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FLASH GENE
Symbol COX4I2 contributors: mct/npt - updated : 23-05-2014
HGNC name cytochrome c oxidase subunit IV isoform 2 (lung)
HGNC id 16232
Corresponding disease
COX4I2D COX4I2 deficiency
Location 20q11.21      Physical location : 30.225.690 - 30.232.800
Synonym name
  • cytochrome c oxidase subunit 4 isoform 2, mitochondrial
  • cytochrome c oxidase subunit IV-like 2
  • Synonym symbol(s) COX4, COX4B, COXIV-2, COX4L2, COXIV-2, dJ857M17.2, COX4-2, CcO4-2
    EC.number 1.9.3.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head with NOC4
    STRUCTURE 7.11 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • common with NOC4
  • promoter activity localized within a 118-bp proximal region, is stimulated by hypoxia
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 684 20 171 - Huttemann (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Cox4b
    Homologene
    FAMILY
  • cytochrome c oxidase IV family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,nucleus
    basic FUNCTION
  • largest nuclear encoded subunit which plays a pivotal role in COX regulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of the cytochrome oxidace c (ferrocytochrome c : oxygen oxidoreductase) complex,terminal enzyme in the mitochondrial respiratory chain (oxidative phosphorylation OXPHOS), catalyzing the elctron transfer from reduced cytochrome c to molecule oxygen
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in the nucleus CHCHD2 is a transactivator of COX4I2 and other hypoxia-stimulated genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COX4I2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS