COX5A (cytochrome c oxidase subunit 5A) - Rat Genome Database

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Gene: COX5A (cytochrome c oxidase subunit 5A) Homo sapiens
Analyze
Symbol: COX5A
Name: cytochrome c oxidase subunit 5A
RGD ID: 732301
HGNC Page HGNC:2267
Description: Predicted to enable cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrial inner membrane. Part of mitochondrial membrane and respiratory chain complex IV. Implicated in mitochondrial complex IV deficiency nuclear type 20.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COX; COX-VA; cytochrome c oxidase polypeptide Va; cytochrome c oxidase polypeptide, mitochondrial; cytochrome c oxidase subunit 5A, mitochondrial; cytochrome c oxidase subunit Va; cytochrome c oxidase, subunit va; MC4DN20; mitochondrial cytochrome c oxidase subunit Va; VA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: COX5AP1   COX5AP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,919,791 - 74,938,073 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,919,791 - 74,938,083 (-)EnsemblGRCh38hg38GRCh38
GRCh371575,212,132 - 75,230,414 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,999,672 - 73,017,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 341572,999,671 - 73,017,425NCBI
Celera1552,162,990 - 52,180,882 (-)NCBICelera
Cytogenetic Map15q24.2NCBI
HuRef1552,009,425 - 52,027,208 (-)NCBIHuRef
CHM1_11575,331,219 - 75,349,083 (-)NCBICHM1_1
T2T-CHM13v2.01572,789,676 - 72,807,970 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (ISO)
aflatoxin B1  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
ampicillin  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
astaxanthin  (ISO)
atrazine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Brodifacoum  (ISO)
cadmium acetate  (ISO)
capsaicin  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furfural  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
hexadecanoic acid  (ISO)
hydrogen peroxide  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lamivudine  (ISO)
leflunomide  (ISO)
limonene  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lovastatin  (ISO)
maneb  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
metronidazole  (ISO)
microcystin RR  (EXP)
minocycline  (ISO)
neomycin  (ISO)
nitrates  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
pinosylvin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (EXP)
sarin  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium fluoride  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trans-pinosylvin  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
warfarin  (ISO)
zidovudine  (EXP,ISO)

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 Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2853101   PMID:7498159   PMID:8313870   PMID:10072584   PMID:12477932   PMID:14607829   PMID:15101818   PMID:16169070   PMID:17353931   PMID:17500595   PMID:18197981   PMID:19393246  
PMID:19834492   PMID:20307258   PMID:20877624   PMID:21490707   PMID:21873635   PMID:22190034   PMID:22419111   PMID:22748147   PMID:22939629   PMID:23362268   PMID:23376485   PMID:24711643  
PMID:24981860   PMID:25416956   PMID:25437307   PMID:25737280   PMID:26058080   PMID:26344197   PMID:26493215   PMID:26496610   PMID:26759378   PMID:27432908   PMID:27499296   PMID:28247525  
PMID:28514442   PMID:29128334   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29791485   PMID:29955050   PMID:30030519   PMID:30033366   PMID:30097533   PMID:30462309   PMID:30804502  
PMID:30833792   PMID:30884312   PMID:30927234   PMID:31056398   PMID:31182584   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31871319   PMID:31980649   PMID:32203420  
PMID:32296183   PMID:32344865   PMID:32628020   PMID:32758616   PMID:32814053   PMID:32838362   PMID:32877691   PMID:32913203   PMID:32989298   PMID:33301849   PMID:33306668   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34709727   PMID:34800366   PMID:34901782   PMID:35013218   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35563538   PMID:35944360   PMID:36215168  
PMID:36217030   PMID:36225252   PMID:36373674   PMID:37071682   PMID:37373547   PMID:37616343   PMID:37891386  


