COX5B (cytochrome c oxidase subunit 5B) - Rat Genome Database

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Gene: COX5B (cytochrome c oxidase subunit 5B) Homo sapiens
Analyze
Symbol: COX5B
Name: cytochrome c oxidase subunit 5B
RGD ID: 734145
HGNC Page HGNC:2269
Description: Predicted to enable cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. Part of mitochondrial membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXVB; cytochrome c oxidase polypeptide VB, mitochondrial; cytochrome c oxidase subunit 5B, mitochondrial; cytochrome c oxidase subunit Vb
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: COX5BP1   COX5BP2   COX5BP3   COX5BP4   COX5BP5   COX5BP6   COX5BP7   COX5BP8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38297,646,062 - 97,648,383 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl297,646,062 - 97,648,383 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,262,525 - 98,264,846 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36297,628,953 - 97,631,089 (+)NCBINCBI36Build 36hg18NCBI36
Build 34297,721,038 - 97,723,174NCBI
Celera292,466,522 - 92,468,658 (+)NCBICelera
Cytogenetic Map2q11.2ENTREZGENE
HuRef292,028,218 - 92,030,354 (+)NCBIHuRef
CHM1_1298,266,878 - 98,269,014 (+)NCBICHM1_1
T2T-CHM13v2.0298,104,283 - 98,106,604 (+)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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
astaxanthin  (ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (ISO)
Brodifacoum  (ISO)
cadmium acetate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chloropicrin  (EXP)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (ISO)
crocidolite asbestos  (ISO)
D-glucose  (ISO)
deoxynivalenol  (EXP)
dextran sulfate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
glafenine  (ISO)
glucose  (ISO)
glyphosate  (ISO)
graphite  (ISO)
heptachlor  (ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP)
isoniazide  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (EXP)
lamivudine  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylparaben  (EXP)
myricetin  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (EXP,ISO)
ozone  (ISO)
paraquat  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
sarin  (ISO)
SB 431542  (EXP)
scopolamine  (ISO)
streptozocin  (ISO)
succimer  (EXP)
sulforaphane  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (EXP)
thapsigargin  (ISO)
theophylline  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zidovudine  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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. The profile of cardiac cytochrome c oxidase (COX) expression in an accelerated cardiac-hypertrophy model. Kuo WW, etal., J Biomed Sci. 2005;12(4):601-10. Epub 2005 Nov 10.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1646156   PMID:2162812   PMID:2840351   PMID:8313870   PMID:8806766   PMID:9030264   PMID:10915781   PMID:11719263   PMID:12477932   PMID:15231747   PMID:15489334   PMID:16196087  
PMID:16751776   PMID:17353931   PMID:17500595   PMID:18029348   PMID:19834492   PMID:19851296   PMID:20198315   PMID:20877624   PMID:21139048   PMID:21516116   PMID:21873635   PMID:21890473  
PMID:22419111   PMID:22658674   PMID:22917272   PMID:22939629   PMID:23000965   PMID:23376485   PMID:24344204   PMID:24816145   PMID:25416956   PMID:25544563   PMID:25959826   PMID:26058080  
PMID:26344197   PMID:26496610   PMID:26506233   PMID:27342126   PMID:28592145   PMID:29053956   PMID:29111436   PMID:29568061   PMID:30021884   PMID:30030519   PMID:30097533   PMID:30884312  
PMID:31056398   PMID:31091453   PMID:31170524   PMID:31182584   PMID:31280487   PMID:31515488   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31617661   PMID:32296183   PMID:32628020  
PMID:32812023   PMID:32814053   PMID:32838362   PMID:32877691   PMID:32989298   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34446781   PMID:34709727   PMID:34800366   PMID:35013218  
PMID:35013556   PMID:35032548   PMID:35140242   PMID:35271311   PMID:35944360   PMID:36168628   PMID:36369321   PMID:36490346   PMID:36538041   PMID:36736316   PMID:37071682   PMID:37223481  
PMID:38971138  


