CMTR2 (cap methyltransferase 2)

Gene

• Entrez ID: 55783
• Gene name: Cap methyltransferase 2
• Gene symbol: CMTR2
• Synonyms (NCBI Gene): AFT, FTSJD1, HMTr2, MTr2
• Chromosome: 16
• Chromosome location: 16q22.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440610	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440609	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440610	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727640	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727639	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727638	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727637	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440609	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT742486	hsa-miR-5193	HITS-CLIP	23824327
MIRT742487	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT742488	hsa-miR-4490	HITS-CLIP	23824327
MIRT742489	hsa-miR-3659	HITS-CLIP	23824327
MIRT742490	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT742491	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT742492	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT742493	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT742494	hsa-miR-1238-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004483	Function	Methyltransferase cap1 activity	IBA
GO:0004483	Function	Methyltransferase cap1 activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21310715
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21310715
GO:0005737	Component	Cytoplasm	IEA
GO:0006370	Process	7-methylguanosine mRNA capping	IBA
GO:0006370	Process	7-methylguanosine mRNA capping	IDA	21310715
GO:0006370	Process	7-methylguanosine mRNA capping	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0120550	Function	Methyltransferase cap2 activity	IDA	21310715

Other IDs

• MIM: 616190
• HGNC: 25635
• e!Ensembl: ENSG00000180917

Protein

• UniProt ID: Q8IYT2
• Protein name: Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 (EC 2.1.1.296) (Cap methyltransferase 2) (Cap2 2'O-ribose methyltransferase 2) (HMTr2) (MTr2) (FtsJ methyltransferase domain-containing protein 1) (Protein adrift homolog)
• Protein function: S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01728	FtsJ	110 → 320	FtsJ-like methyltransferase	Family

• Sequence:

  MSKCRKTPVQQLASPASFSPDILADIFELFAKNFSYGKPLNNEWQLPDPSEIFTCDHTEL
  NAFLDLKNSLNEVKNLLSDKKLDEWHEHTAFTNKAGKIISHVRKSVNAELCTQAWCKFHE
  ILCSFPLIPQEAFQNGKLNSLHLCEAPGAFIASLNHYLKSHRFPCHWSWVANTLNPYHEA
  NDDLMMIMDDRLIANTLHWWYFGPDNTGDIMTLKFLTGLQNFISSMATVHLVTADGSFDC
  QGNPGEQEALVSSLHYCEVVTALTTLGNGGSFVLKMFTMFEHCSINLMYLLNCCFDQVHV
  FKPATSKAGNSEVYVVCLHYKGREAIHPLLSKMTLNFGTEMKRKALFPHHVIPDSFLKRH
  EECCVFFHKYQLETISENIRLFECMGKAEQEKLNNLRDCAIQYFMQKFQLKHLSRNNWLV
  KKSSIGCSTNTKWFGQRNKYFKTYNERKMLEALSWKDKVAKGYFNSWAEEHGVYHPGQSS
  ILEGTASNLECHLWHILEGKKLPKVKCSPFCNGEILKTLNEAIEKSLGGAFNLDSKFRPK
  QQYSCSCHVFSEELIFSELCSLTECLQDEQVVVPSNQIKCLLVGFSTLRNIKMHIPLEVR
  LLESAELTTFSCSLLHDGDPTYQRLFLDCLLHSLRELHTGDVMILPVLSCFTRFMAGLIF
  VLHSCFRFITFVCPTSSDPLRTCAVLLCVGYQDLPNPVFRYLQSVNELLSTLLNSDSPQQ
  VLQFVPMEVLLKGALLDFLWDLNAAIAKRHLHFIIQREREEIINSLQLQN

• Sequence length: 770

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27158780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29777402, 30304330		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30207852		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31185926		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31185926		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASCAT_DG	30945673, 30945699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29777402, 30304330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30207852		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only