Genomics

Comparative Map Data
COX5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381574,919,791 - 74,938,073 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1574,919,791 - 74,938,083 (-)EnsemblGRCh38hg38GRCh38
GRCh371575,212,132 - 75,230,414 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,999,672 - 73,017,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 341572,999,671 - 73,017,425NCBI
Celera1552,162,990 - 52,180,882 (-)NCBICelera
Cytogenetic Map15q24.2NCBI
HuRef1552,009,425 - 52,027,208 (-)NCBIHuRef
CHM1_11575,331,219 - 75,349,083 (-)NCBICHM1_1
T2T-CHM13v2.01572,789,676 - 72,807,970 (-)NCBIT2T-CHM13v2.0
Cox5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,423,012 - 57,439,710 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl957,428,557 - 57,439,709 (+)EnsemblGRCm39 Ensembl
GRCm38957,517,328 - 57,532,427 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl957,521,274 - 57,532,426 (+)EnsemblGRCm38mm10GRCm38
MGSCv37957,369,039 - 57,380,234 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36957,319,443 - 57,330,561 (+)NCBIMGSCv36mm8
Celera954,756,801 - 54,768,000 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.05NCBI
Cox5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8866,818,284 - 66,829,691 (+)NCBIGRCr8
mRatBN7.2857,922,374 - 57,933,781 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl857,922,290 - 57,933,781 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx124,621,194 - 4,621,793 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0125,244,830 - 5,245,429 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0859,597,297 - 59,608,688 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0862,298,358 - 62,309,765 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl862,298,358 - 62,309,765 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0862,075,344 - 62,087,001 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4861,264,971 - 61,276,380 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1861,284,024 - 61,295,434 (+)NCBI
Celera857,388,557 - 57,399,970 (+)NCBICelera
Cytogenetic Map8q24NCBI
LOC102005653
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,035,815 - 3,051,507 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554503,036,387 - 3,049,121 (+)NCBIChiLan1.0ChiLan1.0
LOC100988094
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21664,145,956 - 64,164,031 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11568,309,656 - 68,327,659 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01553,860,721 - 53,878,699 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11573,481,320 - 73,512,497 (-)NCBIpanpan1.1PanPan1.1panPan2
COX5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,955,203 - 37,968,111 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,905,827 - 37,968,111 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,887,182 - 37,899,343 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03038,159,602 - 38,172,380 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3038,159,602 - 38,172,380 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13038,112,293 - 38,125,260 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03038,158,708 - 38,171,505 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03038,394,282 - 38,407,115 (-)NCBIUU_Cfam_GSD_1.0
LOC101971648
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640116,026,575 - 116,039,276 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647133,872,842 - 33,887,400 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647133,874,638 - 33,887,377 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl758,622,964 - 58,644,021 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1758,622,969 - 58,644,024 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2763,311,916 - 63,332,455 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1268,533,410 - 8,551,818 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl268,533,453 - 8,552,280 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048133,097,621 - 133,131,704 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101714403
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624894107,034 - 121,020 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624894107,464 - 120,365 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX5A
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2
likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2
not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1 copy number loss not provided [RCV000683707] Chr15:75078195..75862756 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2
likely pathogenic
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3
likely pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_004255.4(COX5A):c.270T>C (p.Asp90=) single nucleotide variant not provided [RCV000923191] Chr15:74926835 [GRCh38]
Chr15:75219176 [GRCh37]
Chr15:15q24.2
likely benign
NM_004255.4(COX5A):c.74C>G (p.Ser25Cys) single nucleotide variant COX5A-related disorder [RCV003905883]|not provided [RCV000964542] Chr15:74937941 [GRCh38]
Chr15:75230282 [GRCh37]
Chr15:15q24.2
likely benign
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NM_004255.4(COX5A):c.314C>T (p.Thr105Ile) single nucleotide variant not specified [RCV004303061] Chr15:74926791 [GRCh38]
Chr15:75219132 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)x1 copy number loss not provided [RCV001006710] Chr15:75039267..75268029 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
NM_004255.4(COX5A):c.319C>T (p.Arg107Cys) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 20 [RCV001255880] Chr15:74926786 [GRCh38]
