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

Gene ID: 9167, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (42335559..42368957, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (42340963..42374398, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics. Lobo-Jarne T, et al. Cell Rep, 2018 Nov 13. PMID 30428348, Free PMC Article
  2. COX7AR is a Stress-inducible Mitochondrial COX Subunit that Promotes Breast Cancer Malignancy. Zhang K, et al. Sci Rep, 2016 Aug 23. PMID 27550821, Free PMC Article
  3. Retention of a duplicate gene through changes in subcellular targeting: an electron transport protein homologue localizes to the golgi. Schmidt TR, et al. J Mol Evol, 2003 Aug. PMID 14562965
  4. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Lee N, et al. Am J Hum Genet, 2001 Feb. PMID 11156535, Free PMC Article
  5. COX7A2L genetic variants determine cardiorespiratory fitness in mice and human. Benegiamo G, et al. Nat Metab, 2022 Oct. PMID 36253618, Free PMC Article

See all (35) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
  
is_active_in mitochondrial respirasome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex IV IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
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_2023_10

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

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