NTMT2 (N-terminal Xaa-Pro-Lys N-methyltransferase 2)

Gene

• Entrez ID: 149281
• Gene name: N-terminal Xaa-Pro-Lys N-methyltransferase 2
• Gene symbol: NTMT2
• Synonyms (NCBI Gene): C1orf184, HOMT1B, METTL11B, NTM1B
• Chromosome: 1
• Chromosome location: 1q24.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	24090352
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006480	Process	N-terminal protein amino acid methylation	IDA	24090352
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0071885	Function	N-terminal protein N-methyltransferase activity	IBA
GO:0071885	Function	N-terminal protein N-methyltransferase activity	IDA	24090352
GO:0071885	Function	N-terminal protein N-methyltransferase activity	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q5VVY1
• Protein name: N-terminal Xaa-Pro-Lys N-methyltransferase 2 (EC 2.1.1.299) (Alpha N-terminal protein methyltransferase 1B) (Methyltransferase-like protein 11B) (X-Pro-Lys N-terminal protein methyltransferase 1B) (NTM1B)
• Protein function: Alpha N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Se
• PDB: 5UBB, 6DUB, 6KDR, 6KDS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05891	Methyltransf_PK	64 → 278	AdoMet dependent proline di-methyltransferase	Family

• Sequence:

  MAHRGAHFAFRSRWQKTDDELCRHSMSFILHKAIRNDFFQSYLYLLEKIPLVKLYALTSQ
  VINGEMQFYARAKLFYQEVPATEEGMMGNFIELSSPDIQASQKFLRKFVGGPGRAGTDCA
  LDCGSGIGRVSKHVLLPVFNSVELVDMMESFLLEAQNYLQVKGDKVESYHCYSLQEFTPP
  FRRYDVIWIQWVSGHLTDKDLLAFLSRCRDGLKENGIIILKDNVAREGCILDLSDSSVTR
  DMDILRSLIRKSGLVVLGQEKQDGFPEQCIPVWMFALHSDRHS

• Sequence length: 283

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
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial fibrillation	Pubtator	29050564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	35044082	Associate	★☆☆☆☆ Found in Text Mining only