Genomics

Comparative Map Data
COX5B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38297,646,062 - 97,648,383 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl297,646,062 - 97,648,383 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,262,525 - 98,264,846 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36297,628,953 - 97,631,089 (+)NCBINCBI36Build 36hg18NCBI36
Build 34297,721,038 - 97,723,174NCBI
Celera292,466,522 - 92,468,658 (+)NCBICelera
Cytogenetic Map2q11.2ENTREZGENE
HuRef292,028,218 - 92,030,354 (+)NCBIHuRef
CHM1_1298,266,878 - 98,269,014 (+)NCBICHM1_1
T2T-CHM13v2.0298,104,283 - 98,106,604 (+)NCBIT2T-CHM13v2.0
Cox5b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39136,730,568 - 36,732,469 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl136,730,530 - 36,732,762 (+)EnsemblGRCm39 Ensembl
GRCm38136,691,487 - 36,693,388 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl136,691,449 - 36,693,681 (+)EnsemblGRCm38mm10GRCm38
MGSCv37136,748,332 - 36,750,233 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36136,636,084 - 36,637,931 (+)NCBIMGSCv36mm8
Celera136,478,001 - 36,479,902 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map115.38NCBI
Cox5b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8946,417,735 - 46,419,664 (+)NCBIGRCr8
mRatBN7.2938,921,980 - 38,923,806 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl938,921,967 - 38,925,052 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx947,425,120 - 47,426,948 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0952,540,773 - 52,542,599 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0950,822,671 - 50,824,497 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0943,259,706 - 43,262,039 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl943,259,709 - 43,262,040 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0942,912,214 - 42,914,547 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4935,625,478 - 35,627,304 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1935,626,891 - 35,628,718 (+)NCBI
Celera936,688,358 - 36,690,184 (+)NCBICelera
Cytogenetic Map9q21NCBI
LOC102024993
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554704,321,555 - 4,324,824 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554704,321,555 - 4,323,449 (+)NCBIChiLan1.0ChiLan1.0
LOC100972878
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21230,807,917 - 30,810,670 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A30,810,678 - 30,813,320 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A101,675,232 - 101,677,417 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A98,544,980 - 98,547,502 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A98,544,980 - 98,547,502 (+)Ensemblpanpan1.1panPan2
COX5B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11044,979,654 - 44,991,620 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1044,979,654 - 44,991,703 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1044,906,755 - 44,912,985 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01045,855,804 - 45,867,780 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1045,855,801 - 45,862,133 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11045,567,657 - 45,573,888 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01045,853,736 - 45,859,974 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01046,037,104 - 46,043,336 (-)NCBIUU_Cfam_GSD_1.0
LOC101965209
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629283,669,097 - 83,670,860 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936744921,888 - 923,803 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX5B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl356,629,272 - 56,632,119 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1356,630,297 - 56,632,107 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2359,376,451 - 59,378,263 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX5B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1141,331,853 - 1,334,144 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041168,772,779 - 168,775,319 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101714602
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247492,837,078 - 2,840,048 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247492,837,030 - 2,838,880 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX5B
