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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	90826
Gene name	Protein arginine methyltransferase 9
Gene symbol	PRMT9
Synonyms (NCBI Gene)	PRMT10
Chromosome	4
Chromosome location	4q31.23
Summary	This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-aden

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25737013, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IDA	25737013, 25979344
GO:0005737	Component	Cytoplasm	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006397	Process	MRNA processing	IMP	25737013
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008276	Function	Protein methyltransferase activity	IEA
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IBA
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IDA	25979344
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IEA
GO:0016274	Function	Protein-arginine N-methyltransferase activity	IMP	25737013
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IEA
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IMP	25737013
GO:0042054	Function	Histone methyltransferase activity	IBA

MIM	HGNC	e!Ensembl
616125	25099	ENSG00000164169

Q6P2P2

Protein name

Protein arginine N-methyltransferase 9 (Protein arginine N-methyltransferase 10) (EC 2.1.1.320)

Protein function

Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative

PDB

6PDM , 7RBQ , 7T39 , 9AY9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06325	PrmA	167 → 257		Family

Sequence

MSNSRPRSRRDAGGGAGAAGRDELVSRSLQSAEHCLGVQDFGTAYAHYLLVLSLAPELKH
DVKETFQYTLFRWAEELDALSRIQDLLGCYEQALELFPDDEVICNSMGEHLFRMGFRDEA
AGYFHKAVKLNPDFSDAKENFYRVANWLVERWHFIMLNDTKRNTIYNAAIQKAVCLGSKS
VLDIGAGTGILSMFAKKAGAHSVYACELSKTMYELACDVVAANKMEAGIKLLHTKSLDIE
IPKHIPERVSLVVTETVDAGLFGEGIVESLIHAWEHLLLQPKTKGESANCEKYGKVIPAS
AVIFGMAVECAEIRRHHRVGIKDIAGIHLPTNVKFQSPAYSSVDTEETIEPYTTEKMSRV
PGGYLALTECFEIMTVDFNNLQELKSLATKKPDKIGIPVIKEGILDAIMVWFVLQLDDEH
SLSTSPSEETCWEQAVYPVQDLADYWIKPGDHVMMEVSCQDCYLRIQSISVLGLECEMDV
AKSFTQNKDLLSLGNEAELCSALANLQTSKPDAVEQTCILESTEIALLNNIPYHEGFKMA
MSKVLSSLTPEKLYQTMDTHCQNEMSSGTGQSNTVQNILEPFYVLDVSEGFSVLPVIAGT
LGQVKPYSSVEKDQHRIALDLISEANHFPKETLEFWLRHVEDESAMLQRPKSDKLWSIII
LDVIEPSGLIQQEIMEKAAISRCLLQSGGKIFPQYVLMFGLLVESQTLLEENAVQGTERT
LGLNIAPFINQFQVPIRVFLDLSSLPCIPLSKPVELLRLDLMTPYLNTSNREVKVYVCKS
GRLTAIPFWYHMYLDEEIRLDTSSEASHWKQAAVVLDNPIQVEMGEELVLSIQHHKSNVS
ITVKQ

Sequence length

845

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental abnormality	Pathogenic	rs759375404, rs769164317, rs2530677875, rs780261399, rs552399598, rs767264426, rs142189908, rs2530696820, rs1394475208, rs1733174455, rs2530575861, rs1392285676, rs2530696627, rs756105948, rs747281440, rs748127912, rs2530679409 View all (2 more)	RCV003126217 RCV003126218 RCV003126219 RCV003126220 RCV003126222 RCV003126223 RCV003126225 RCV003126227 RCV003126229 RCV003126230 RCV003126231 RCV003126233 RCV003126234 RCV003126235 RCV003126236 RCV003126237 RCV003126238	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36820582	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	29603830	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	37715221	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	25712083	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	25712083	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Associate	39924156	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis congenital generalized X linked	Associate	21636067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	29603830	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRMT9 (protein arginine methyltransferase 9)