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    COX4I2 cytochrome c oxidase subunit 4I2 [ Homo sapiens (human) ]

    Gene ID: 84701, updated on 11-Jun-2021

    Summary

    Official Symbol
    COX4I2provided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 4I2provided by HGNC
    Primary source
    HGNC:HGNC:16232
    See related
    Ensembl:ENSG00000131055 MIM:607976
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX4; COX4B; COX4-2; COX4L2; COXIV-2; dJ857M17.2
    Summary
    Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 32.5), lung (RPKM 10.0) and 6 other tissues See more
    Orthologs
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    Genomic context

    See COX4I2 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31637856..31645009)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30225715..30232809)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr20.845 Neighboring gene CRISPRi-validated cis-regulatory element chr20.846 Neighboring gene VISTA enhancer hs2050 Neighboring gene BCL2 like 1 Neighboring gene BCL2L1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 251

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    cytochrome c oxidase subunit 4 isoform 2, mitochondrial
    Names
    COX IV-2
    cytochrome c oxidase subunit IV-like 2
    NP_115998.2
    XP_005260636.1
    XP_005260637.1
    XP_005260638.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012180.1 RefSeqGene

      Range
      5025..12119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032609.3NP_115998.2  cytochrome c oxidase subunit 4 isoform 2, mitochondrial

      See identical proteins and their annotated locations for NP_115998.2

      Status: REVIEWED

      Source sequence(s)
      AL117381
      Consensus CDS
      CCDS13187.1
      UniProtKB/Swiss-Prot
      Q96KJ9
      UniProtKB/TrEMBL
      H6SG14
      Related
      ENSP00000365243.3, ENST00000376075.4
      Conserved Domains (1) summary
      cd00922
      Location:39164
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      31637856..31645009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260581.3XP_005260638.1  cytochrome c oxidase subunit 4 isoform 2, mitochondrial isoform X3

      Conserved Domains (1) summary
      cl02792
      Location:40126
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    2. XM_005260580.4XP_005260637.1  cytochrome c oxidase subunit 4 isoform 2, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl02792
      Location:45131
      Cyt_c_Oxidase_IV; Cytochrome c oxidase subunit IV. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
    3. XM_005260579.4XP_005260636.1  cytochrome c oxidase subunit 4 isoform 2, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam02936
      Location:45175
      COX4; Cytochrome c oxidase subunit IV
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