ANTKMT (adenine nucleotide translocase lysine methyltransferase)

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Gene Gene information from NCBI Gene database.
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Entrez ID 65990
Gene name Adenine nucleotide translocase lysine methyltransferase
Gene symbol ANTKMT
Synonyms (NCBI Gene)
ANT-KMTC16orf24FAM173A
Chromosome 16
Chromosome location 16p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 31213526
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
618566 14152 ENSG00000103254
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQD7
Protein name Adenine nucleotide translocase lysine N-methyltransferase (ANT-KMT) (EC 2.1.1.-)
Protein function Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:3
Family and domains
Sequence 
MEQDDPVEALTELRERRLGALELLQAAAGSGLAAYAVWALLLQPGFRRVPLRLQVPYVGA
SARQVEHVLSLLRGRPGKTVDLGSGDGRIVLAAHRCGLRPAVGYELNPWLVALARLHAWR
AGCAGSVCYRRKDLWKVSLRDCRNVSVFLAPSVLPLLEDKLRTELPAGARVVSGRFPLPT
WQPVTAVGEGLDRVWAYDVPEGGQAGEAASSRIPIQAAPGPSSAPIPGGLISQAS
Sequence length 235
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
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
Nasopharyngeal carcinoma Nasopharyngeal Carcinoma BEFREE 31040200
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for ANTKMT.

No additional diseases found yet through genes similar to ANTKMT.