POLR2M (RNA polymerase II subunit M)

Gene

• Entrez ID: 81488
• Gene name: RNA polymerase II subunit M
• Gene symbol: POLR2M
• Synonyms (NCBI Gene): GCOM1, GRINL1A, Gdown, Gdown1
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants.

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043380	hsa-miR-331-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0000993	Function	RNA polymerase II complex binding	IDA	26789250
GO:0003711	Function	Transcription elongation factor activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA
GO:0005665	Component	RNA polymerase II, core complex	IBA
GO:0005665	Component	RNA polymerase II, core complex	IPI	30190596
GO:0006368	Process	Transcription elongation by RNA polymerase II	IEA
GO:0031674	Component	I band	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0051685	Process	Maintenance of ER location	IBA
GO:0051685	Process	Maintenance of ER location	IEA
GO:0097550	Component	Transcription preinitiation complex	IDA	22231121

Other IDs

• MIM: 606485
• HGNC: 14862
• e!Ensembl: ENSG00000255529

Protein

• UniProt ID: P0CAP2
• Protein name: DNA-directed RNA polymerase II subunit GRINL1A (DNA-directed RNA polymerase II subunit M) (Glutamate receptor-like protein 1A)
• Protein function: [Isoform 1]: Appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcr
• PDB: 6DRD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15328	GCOM2	27 → 241	Putative GRINL1B complex locus protein 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in adult an fetal brain. Detected in heart, kidney, skeletal muscle, small intestine, lung, prostate and testis. {ECO:0000269|PubMed:15233991}.
• Sequence:

  MCSLPRGFEPQAPEDLAQRSLVELREMLKRQERLLRNEKFICKLPDKGKKIFDSFAKLKA
  AIAECEEVRRKSELFNPVSLDCKLRQKAIAEVDVGTDKAQNSDPILDTSSLVPGCSSVDN
  IKSSQTSQNQGLGRPTLEGDEETSEVEYTVNKGPASSNRDRVPPSSEASEHHPRHRVSSQ
  AEDTSSSFDNLFIDRLQRITIADQGEQQSEENASTKNLTGLSSGTEKKPHYMEVLEMRAK
  NPVPQLRKFKTNVLPFRQNDSSSHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMP
  TQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSYNPEGESSGRYREVRDED
  DDWSSDEF

• Sequence length: 368
• UniProt ID: Q6EEV4
• Protein name: DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5 (DNA-directed RNA polymerase II subunit M, isoforms 4/5)
• Sequence:

  MATPARAPESPPSADPALVAGPAEEAECPPPRQPQPAQNVLAAPRLRAPSSRGLGAAEFG
  GAAGNVEAPGETFAQRVSWGPAESPPGSFSSSSLGAPLPSRTLFPSLEGDFDSVTFASVL
  RASGRRACCGRAVPLPGQKIHLQIARQR

• Sequence length: 148

Pathways

KEGG:

RNA polymerase
Nucleotide excision repair

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29768670		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	29768670		★☆☆☆☆ Found in Text Mining only