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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX5B | Human | Myocardial Ischemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16214533 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX5B | Human | Myocardial Ischemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16214533 | |
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# | 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 |
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 |
COX5B (Homo sapiens - human) |
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Cox5b (Mus musculus - house mouse) |
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Cox5b (Rattus norvegicus - Norway rat) |
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LOC102024993 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100972878 (Pan paniscus - bonobo/pygmy chimpanzee) |
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COX5B (Canis lupus familiaris - dog) |
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LOC101965209 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COX5B (Sus scrofa - pig) |
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COX5B (Chlorocebus sabaeus - green monkey) |
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LOC101714602 (Heterocephalus glaber - naked mole-rat) |
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Variants in COX5B
8 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH11516 |
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GDB:384878 |
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RH66826 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NM_001862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC017099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC006229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT006742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ577470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ900996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M19961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M59250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U41284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000258424 ⟹ ENSP00000258424 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000464949 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000491989 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000494306 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001862 ⟹ NP_001853 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001853 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA52060 | (Get FASTA) | NCBI Sequence Viewer |
AAA52061 | (Get FASTA) | NCBI Sequence Viewer | |
AAB19185 | (Get FASTA) | NCBI Sequence Viewer | |
AAH06229 | (Get FASTA) | NCBI Sequence Viewer | |
AAP35388 | (Get FASTA) | NCBI Sequence Viewer | |
AAY24279 | (Get FASTA) | NCBI Sequence Viewer | |
ADO22513 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46528 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46553 | (Get FASTA) | NCBI Sequence Viewer | |
EAX01930 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000258424 | ||
ENSP00000258424.2 | |||
ENSP00000517083.1 | |||
GenBank Protein | P10606 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P10606-F1-model_v2 | AlphaFold | P10606 | 1-129 | view protein structure |
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: |
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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: |
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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 |
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 |