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FLASH GENE
Symbol COX7B contributors: npt/mct - updated : 06-12-2012
HGNC name cytochrome c oxidase subunit VIIb
HGNC id 2291
Corresponding disease
MLS2 microphthalmia linear skin defects 2
Location Xq21.1      Physical location : 77.154.960 - 77.160.881
Synonym name cytochrome c oxidase polypeptide 7B, mitochondrial
Synonym symbol(s) COXM
EC.number 1.9.3.1
DNA
TYPE functioning gene
STRUCTURE 5.92 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC389874 X cellular nucleic acid binding protein-like LOC392497 X similar to 40S ribosomal protein S6 (Phosphoprotein NP33) LOC286493 Xq13.2 similar to Interferon-inducible, double stranded RNA dependent inhibitor, protein-kinase LOC392498 X similar to 40S ribosomal protein S7 (S8) SLC16A2 Xq13.2 solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter) PABPCP3 Xq13 poly(A) binding protein, cytoplasmic, pseudogene 3 RNF12 Xq13-q21 ring finger protein 12 KIAA2022 Xq13.2 KIAA2022 protein ABCB7 Xq13 ATP-binding cassette, sub-family B (MDR/TAP), member 7 MGC23937 Xq13.2 hypothetical protein MGC23937 similar to CG4798 LOC389875 X similar to telomeric repeat binding factor 1 isoform 2; Telomeric repeat binding factor 1; telomeric repeat binding protein 1 ZDHHC15 Xq13.1 zinc finger, DHHC domain containing 15 BRAF2 Xq13.2 similar to v-raf murine sarcoma viral oncogene homolog B1 pseudogene LOC286495 Xq13.2 similar to Tetratricopeptide repeat protein 3 (TPR repeat protein D) HCA3 Xq13.2 hepatocellular carcinoma-associated protein HCA3 MGC874 Xq13.2 hypothetical protein MGC874 LDHBP Xq13.2-q13.3 lactate dehydrogenase B pseudogene KIAA1587 Xq13.2 hepatocellular carcinoma-associated protein HCA1 LOC392499 X similar to hypothetical protein FLJ13611 ATRX Xq13.3 alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) DKFZp564K142 Xq13.3 implantation-associated protein COX7B Xq13.1 cytochrome c oxidase subunit VIIb ATP7A Xq13.3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) PGK1 Xq13.3 phosphoglycerate kinase 1 TAF9L Xq13.1-q21.1 TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa CYSLTR1 Xq13-q21 cysteinyl leukotriene receptor 1 ZCCHC5 Xq13.3 zinc finger, CCHC domain containing 5 GPR23 Xq13-q21.1 G protein-coupled receptor 23 P2RY10 Xq21.1 purinergic receptor P2Y, G-protein coupled, 10 FKSG79 Xq13.3 putative purinergic receptor LOC347363 Xq13.3 similar to Chromosome-associated kinesin KIF4A (Chromokinesin) ITM2A Xq13.3-q21.2 integral membrane protein 2A TBX22 Xq21.1 T-box 22 MGC26999 Xq21.1 hypothetical protein MGC26999 LOC347364 Xq21.1 similar to WW domain binding protein 11; Npw38-binding protein NpwBP; SH3 domain-binding protein SNP70 LOC286425 Xq21.1 similar to hexokinase 2; hexokinase-2, muscle FLJ38568 Xq21.1 hypothetical protein FLJ38568 LOC286426 Xq21.1 similar to Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) NSBP1 Xq13.3 nucleosomal binding protein 1 SH3BGRL Xq13.3 SH3 domain binding glutamic acid-rich protein like
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 456 9 80 - 2002 11827944
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineparathyroid   highly
Hearing/Equilibriumear   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 24 AA leader sequence
  • mono polymer heteromer
    HOMOLOGY
    interspecies homolog to murine Cox7b
    Homologene
    FAMILY
  • cytochrome c oxidase VIIb family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial
  • electron transport
  • terminal enzyme in the mitochondrial respiratory chain (oxidative phosphorylation OXPHOS), catalyzing the electron transfer from reduced cytochrome c to molecule oxygen
  • indispensable for COX assembly, COX activity, and mitochondrial respiration
  • plays a role in eye development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of the cytochrome oxidase c (ferrocytochrome c: oxygen oxidoreductase) complex
  • heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural
  • subunits encoded by nuclear genes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MLS2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS