Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 4509
Gene name Mitochondrially encoded ATP synthase 8
Gene symbol ATP8
Synonyms (NCBI Gene)
ATPase8MTATP8
Chromosome MT
Chromosome location -
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32516135
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IC 12110673
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane NAS 26297831
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
516070 7415 HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P03928
Protein name ATP synthase F(0) complex subunit 8 (A6L) (F-ATPase subunit 8)
Protein function Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
PDB 8H9F , 8H9J , 8H9M , 8H9Q , 8H9S , 8H9T , 8H9U , 8H9V , 8KHF , 8KI3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00895 ATP-synt_8 1 → 55 ATP synthase protein 8 Family
Sequence
Sequence length 68
Interactions View interactions
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 6775077
Gene name -
Gene symbol ATP8
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 8923211
Gene name -
Gene symbol ATP8
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
BICUSPID AORTIC VALVE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (41)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute intermittent porphyria Intermittent Porphyria BEFREE 25010670
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 20929553
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 25010670
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 25110199, 25896597
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25110199 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY Cardiomyopathy, apical hypertrophic and neuropathy CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC Cardiomyopathy UNIPROT_DG 19188198
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC Cardiomyopathy CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations