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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
Title: COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WIAF-1562 (e-PCR)
- UniSTS:65571

RH35811 (e-PCR)
- UniSTS:52583

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)

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 ...
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 ...
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
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
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

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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

42335559..42368957 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

42340963..42374398 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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