Chr15:75219127 [GRCh37]
Chr15:15q24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_004255.4(COX5A):c.319C>A (p.Arg107Ser) single nucleotide variant not specified [RCV004610882] Chr15:74926786 [GRCh38]
Chr15:75219127 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.415A>C (p.Ile139Leu) single nucleotide variant not specified [RCV004610883] Chr15:74923695 [GRCh38]
Chr15:75216036 [GRCh37]
Chr15:15q24.2
uncertain significance
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) copy number loss Hearing impairment [RCV002280767] Chr15:74398068..76054094 [GRCh37]
Chr15:15q24.1-24.2
pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:75167794-75459288)x1 copy number loss not provided [RCV002474750] Chr15:75167794..75459288 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 copy number loss not provided [RCV002474580] Chr15:74353736..77884397 [GRCh37]
Chr15:15q24.1-24.3
pathogenic
NM_004255.4(COX5A):c.16C>T (p.Leu6Phe) single nucleotide variant not specified [RCV004186059] Chr15:74937999 [GRCh38]
Chr15:75230340 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.95C>A (p.Ala32Asp) single nucleotide variant not specified [RCV004218765] Chr15:74937920 [GRCh38]
Chr15:75230261 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.161C>G (p.Ala54Gly) single nucleotide variant not specified [RCV004171174] Chr15:74929172 [GRCh38]
Chr15:75221513 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.137A>G (p.Gln46Arg) single nucleotide variant not specified [RCV004203764] Chr15:74929196 [GRCh38]
Chr15:75221537 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.222A>G (p.Ile74Met) single nucleotide variant not specified [RCV004230816] Chr15:74926883 [GRCh38]
Chr15:75219224 [GRCh37]
Chr15:15q24.2
likely benign
NM_004255.4(COX5A):c.145G>C (p.Asp49His) single nucleotide variant not specified [RCV004149517] Chr15:74929188 [GRCh38]
Chr15:75221529 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.89G>A (p.Gly30Asp) single nucleotide variant not specified [RCV004273701] Chr15:74937926 [GRCh38]
Chr15:75230267 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3
pathogenic
NM_004255.4(COX5A):c.56C>G (p.Pro19Arg) single nucleotide variant not provided [RCV003326921] Chr15:74937959 [GRCh38]
Chr15:75230300 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.316G>A (p.Val106Ile) single nucleotide variant not specified [RCV004348182] Chr15:74926789 [GRCh38]
Chr15:75219130 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.65T>A (p.Leu22His) single nucleotide variant not specified [RCV004346868] Chr15:74937950 [GRCh38]
Chr15:75230291 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.36C>T (p.Ala12=) single nucleotide variant not provided [RCV003390544] Chr15:74937979 [GRCh38]
Chr15:75230320 [GRCh37]
Chr15:15q24.2
likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3 copy number gain not specified [RCV003987107] Chr15:74823917..75455431 [GRCh37]
Chr15:15q24.1-24.2
uncertain significance
NM_004255.4(COX5A):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV004372269] Chr15:74937921 [GRCh38]
Chr15:75230262 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.128A>G (p.His43Arg) single nucleotide variant not specified [RCV004372267] Chr15:74929205 [GRCh38]
Chr15:75221546 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.134C>T (p.Ser45Leu) single nucleotide variant not specified [RCV004372268] Chr15:74929199 [GRCh38]
Chr15:75221540 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_004255.4(COX5A):c.266T>G (p.Ile89Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 20 [RCV003890775] Chr15:74926839 [GRCh38]
Chr15:75219180 [GRCh37]
Chr15:15q24.2
pathogenic
NC_000015.9:g.(?_74219125)_(77329517_?)del deletion Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [RCV004583017] Chr15:74219125..77329517 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:771
Count of miRNA genes:430
Interacting mature miRNAs:477
Transcripts:ENST00000322347, ENST00000562233, ENST00000564811, ENST00000567270, ENST00000568517, ENST00000568783
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
597183624GWAS1279698_H7-methylxanthine measurement QTL GWAS1279698 (human)5e-107-methylxanthine measurement157492988474929885Human
597082007GWAS1178081_Hneutrophil count QTL GWAS1178081 (human)2e-14neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)157493246974932470Human
597147572GWAS1243646_Hbody mass index QTL GWAS1243646 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)157492988474929885Human
597083285GWAS1179359_Hneutrophil count QTL GWAS1179359 (human)6e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)157493246974932470Human
597026960GWAS1123034_Hsystolic blood pressure, alcohol drinking QTL GWAS1123034 (human)6e-16systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)157493562874935629Human
597037487GWAS1133561_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS1133561 (human)1e-11response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)157493675974936760Human
597037402GWAS1133476_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS1133476 (human)4e-12response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)157492001674920017Human
597099227GWAS1195301_Hneutrophil percentage of leukocytes QTL GWAS1195301 (human)4e-18neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)157493246974932470Human
597276964GWAS1373038_HAlzheimer disease, polygenic risk score QTL GWAS1373038 (human)6e-10Alzheimer disease, polygenic risk score157492862774928628Human
597124489GWAS1220563_Hcalcium measurement QTL GWAS1220563 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)157492988474929885Human