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3 copy number gain See cases [RCV000052667] Chr2:97634165..97841153 [GRCh38]
Chr2:98250628..98457616 [GRCh37]
Chr2:97617060..97824048 [NCBI36]
Chr2:2q11.2
uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1
pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2
pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3 copy number gain See cases [RCV000143678] Chr2:97422165..98203456 [GRCh38]
Chr2:98017406..98819919 [GRCh37]
Chr2:97383545..98186351 [NCBI36]
Chr2:2q11.2
likely benign|uncertain significance
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 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q11.2(chr2:98263858-98274890)x3 copy number gain See cases [RCV000446435] Chr2:98263858..98274890 [GRCh37]
Chr2:2q11.2
benign
GRCh37/hg19 2q11.2(chr2:98262523-98274890)x3 copy number gain See cases [RCV000446022] Chr2:98262523..98274890 [GRCh37]
Chr2:2q11.2
benign
GRCh37/hg19 2q11.2(chr2:98264419-98274890)x3 copy number gain See cases [RCV000448745] Chr2:98264419..98274890 [GRCh37]
Chr2:2q11.2
likely benign
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2
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
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2
uncertain significance
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 2q11.2(chr2:98021533-98274335)x3 copy number gain not provided [RCV000659236] Chr2:98021533..98274335 [GRCh37]
Chr2:2q11.2
likely benign
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
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 2q11.2(chr2:98148091-98274527)x3 copy number gain not provided [RCV000740530] Chr2:98148091..98274527 [GRCh37]
Chr2:2q11.2
benign
GRCh37/hg19 2q11.2(chr2:98197031-98265565)x1 copy number loss not provided [RCV000740531] Chr2:98197031..98265565 [GRCh37]
Chr2:2q11.2
benign
GRCh37/hg19 2q11.2(chr2:98261636-98407168)x3 copy number gain not provided [RCV000740532] Chr2:98261636..98407168 [GRCh37]
Chr2:2q11.2
benign
NM_001862.3(COX5B):c.301G>A (p.Val101Ile) single nucleotide variant not specified [RCV004290780] Chr2:97648019 [GRCh38]
Chr2:98264482 [GRCh37]
Chr2:2q11.2
likely benign
NM_001862.3(COX5B):c.93G>T (p.Met31Ile) single nucleotide variant not specified [RCV004298816] Chr2:97646179 [GRCh38]
Chr2:98262642 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2
likely pathogenic
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
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_001862.3(COX5B):c.335G>A (p.Arg112Gln) single nucleotide variant not specified [RCV004325271] Chr2:97648053 [GRCh38]
Chr2:98264516 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001862.3(COX5B):c.12G>C (p.Arg4Ser) single nucleotide variant not specified [RCV004179408] Chr2:97646098 [GRCh38]
Chr2:98262561 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001862.3(COX5B):c.34C>G (p.Leu12Val) single nucleotide variant not specified [RCV004177577] Chr2:97646120 [GRCh38]
Chr2:98262583 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001862.3(COX5B):c.29G>A (p.Gly10Glu) single nucleotide variant not specified [RCV004247989] Chr2:97646115 [GRCh38]
Chr2:98262578 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3 copy number gain not provided [RCV003484072] Chr2:98165095..98974536 [GRCh37]
Chr2:2q11.2
uncertain significance
NM_001862.3(COX5B):c.21C>T (p.Arg7=) single nucleotide variant not provided [RCV003429193] Chr2:97646107 [GRCh38]
Chr2:98262570 [GRCh37]
Chr2:2q11.2
likely benign
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2
likely pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 copy number gain not provided [RCV003484071] Chr2:96732520..99142320 [GRCh37]
Chr2:2q11.1-11.2
uncertain significance
NM_001862.3(COX5B):c.325G>A (p.Glu109Lys) single nucleotide variant not specified [RCV004372270] Chr2:97648043 [GRCh38]
Chr2:98264506 [GRCh37]
Chr2:2q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:473
Count of miRNA genes:300
Interacting mature miRNAs:309
Transcripts:ENST00000258424, ENST00000464949, ENST00000491989, ENST00000494306
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298432OSTEAR10_HOsteoarthritis QTL 10 (human)2.340.0001Joint/bone inflammationdistal interphalangeal joint osteoarthritis297592766106657498Human

