PRMT7 (protein arginine methyltransferase 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54496
Gene name Gene Name - the full gene name approved by the HGNC.
Protein arginine methyltransferase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRMT7
Synonyms (NCBI Gene) Gene synonyms aliases
SBIDDS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs149170494 G>C Pathogenic Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs201824659 G>T Pathogenic Splice acceptor variant
rs751670999 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs762515973 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs886039897 G>A Pathogenic Splice acceptor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(73)
miRTarBase ID miRNA Experiments Reference
MIRT047476 hsa-miR-10b-5p CLASH 23622248
MIRT046164 hsa-miR-30b-5p CLASH 23622248
MIRT042041 hsa-miR-484 CLASH 23622248
MIRT535021 hsa-miR-6856-3p PAR-CLIP 20371350
MIRT535020 hsa-miR-4323 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly IMP 17709427
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 28587924, 32296183, 33961781
GO:0005634 Component Nucleus IDA 15494416
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610087 25557 ENSG00000132600
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NVM4
Protein name Protein arginine N-methyltransferase 7 (EC 2.1.1.321) (Histone-arginine N-methyltransferase PRMT7) ([Myelin basic protein]-arginine N-methyltransferase PRMT7)
Protein function Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of argin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06325 PrmA 54 → 149 Family
Sequence 
MKIFCSRANPTTGSVEWLEEDEHYDYHQEIARSSYADMLHDKDRNVKYYQGIRAAVSRVK
DRGQKALVLDIGTGTGLLSMMAVTAGADFCYAIEVFKPMADAAVKIVEKNGFSDKIKVIN
KHSTEVTVGPEGDMPCRANILVTELFDTELIGEGALPSYEHAHRHLVEENCEAVPHRATV
YAQLVESGRMWSWNKLFPIHVQTSLGEQVIVPPVDVESCPGAPSVCDIQLNQVSPADFTV
LSDVLPMFSIDFSKQVSSSAACHSRRFEPLTSGRAQVVLSWWDIEMDPEGKIKCTMAPFW
AHSDPEEMQWRDHWMQCVYFLPQEEPVVQGSALYLVAHHDDYCVWYSLQRTSPEKNERVR
QMRPVCDCQAHLLWNRPRFGEINDQDRTDRYVQALRTVLKPDSVCLCVSDGSLLSVLAHH
LGVEQVFTVESSAASHKLLRKIFKANHLEDKINIIEKRPELLTNEDLQGRKVSLLLGEPF
FTTSLLPWHNLYFWYVRTAVDQHLGPGAMVMPQAASLHAVVVEFRDLWRIRSPCGDCEGF
DVHIMDDMIKRALDFRESREAEPHPLWEYPCRSLSEPWQILTFDFQQPVPLQPLCAEGTV
ELRRPGQSHAAVLWMEYHLTPECTLSTGLLEPADPEGGCCWNPHCKQAVYFFSPAPDPRA
LLGGPRTVSYAVEFHPDTGDIIMEFRHADTPD
Sequence length 692
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RMTs methylate histone arginines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Short Stature, Brachydactyly, Intellectual Developmental Disability, And Seizures short stature-brachydactyly-obesity-global developmental delay syndrome rs762515973, rs201824659, rs1567690011, rs1567721991, rs1014959895, rs372375423, rs886039897, rs149170494 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brachydactyly Associate 36348013
Brain Concussion Inhibit 37196697
Brain Injuries Traumatic Associate 37196697
Breast Neoplasms Associate 30699057, 33782401
Carcinoma Hepatocellular Associate 31732298, 35264579
Drug Related Side Effects and Adverse Reactions Associate 19089452
Dwarfism Pituitary Associate 36348013
Genetic Diseases Inborn Associate 36348013
Growth Disorders Associate 33270637, 36348013
Mitochondrial Diseases Associate 37196697