   ⟸   ENST00000378669
Ensembl Acc Id: ENSP00000234301   ⟸   ENST00000234301
RefSeq Acc Id: XP_047302247   ⟸   XM_047446291
- Peptide Label: isoform X1
- UniProtKB: O14548 (UniProtKB/Swiss-Prot),   Q9P118 (UniProtKB/Swiss-Prot),   D6W5A1 (UniProtKB/TrEMBL),   Q6FGA0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200479   ⟸   XM_054344504
- Peptide Label: isoform X1
- UniProtKB: O14548 (UniProtKB/Swiss-Prot),   Q9P118 (UniProtKB/Swiss-Prot),   D6W5A1 (UniProtKB/TrEMBL),   Q6FGA0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14548-F1-model_v2 AlphaFold O14548 1-114 view protein structure

Promoters
RGD ID:6860172
Promoter ID:EPDNEW_H3251
Type:initiation region
Name:COX7A2L_1
Description:cytochrome c oxidase subunit 7A2 like
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
GRCh38242,361,217 - 42,361,277EPDNEW
RGD ID:6797011
Promoter ID:HG_KWN:32390
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000325855
Position:
Human AssemblyChrPosition (strand)Source
Build 36242,440,031 - 42,441,002 (-)MPROMDB
RGD ID:6797205
Promoter ID:HG_KWN:32391
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397185,   ENST00000407053,   OTTHUMT00000325858,   OTTHUMT00000325859,   OTTHUMT00000325860,   UC002RSK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36242,441,691 - 42,442,307 (-)MPROMDB
RGD ID:6850712
Promoter ID:EP73150
Type:multiple initiation site
Name:HS_COX7A2L
Description:Cytochrome c oxidase subunit VIIa polypeptide 2 like , nucleargene encoding mitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36242,441,860 - 42,441,920EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2289 AgrOrtholog
COSMIC COX7A2L COSMIC
Ensembl Genes ENSG00000115944 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000234301 ENTREZGENE
  ENST00000234301.3 UniProtKB/Swiss-Prot
  ENST00000378669 ENTREZGENE
  ENST00000378669.5 UniProtKB/Swiss-Prot
  ENST00000463055.1 UniProtKB/TrEMBL
  ENST00000464443.5 UniProtKB/TrEMBL
  ENST00000468711.5 UniProtKB/TrEMBL
Gene3D-CATH 4.10.91.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115944 GTEx
HGNC ID HGNC:2289 ENTREZGENE
Human Proteome Map COX7A2L Human Proteome Map
InterPro COX7a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su7a-rel_mt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su7a_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytc_oxidase_su7a_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9167 ENTREZGENE
OMIM 605771 OMIM
PANTHER PTHR10510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10510:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX7a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26807 PharmGKB
PIRSF COX7A-rel_mt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81419 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COX7R_HUMAN UniProtKB/Swiss-Prot
  D6W5A1 ENTREZGENE
  E5RFH8_HUMAN UniProtKB/TrEMBL
  E5RJZ1 ENTREZGENE, UniProtKB/TrEMBL
  H0YBD2_HUMAN UniProtKB/TrEMBL
  O14548 ENTREZGENE
  Q6FGA0 ENTREZGENE, UniProtKB/TrEMBL
  Q9P118 ENTREZGENE
UniProt Secondary D6W5A1 UniProtKB/TrEMBL
  Q9P118 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX7A2L  cytochrome c oxidase subunit 7A2 like  COX7A2L  cytochrome c oxidase subunit VIIa polypeptide 2 like  Symbol and/or name change 5135510 APPROVED