Markers in Region
RH11516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37298,263,814 - 98,264,483UniSTSGRCh37
Build 36297,630,246 - 97,630,915RGDNCBI36
Celera292,467,815 - 92,468,484RGD
Cytogenetic Map2q11.2UniSTS
HuRef292,029,511 - 92,030,180UniSTS
GeneMap99-GB4 RH Map2354.32UniSTS
GDB:384878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37298,264,638 - 98,264,822UniSTSGRCh37
Build 36297,631,070 - 97,631,254RGDNCBI36
Celera292,468,639 - 92,468,823RGD
Cytogenetic Map2q11.2UniSTS
HuRef292,030,335 - 92,030,519UniSTS
RH66826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37298,263,809 - 98,264,483UniSTSGRCh37
Celera292,467,810 - 92,468,484UniSTS
Cytogenetic Map2q11.2UniSTS
HuRef292,029,506 - 92,030,180UniSTS
GeneMap99-GB4 RH Map2355.36UniSTS


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 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000258424   ⟹   ENSP00000258424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,646,062 - 97,648,383 (+)Ensembl
Ensembl Acc Id: ENST00000464949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,646,097 - 97,648,191 (+)Ensembl
Ensembl Acc Id: ENST00000491989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,646,289 - 97,648,179 (+)Ensembl
Ensembl Acc Id: ENST00000494306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl297,646,441 - 97,647,381 (+)Ensembl
RefSeq Acc Id: NM_001862   ⟹   NP_001853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38297,646,062 - 97,648,383 (+)NCBI
GRCh37298,262,521 - 98,264,657 (+)ENTREZGENE
Build 36297,628,953 - 97,631,089 (+)NCBI Archive
HuRef292,028,218 - 92,030,354 (+)ENTREZGENE
CHM1_1298,266,878 - 98,269,014 (+)NCBI
T2T-CHM13v2.0298,104,283 - 98,106,604 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001853   ⟸   NM_001862
- Peptide Label: precursor
- UniProtKB: Q96J18 (UniProtKB/Swiss-Prot),   Q53YB7 (UniProtKB/Swiss-Prot),   Q99610 (UniProtKB/Swiss-Prot),   P10606 (UniProtKB/Swiss-Prot),   A0A384NL93 (UniProtKB/TrEMBL),   Q6FHJ9 (UniProtKB/TrEMBL),   Q6FHM4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000258424   ⟸   ENST00000258424

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10606-F1-model_v2 AlphaFold P10606 1-129 view protein structure

Promoters
RGD ID:6797005
Promoter ID:HG_KWN:34018
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:OTTHUMT00000252972,   OTTHUMT00000329290,   OTTHUMT00000329291,   OTTHUMT00000329292
Position:
Human AssemblyChrPosition (strand)Source
Build 36297,628,699 - 97,629,199 (+)MPROMDB
RGD ID:6861108
Promoter ID:EPDNEW_H3719
Type:initiation region
Name:COX5B_1
Description:cytochrome c oxidase subunit 5B
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
GRCh38297,646,068 - 97,646,128EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2269 AgrOrtholog
COSMIC COX5B COSMIC
Ensembl Genes ENSG00000135940 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291596 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258424 ENTREZGENE
  ENST00000258424.3 UniProtKB/Swiss-Prot
  ENST00000708077.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.11.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135940 GTEx
  ENSG00000291596 GTEx
HGNC ID HGNC:2269 ENTREZGENE
Human Proteome Map COX5B Human Proteome Map
InterPro Cyt_c_oxidase_su5b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su5b_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1329 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1329 ENTREZGENE
OMIM 123866 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT 5B, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10122 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX5B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26786 PharmGKB
PROSITE COX5B_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COX5B_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS00008C1BC5 RNACentral
  URS00027EC857 RNACentral
Superfamily-SCOP Rubredoxin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NL93 ENTREZGENE, UniProtKB/TrEMBL
  COX5B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53YB7 ENTREZGENE
  Q6FHJ9 ENTREZGENE, UniProtKB/TrEMBL
  Q6FHM4 ENTREZGENE, UniProtKB/TrEMBL
  Q96J18 ENTREZGENE
  Q99610 ENTREZGENE
UniProt Secondary Q53YB7 UniProtKB/Swiss-Prot
  Q96J18 UniProtKB/Swiss-Prot
  Q99610 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX5B  cytochrome c oxidase subunit 5B  COX5B  cytochrome c oxidase subunit Vb  Symbol and/or name change 5135510 APPROVED