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    COX7A2L cytochrome c oxidase subunit 7A2 like [ Homo sapiens (human) ]

    Gene ID: 9167, updated on 2-Nov-2024

    Summary

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    Official Symbol
    COX7A2Lprovided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 7A2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:2289
    See related
    Ensembl:ENSG00000115944 MIM:605771; AllianceGenome:HGNC:2289
    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
    EB1; SCAF1; SCAFI; SIG81; COX7AR; COX7RP
    Summary
    Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in adrenal (RPKM 37.4), kidney (RPKM 24.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COX7A2L in Genome Data Viewer
    Location:
    2p21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (42335559..42368957, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (42340963..42374398, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42562699..42596097, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42328443-42329270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15642 Neighboring gene MPRA-validated peak3676 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42359847-42360820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42360821-42361792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42367980-42368777 Neighboring gene EML4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42396227-42396879 Neighboring gene HNF1 motif-containing MPRA enhancer 263/264 Neighboring gene EMAP like 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42567158-42568066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42568067-42568974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15645 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:42587530-42588274 and GRCh37_chr2:42588275-42589018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15648 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:42597071-42597572 Neighboring gene potassium voltage-gated channel modifier subfamily G member 3 Neighboring gene small nucleolar RNA SNORD75 Neighboring gene voltage dependent anion channel 1 pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
      Title: COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
    2. COX7A2L establishes a regulatory checkpoint for the biogenesis of Complex III and specific supercomplexes.
      Title: Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics.
    3. COX7AR is a stress-inducible mitochondrial COX subunit that facilitates human breast cancer malignancy
      Title: COX7AR is a Stress-inducible Mitochondrial COX Subunit that Promotes Breast Cancer Malignancy.
    4. COX7A2L is a mitochondrial complex III binding protein that stabilizes the III2+iv supercomplex without affecting respirasome formation.
      Title: COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.
    5. Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 7a
      Title: Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial electron transport, cytochrome c to oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial respirasome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of oxidative phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of respiratory chain complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex IV IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit 7A-related protein, mitochondrial
    Names
    COX7a-related protein
    cytochrome c oxidase subunit VII-related protein
    cytochrome c oxidase subunit VIIa polypeptide 2 like
    cytochrome c oxidase subunit VIIa-related protein
    estrogen receptor binding CpG island

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001319036.1 → NP_001305965.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an upstream promoter and has a longer 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AA890657, AC006038, AK092911
      Consensus CDS
      CCDS1808.1
      UniProtKB/Swiss-Prot
      O14548, Q9P118
      UniProtKB/TrEMBL
      D6W5A1, Q6FGA0
      Related
      ENSP00000367938.1, ENST00000378669.5
      Conserved Domains (1) summary
      cd00928
      Location:56 → 110
      Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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. NM_001319037.1 → NP_001305966.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an upstream promoter and differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA890657, AK092911, CF593726
      UniProtKB/TrEMBL
      Q6FGA0
      Conserved Domains (1) summary
      cd00928
      Location:53 → 107
      Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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. NM_001319038.2 → NP_001305967.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC006038, BF130603, CA336587
      UniProtKB/TrEMBL
      E5RJZ1

    4. NM_001319040.2 → NP_001305969.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AA890657, BC005251, BF130603, CD700827
      UniProtKB/TrEMBL
      E5RJZ1

    5. NM_004718.4 → NP_004709.2  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_004709.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AA890657, AC006038, BC005251, BF130603
      Consensus CDS
      CCDS1808.1
      UniProtKB/Swiss-Prot
      O14548, Q9P118
      UniProtKB/TrEMBL
      D6W5A1, Q6FGA0
      Related
      ENSP00000234301.2, ENST00000234301.3
      Conserved Domains (1) summary
      cd00928
      Location:56 → 110
      Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. 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 ...

    RNA

    1. NR_134947.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction in the 5' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA890657, AC006038, BC005251, BF130603, BI598394

    2. NR_134948.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate first exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA890657, AC006038, AK130281, BC005251

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      42335559..42368957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446291.1 → XP_047302247.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      O14548, Q9P118
      UniProtKB/TrEMBL
      D6W5A1, Q6FGA0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      42340963..42374398 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344504.1 → XP_054200479.1  cytochrome c oxidase subunit 7A-related protein, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      O14548, Q9P118
      UniProtKB/TrEMBL
      D6W5A1, Q6FGA0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14548.2 GenPept UniProtKB/Swiss-Prot:O14548

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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