PRMT9 (protein arginine methyltransferase 9)

Gene

• 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

Gene ontology (GO)

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

Other IDs

• MIM: 616125
• HGNC: 25099
• e!Ensembl: ENSG00000164169

Protein

• UniProt ID: 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

Associated diseases

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)

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29603830	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37715221	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25712083	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39924156	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29603830		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27911265		★☆☆☆☆ Found in Text Mining only