Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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
rs1014959895	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained, intron variant, non coding transcript variant
rs1251713297	C>A	Pathogenic	Non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1390386790	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1567690011	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1567721991	->GCTCTCCG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant

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
MIRT535019	hsa-miR-3943	PAR-CLIP	20371350
MIRT535018	hsa-miR-6849-3p	PAR-CLIP	20371350
MIRT570549	hsa-miR-361-3p	PAR-CLIP	20371350
MIRT570548	hsa-miR-3127-3p	PAR-CLIP	20371350
MIRT570547	hsa-miR-6756-3p	PAR-CLIP	20371350
MIRT535017	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT535016	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT535015	hsa-miR-24-1-5p	PAR-CLIP	20371350
MIRT535014	hsa-miR-24-2-5p	PAR-CLIP	20371350
MIRT535013	hsa-miR-6778-3p	PAR-CLIP	20371350
MIRT535012	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT535011	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT535010	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT535009	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT535008	hsa-miR-5001-3p	PAR-CLIP	20371350
MIRT535007	hsa-miR-6836-3p	PAR-CLIP	20371350
MIRT535021	hsa-miR-6856-3p	PAR-CLIP	22012620
MIRT535020	hsa-miR-4323	PAR-CLIP	22012620
MIRT535019	hsa-miR-3943	PAR-CLIP	22012620
MIRT535018	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT535017	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT535016	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT535015	hsa-miR-24-1-5p	PAR-CLIP	22012620
MIRT535014	hsa-miR-24-2-5p	PAR-CLIP	22012620
MIRT535013	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535012	hsa-miR-6791-3p	PAR-CLIP	22012620
MIRT535011	hsa-miR-6829-3p	PAR-CLIP	22012620
MIRT535010	hsa-miR-6512-3p	PAR-CLIP	22012620
MIRT535009	hsa-miR-6720-5p	PAR-CLIP	22012620
MIRT535008	hsa-miR-5001-3p	PAR-CLIP	22012620
MIRT535007	hsa-miR-6836-3p	PAR-CLIP	22012620
MIRT449884	hsa-miR-656-3p	PAR-CLIP	22100165
MIRT449883	hsa-miR-7856-5p	PAR-CLIP	22100165
MIRT535021	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT535020	hsa-miR-4323	PAR-CLIP	20371350
MIRT535019	hsa-miR-3943	PAR-CLIP	20371350
MIRT535018	hsa-miR-6849-3p	PAR-CLIP	20371350
MIRT570549	hsa-miR-361-3p	PAR-CLIP	20371350
MIRT570548	hsa-miR-3127-3p	PAR-CLIP	20371350
MIRT570547	hsa-miR-6756-3p	PAR-CLIP	20371350
MIRT535017	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT535016	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT535015	hsa-miR-24-1-5p	PAR-CLIP	20371350
MIRT535014	hsa-miR-24-2-5p	PAR-CLIP	20371350
MIRT535013	hsa-miR-6778-3p	PAR-CLIP	20371350
MIRT535012	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT535011	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT535010	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT535009	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT535008	hsa-miR-5001-3p	PAR-CLIP	20371350
MIRT535007	hsa-miR-6836-3p	PAR-CLIP	20371350
MIRT535021	hsa-miR-6856-3p	PAR-CLIP	22012620
MIRT535020	hsa-miR-4323	PAR-CLIP	22012620
MIRT535019	hsa-miR-3943	PAR-CLIP	22012620
MIRT535018	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT535017	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT535016	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT535015	hsa-miR-24-1-5p	PAR-CLIP	22012620
MIRT535014	hsa-miR-24-2-5p	PAR-CLIP	22012620
MIRT535013	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535012	hsa-miR-6791-3p	PAR-CLIP	22012620
MIRT535011	hsa-miR-6829-3p	PAR-CLIP	22012620
MIRT535010	hsa-miR-6512-3p	PAR-CLIP	22012620
MIRT535009	hsa-miR-6720-5p	PAR-CLIP	22012620
MIRT535008	hsa-miR-5001-3p	PAR-CLIP	22012620
MIRT535007	hsa-miR-6836-3p	PAR-CLIP	22012620
MIRT449884	hsa-miR-656-3p	PAR-CLIP	22100165
MIRT449883	hsa-miR-7856-5p	PAR-CLIP	22100165

Show/Hide all(27)

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
GO:0005634	Component	Nucleus	IDA	15494416
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA	15494416
GO:0006349	Process	Regulation of gene expression by genetic imprinting	ISS
GO:0008469	Function	Histone-arginine N-methyltransferase activity	IDA	15494416
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IDA	15044439
GO:0016277	Function	[myelin basic protein]-arginine N-methyltransferase activity	IDA	15494416
GO:0016571	Process	Histone methylation	IDA	15494416
GO:0018216	Process	Peptidyl-arginine methylation	IDA	15044439
GO:0018216	Process	Peptidyl-arginine methylation	IMP	17709427
GO:0019918	Process	Peptidyl-arginine methylation, to symmetrical-dimethyl arginine	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0034969	Process	Histone arginine methylation	ISS
GO:0035241	Function	Protein-arginine omega-N monomethyltransferase activity	IBA	21873635
GO:0035241	Function	Protein-arginine omega-N monomethyltransferase activity	IDA	15044439, 19110445
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IDA	15494416, 19110445
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IMP	17709427
GO:0042393	Function	Histone binding	IC	15494416
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	17709427
GO:0043046	Process	DNA methylation involved in gamete generation	ISS
GO:0043393	Process	Regulation of protein binding	IC	15044439
GO:0043985	Process	Histone H4-R3 methylation	IEA
GO:0044020	Function	Histone methyltransferase activity (H4-R3 specific)	ISS

MIM	HGNC	e!Ensembl
610087	25557	ENSG00000132600

Protein

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

	Reactome
			RMTs methylate histone arginines

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	rs137854530, rs1601164378, rs1601163749, rs137854531, rs137854532, rs11554273, rs121913495, rs587776829, rs137854534, rs2145916749, rs137854537, rs137854538, rs2146271310, rs2146178462, rs2145916486 View all (16 more)
Short stature, brachydactyly, intellectual developmental disability, and seizures	SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES, Short stature-brachydactyly-obesity-global developmental delay syndrome	rs886039897, rs149170494, rs762515973, rs201824659, rs1567690011, rs1567721991, rs1014959895, rs372375423	26437029, 27718516
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Acanthosis nigricans	Acanthosis Nigricans	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Short Stature, Brachydactyly, Intellectual Developmental Disability, And Seizures	short stature-brachydactyly-obesity-global developmental delay syndrome	GenCC
Schizophrenia	Schizophrenia	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Neoplasms	Associate	28874563, 33782401
Thoracic Outlet Syndrome	Inhibit	37196697
Thyroid Cancer Papillary	Associate	38092752

PRMT7 (protein arginine methyltransferase 7)