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FLASH GENE

Symbol

POLR2A

contributors: mct - updated : 26-03-2016

HGNC name	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
HGNC id	9187

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDDIH neurodevelopmental disorder with infantile-onset hypotonia
Location	17p13.1      Physical location : 7.387.697 - 7.417.935
Synonym name	RNA-directed RNA polymerase II subunit RPB1
	DNA-directed RNA polymerase III largest subunit
	polymerase (RNA) II subunit A
Synonym symbol(s)	POL2, POLR2, RPB1, RPO2, POLRA, RPBh1, RPOL2, RpIILS, hsRPB1, hRPB220, RNAP2, MGC75453
EC.number	2.7.7.6/ 2.7.7.48

DNA

TYPE	functioning gene
STRUCTURE	30.24 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000937 29 - 6738 NP_000928 - 1970 - 2019 30541148

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   lowly   intestine small intestine     moderately   mouth tongue     highly Lymphoid/Immune thymus       lowly Reproductive female system breast mammary gland   predominantly Respiratory lung       lowly   respiratory tract larynx     moderately Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	phosphorylated C-terminal domain
	zinc-finger
	C terminal repeat sequence consisting of 52 repeats of the consensus motif (YSPTSPS) referred to as the C terminal domain CTD and is critical for the regulation of gene expression states

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to rattus Polr2a
	ortholog to murine Polr2a
	ortholog to drosophila RpII215
	ortholog to C. elegans ama-1

Homologene

FAMILY

RNA polymerase beta' chain family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	DNA-dependent RNA polymerase catalyzing the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates
	may play a role in cyclobutane pyrimidine dimers damage recognition
	POLR2A pausing is a key regulatory step in transcription: pauses at GC-rich regions that are marked by a sequence motif, and pausing is highly regulated in normal human cells

CELLULAR PROCESS	nucleotide, repair
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	RNA polymerase II composed of 12 different subunits
	DNA-directed RNA polymerase II, core complex

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	FNBP3
	NSAP1
	SAFB
	MYB cooperates with CASP8AP2 in foci associated with active POLR2A, leading to enhancement of MYB-dependent gene activation
	histone N-terminal tails interfere with nucleosome traversal by POLR2A
	direct interaction of PHF8 with the C-terminal domain of POLR2A
	Mediator complex interacts extensively with POLR2A, suggesting that activator-induced structural shifts within Mediator trigger activation of stalled Pol II
	DBIRD complex acts at the interface between mRNP particles and POLR2A, integrating transcript elongation with the regulation of alternative splicing
	AGO1 and AGO2 facilitate spliceosome recruitment and modulate POLR2A elongation rate, thereby affecting alternative splicing
	role for SNAPC1 as a general transcriptional coactivator that functions through elongating POLR2A
	dynamic interaction of SNAPC1 with elongating POLR2A during activation of the FOS gene by EGF
	interaction of CDK12 with CCNK is required for the phosphorylation of the C-terminal domain of RNA polymerase II
	BRD4 regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells
	through cooperation with POLR2A and KDM6A, SUPT6H orchestrates removal of H3K27me3, thus controlling developmental gene expression and cell differentiation
	nuclear DPP4 interacted with a genomic flanking region of the gene for POLR2A, a subunit of RNA polymerase II
	RECQL5 interacts with POLR2A and inhibits transcription of protein-encoding genes
	nuclear EIF2C1 regulates the expression of EIF2C1-bound genes that are implicated in oncogenic pathways including cell cycle progression, growth, and survival
	PPP1R10 regulates POLR2A-mediated gene expression and is necessary for developmental growth
	DGCR8 physically interacted with ERCC6 and POLR2A

cell & other

REGULATION

activated by

phosphorylation

Other

regulated by positive transcription elongation factor b (CDK9) in association with bromodomain-containing protein 4 (BRD4)

ASSOCIATED DISORDERS

corresponding disease(s)

NDDIH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS