CMTR2 (cap methyltransferase 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 55783
Gene name Cap methyltransferase 2
Gene symbol CMTR2
Synonyms (NCBI Gene)
AFTFTSJD1HMTr2MTr2
Chromosome 16
Chromosome location 16q22.2
miRNA miRNA information provided by mirtarbase database.
17 Show/Hide all (17)
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
616190 25635 ENSG00000180917
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.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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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.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 38565336
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 34099189
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC — CTD 23685749
★★★★★
★★☆☆☆
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
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (12)
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
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MYBL1 2 shared diseasesAdenoid cystic carcinoma, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Adenoid cystic carcinoma), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Adenoid cystic carcinoma, Polycystic ovary syndrome — evidence mostly CTD. ISYNA1 2 shared diseasesAdenoid cystic carcinoma, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Adenoid cystic carcinoma), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Adenoid cystic carcinoma, Polycystic ovary syndrome — evidence mostly CTD. TOP2A 2 shared diseasesAdenoid cystic carcinoma, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Adenoid cystic carcinoma), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Adenoid cystic carcinoma, Polycystic ovary syndrome — evidence mostly CTD. NFIB 2 shared diseasesAdenoid cystic carcinoma, Polycystic ovary syndrome 1 shared evidence sourceCTD (Adenoid cystic carcinoma) Related via 2 shared diseases including Adenoid cystic carcinoma, Polycystic ovary syndrome — evidence mostly CTD. ARHGAP30 1 shared diseasePolycystic ovary syndrome 2 shared evidence sourcesCTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 1 shared disease including Polycystic ovary syndrome — evidence mostly CTD.
Glioma Linked via 2 of 5 related genesMYBL1, TOP2A Prostate cancer Linked via 2 of 5 related genesMYBL1, NFIB Salivary gland neoplasms Linked via 2 of 5 related genesISYNA1, TOP2A Breast neoplasms Linked via 1 of 5 related genesTOP2A Hepatocellular carcinoma Linked via 1 of 5 related genesTOP2A