POLR2H - RNA polymerase II, I and III subunit H Gene

Also Known as RPB8; RPB17; RPABC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5437

About POLR2H

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,361,710-184,368,591 (from NCBI)

This gene has 13 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in duodenum (RPKM 14.6), small intestine (RPKM 13.6) and 25 other tissues.

Summary

The three eukaryotic RNA polymerases are complex multisubunit Enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the Other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

POLR2H Products (18)

mRNA Protein Name
NM_001278698.2 NP_001265627.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 1
NM_001278699.3 NP_001265628.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001278700.2 NP_001265629.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001278714.2 NP_001265643.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 4
NM_001278715.2 NP_001265644.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 5
NM_001346879.2 NP_001333808.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 6
NM_001389576.1 NP_001376505.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389578.1 NP_001376507.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389579.1 NP_001376508.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389581.1 NP_001376510.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389582.1 NP_001376511.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389583.1 NP_001376512.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389584.1 NP_001376513.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389585.1 NP_001376514.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389586.1 NP_001376515.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389587.1 NP_001376516.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389588.1 NP_001376517.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_006232.5 NP_006223.2 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
Molecular Function GO Annotation Evidence References Source
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
16632472 GOA
Biological Process GO Annotation Evidence References Source
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase I complex IDA
IDA: Inferred from direct assay
34671025 GOA
part of RNA polymerase II, core complex IDA
IDA: Inferred from direct assay
9852112 GOA
part of RNA polymerase III complex IDA
IDA: Inferred from direct assay
33335104 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9852112 GOA
part of protein-DNA complex IDA
IDA: Inferred from direct assay
16632472 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLR2H Protein Structure

RNA_pol_Rpb8

RNA_pol_Rpb8: RNA polymerase Rpb8 (7 - 147)

  • 0
  • 100
  • 150 a.a.
Protein Preferred Names Protein Names

DNA-directed RNA polymerases I, II, and III subunit RPABC3

  • DNA-directed RNA polymerase II subunit H

Related Diseases

Diseases Alias
Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta POLR2H VGNC VGNC:76216
Felis catus POLR2H VGNC VGNC:68953
Bos taurus POLR2H VGNC VGNC:33142
Rattus norvegicus POLR2H RGD RGD:1561203
Mus musculus POLR2H MGD MGI:2384309
Others POLR2H NCBI