Gene Gene information from NCBI Gene database.
Entrez ID 9167
Gene name Cytochrome c oxidase subunit 7A2 like
Gene symbol COX7A2L
Synonyms (NCBI Gene)
COX7ARCOX7RPEB1SCAF1SCAFISIG81
Chromosome 2
Chromosome location 2p21
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 mitochond
miRNA miRNA information provided by mirtarbase database.
359
miRTarBase ID miRNA Experiments Reference
MIRT029500 hsa-miR-26b-5p Microarray 19088304
MIRT042835 hsa-miR-324-3p CLASH 23622248
MIRT616513 hsa-miR-6835-3p HITS-CLIP 23824327
MIRT616512 hsa-miR-29a-3p HITS-CLIP 23824327
MIRT616511 hsa-miR-29b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity TAS 9418891
GO:0005730 Component Nucleolus IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 27545886
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605771 2289 ENSG00000115944
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14548
Protein name Cytochrome c oxidase subunit 7A2-like, mitochondrial (Cytochrome c oxidase subunit 7A-related protein) (COX7a-related protein) (Cytochrome c oxidase subunit VIIa-related protein) (EB1) (Supercomplex assembly factor 1)
Protein function Assembly factor that mediates the formation of some mitochondrial respiratory supercomplexes (respirasomes), thereby promoting oxidative phosphorylation and energy metabolism (PubMed:27545886, PubMed:30428348, PubMed:33727070, PubMed:36198313).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02238 COX7a 58 110 Cytochrome c oxidase subunit VII Family
Sequence
MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKV
PELQKFFQKADGVPVYLKRGLPDQMLYRTTMALTVGGTIYCLIALYMASQ
PKNK
Sequence length 114
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 9823979
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27550821, 31511525
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31511525 Stimulate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28903393, 9823979
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 31511525
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 31511525 Stimulate
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 20578947
★☆☆☆☆
Found in Text Mining only