Gene Gene information from NCBI Gene database.
Entrez ID 8731
Gene name RNA guanine-7 methyltransferase
Gene symbol RNMT
Synonyms (NCBI Gene)
CMT1CMT1cMETMetN7-MTaseRG7MT1cm1phCMT1hMet
Chromosome 18
Chromosome location 18p11.21
miRNA miRNA information provided by mirtarbase database.
1162
miRTarBase ID miRNA Experiments Reference
MIRT027113 hsa-miR-103a-3p Sequencing 20371350
MIRT031646 hsa-miR-16-5p Sequencing 20371350
MIRT032372 hsa-let-7b-5p Proteomics 18668040
MIRT051661 hsa-let-7e-5p CLASH 23622248
MIRT043402 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding IMP 9790902
GO:0003723 Function RNA binding TAS 9705270
GO:0004482 Function MRNA 5'-cap (guanine-N7-)-methyltransferase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603514 10075 ENSG00000101654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43148
Protein name mRNA cap guanine-N(7) methyltransferase (EC 2.1.1.56) (RG7MT1) (mRNA (guanine-N(7))-methyltransferase) (mRNA cap methyltransferase) (hCMT1) (hMet) (hcm1p)
Protein function Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:10347220, PubMed:11114884, PubMed:22099306, PubMed:27422871, PubMed:970527
PDB 3BGV , 3EPP , 5E8J , 5E9J , 5E9W , 8Q69 , 8Q8G , 8Q9W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03291 Pox_MCEL 136 475 mRNA capping enzyme Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9705270, ECO:0000269|PubMed:9790902}.
Sequence
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway   mRNA Capping
RNA Pol II CTD phosphorylation and interaction with CE
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Evidence Score
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
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
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 25135958
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 28803425 Associate
★☆☆☆☆
Found in Text Mining only
Aplasia of muscle Aplasia Of Muscle BEFREE 10716658
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30991934
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30991934 Associate
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 10219749, 10502832, 10716658, 11140841, 11231025, 11345007, 11438991, 11489280, 11713717, 11898586, 12030326, 12402337, 12525712, 12901697, 1341967
View all (47 more)
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth disease, Type 1C Charcot-Marie-Tooth Disease BEFREE 23576546
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder) Charcot-Marie-Tooth disease BEFREE 11325886
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth disease, X-linked, 1 Charcot-Marie-Tooth disease BEFREE 10219749, 10716658, 11345007, 7849745
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24966994
★☆☆☆☆
Found in Text Mining only