Markers in Region
STS-AA040864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371455,707,212 - 55,707,430UniSTSGRCh37
Build 361454,776,965 - 54,777,183RGDNCBI36
Celera1435,756,697 - 35,756,915RGD
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map14q22UniSTS
HuRef1435,869,824 - 35,870,042UniSTS
GeneMap99-GB4 RH Map14122.43UniSTS
SHGC-35356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371455,707,169 - 55,707,342UniSTSGRCh37
Build 361454,776,922 - 54,777,095RGDNCBI36
Celera1435,756,654 - 35,756,827RGD
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map14q22UniSTS
HuRef1435,869,781 - 35,869,954UniSTS
GeneMap99-G3 RH Map141828.0UniSTS
RH68089  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q24.1UniSTS
RH78933  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q24.1UniSTS
GeneMap99-GB4 RH Map14120.37UniSTS
NCBI RH Map14513.8UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence


Ensembl Acc Id: ENST00000322347   ⟹   ENSP00000317780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,919,791 - 74,938,073 (-)Ensembl
Ensembl Acc Id: ENST00000562233   ⟹   ENSP00000456253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,920,275 - 74,938,070 (-)Ensembl
Ensembl Acc Id: ENST00000564811   ⟹   ENSP00000456386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,923,594 - 74,938,066 (-)Ensembl
Ensembl Acc Id: ENST00000567270   ⟹   ENSP00000457974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,920,275 - 74,938,080 (-)Ensembl
Ensembl Acc Id: ENST00000568517   ⟹   ENSP00000456314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,920,312 - 74,937,776 (-)Ensembl
Ensembl Acc Id: ENST00000568783   ⟹   ENSP00000455053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1574,920,280 - 74,938,083 (-)Ensembl
RefSeq Acc Id: NM_004255   ⟹   NP_004246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381574,919,791 - 74,938,073 (-)NCBI
GRCh371575,212,616 - 75,230,495 (-)RGD
Build 361572,999,672 - 73,017,425 (-)NCBI Archive
Celera1552,162,990 - 52,180,882 (-)RGD
HuRef1552,009,425 - 52,027,208 (-)RGD
CHM1_11575,331,219 - 75,349,083 (-)NCBI
T2T-CHM13v2.01572,789,676 - 72,807,970 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004246   ⟸   NM_004255
- Peptide Label: precursor
- UniProtKB: P20674 (UniProtKB/Swiss-Prot),   P30045 (UniProtKB/Swiss-Prot),   Q8TB65 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000317780   ⟸   ENST00000322347
Ensembl Acc Id: ENSP00000456253   ⟸   ENST00000562233
Ensembl Acc Id: ENSP00000456386   ⟸   ENST00000564811
Ensembl Acc Id: ENSP00000457974   ⟸   ENST00000567270
Ensembl Acc Id: ENSP00000455053   ⟸   ENST00000568783
Ensembl Acc Id: ENSP00000456314   ⟸   ENST00000568517

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20674-F1-model_v2 AlphaFold P20674 1-150 view protein structure

Promoters
RGD ID:6792188
Promoter ID:HG_KWN:21926
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:OTTHUMT00000286417
Position:
Human AssemblyChrPosition (strand)Source
Build 361573,017,256 - 73,017,756 (-)MPROMDB
RGD ID:7230119
Promoter ID:EPDNEW_H20805
Type:initiation region
Name:COX5A_1
Description:cytochrome c oxidase subunit 5A
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
GRCh381574,938,044 - 74,938,104EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2267 AgrOrtholog
COSMIC COX5A COSMIC
Ensembl Genes ENSG00000178741 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322347 ENTREZGENE
  ENST00000322347.11 UniProtKB/Swiss-Prot
  ENST00000562233.5 UniProtKB/TrEMBL
  ENST00000564811.1 UniProtKB/Swiss-Prot
  ENST00000567270.5 UniProtKB/TrEMBL
  ENST00000568517.1 UniProtKB/TrEMBL
  ENST00000568783.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178741 GTEx
HGNC ID HGNC:2267 ENTREZGENE
Human Proteome Map COX5A Human Proteome Map
InterPro Cyt_c_oxidase_su5A/6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su5A/6_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9377 UniProtKB/Swiss-Prot
NCBI Gene 9377 ENTREZGENE
OMIM 603773 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT 5A, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX5A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26784 PharmGKB
Superfamily-SCOP SSF48479 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COX5A_HUMAN UniProtKB/Swiss-Prot
  H3BNX8_HUMAN UniProtKB/TrEMBL
  H3BRI0_HUMAN UniProtKB/TrEMBL
  H3BRM5_HUMAN UniProtKB/TrEMBL
  H3BV69_HUMAN UniProtKB/TrEMBL
  P20674 ENTREZGENE
  P30045 ENTREZGENE
  Q71UP1_HUMAN UniProtKB/TrEMBL
  Q8TB65 ENTREZGENE
UniProt Secondary P30045 UniProtKB/Swiss-Prot
  Q8TB65 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX5A  cytochrome c oxidase subunit 5A  COX5A  cytochrome c oxidase subunit Va  Symbol and/or name change 5135510 APPROVED