Gene Gene information from NCBI Gene database.
Entrez ID 54496
Gene name Protein arginine methyltransferase 7
Gene symbol PRMT7
Synonyms (NCBI Gene)
SBIDDS
Chromosome 16
Chromosome location 16q22.1
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610087 25557 ENSG00000132600
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
KHSTEVTVGPEGDMPCRANILVTELFDTE
LIGEGALPSYEHAHRHLVEENCEAVPHRATV
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.
  Reactome
    RMTs methylate histone arginines
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
78
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Likely pathogenic; Pathogenic rs201824659, rs2082897416 RCV001264712
RCV001264713
PRMT7-related disorder Likely pathogenic; Pathogenic rs201824659 RCV004754369
Short stature-brachydactyly-obesity-global developmental delay syndrome Pathogenic; Likely pathogenic rs2151732301, rs1597361540, rs2151827144, rs2151436426, rs2151701931, rs2151558358, rs1313637057, rs1339009950, rs2545118734, rs886039897, rs149170494, rs762515973, rs201824659, rs2086255627, rs768950720
View all (11 more)
RCV001420150
RCV001420151
RCV001544514
RCV001784880
RCV001806400
RCV001813607
RCV002260535
RCV002260536
RCV002510670
RCV000256479
RCV000256464
RCV000256485
RCV000256436
RCV003324206
RCV003990839
RCV003995191
RCV004515767
RCV004555312
RCV004594846
RCV000681524
RCV000681525
RCV000763383
RCV006249661
RCV000709800
RCV001199929
RCV001199406
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epileptic encephalopathy Conflicting classifications of pathogenicity rs371698853 RCV001800167
Associations from Text MiningDisease 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