ETFBKMT (electron transfer flavoprotein subunit beta lysine methyltransferase)

Gene

• Entrez ID: 254013
• Gene name: Electron transfer flavoprotein subunit beta lysine methyltransferase
• Gene symbol: ETFBKMT
• Synonyms (NCBI Gene): C12orf72, ETFB-KMT, METTL20
• Chromosome: 12
• Chromosome location: 12p11.21

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IDA	23349634
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	25416781
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IBA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IMP	25023281, 25416781
GO:0016279	Function	Protein-lysine N-methyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0031072	Function	Heat shock protein binding	IPI	23349634
GO:0032259	Process	Methylation	IEA
GO:0032991	Component	Protein-containing complex	IDA	23349634
GO:1904736	Process	Negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA
GO:1904736	Process	Negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA
GO:1904736	Process	Negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	25416781

Other IDs

• MIM: 615256
• HGNC: 28739
• e!Ensembl: ENSG00000139160

Protein

• UniProt ID: Q8IXQ9
• Protein name: Electron transfer flavoprotein beta subunit lysine methyltransferase (EC 2.1.1.-) (ETFB lysine methyltransferase) (ETFB-KMT) (Protein N-lysine methyltransferase METTL20)
• Protein function: Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06325	PrmA	101 → 192		Family

• Sequence:

  MALSLGWKAHRNHCGLLLQALRSSGLLLFPCGQCPWRGAGSFLDPEIKAFLEENTEVTSS
  GSLTPEIQLRLLTPRCKFWWERADLWPHSDPYWAIYWPGGQALSRYLLDNPDVVRGKSVL
  DLGSGCGATAIAAKMSGASRILANDIDPIAGMAITLNCELNRLNPFPILIQNILNLEQDK
  WDLVVLGDMFYDEDLADSLHQWLKKCFWTYRTRVLIGDPGRPQFSGHSIQHHLHKVVEYS
  LLESTRQENSGLTTSTVWGFQP

• Sequence length: 262

Pathways

Reactome:

Protein methylation

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Developmental Disabilities	Developmental disability	Pubtator	37563198	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	31937794	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	37563198	Associate	★☆☆☆☆ Found in Text Mining only