POLR2F - RNA polymerase II, I and III subunit F Gene

Also Known as RPB6; POLRF; RPC15; RPABC2; RPB14.4; HRBP14.4; RPABC14.4

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 5435

About POLR2F

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,953,663-38,041,915 (from NCBI)

This gene has 14 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in brain (RPKM 8.9), kidney (RPKM 5.0) and 25 other tissues.

Summary

This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two Other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

POLR2F Products (5)

mRNA Protein Name
NM_001301129.2 NP_001288058.1 DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 2
NM_001301130.2 NP_001288059.1 DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 3
NM_001301131.2 NP_001288060.1 DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 4
NM_001363825.1 NP_001350754.1 DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 5
NM_021974.5 NP_068809.1 DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence 参考文献 由来
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
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
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

POLR2F Protein Structure

RNA_pol_Rpb6

RNA_pol_Rpb6: RNA polymerase Rpb6 (50 - 106)

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

DNA-directed RNA polymerases I, II, and III subunit RPABC2

  • DNA-directed RNA polymerase II subunit F

関連疾患

Diseases Alias
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

  • Pcwh Syndrome

  • PCWH

  • Neurologic Waardenburg-Shah Syndrome

  • Waardenburg-Shah Syndrome, Neurologic Variant

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

  • Ws4 Plus

  • Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

  • Waardenburg-Shah Syndrome Neurologic Variant
Waardenburg Syndrome, Type 4c

  • Waardenburg Syndrome Type 4c

  • WS4C

  • Waardenburg Syndrome Type Ivc

  • Waardenburg Syndrome With Hirschsprung Disease Type 4c

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4c

  • Waardenburg Syndrome, Type Ivc

  • Waardenburg Syndrome 4c

  • Hirschsprung Disease With Pigmentary Anomaly

  • Shah-Waardenburg Syndrome

  • Waardenburg-Shah Syndrome

  • Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2e

  • Waardenburg Syndrome Type 2

  • Waardenburg Syndrome Type 2e

  • WS2E

  • Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement

  • Waardenburg Syndrome, Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation

  • Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type Iie

  • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation

  • Ws2e, With Or Without Neurologic Involvement

  • Ws2e With Or Without Neurological Involvement

  • Ws 2

  • Ws Type 2

  • Ws2

  • Waardenburg Syndrome Type Ii

  • Waardenburg Syndrome 2e

  • Kallmann Syndrome And Deafness With Or Without Hypopigmentation

  • Ws2e With Or Without Neurologic Involvement

  • Waardenburg Syndrome Type 2e, Without Neurologic Involvement

  • Ws-2
Waardenburg Syndrome, Type 1

  • Waardenburg Syndrome Type 1

  • WS1

  • Waardenburg Syndrome Type I

  • Waardenburg Syndrome With Dystopia Canthorum

  • Waardenburg'S Syndrome Type 1

  • Waardenburg Syndrome 1

  • Waardenburg Syndrome, Type I

  • Waardenburg Syndrome
Waardenburg Syndrome, Type 4a

  • Waardenburg-Shah Syndrome

  • Shah-Waardenburg Syndrome

  • Waardenburg Syndrome Type 4a

  • WS4A

  • Ws4

  • Waardenburg Syndrome Type 4

  • Waardenburg Syndrome Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease Type 4a

  • Hirschsprung Disease With Pigmentary Anomaly

  • Waardenburg-Hirschsprung Syndrome

  • Waardenburg Syndrome, Type Iva

  • Waardenburg Syndrome With Hirschsprung Disease, Type 4a

  • Waardenburg-Hirschsprung Disease

  • Waardenburg Syndrome, Type 4

  • Waardenburg Syndrome 4a
Rare Genetic Deafness

  • Rare Genetic Hearing Loss
Waardenburg Syndrome, Type 2a

  • Waardenburg Syndrome Type 2a

  • WS2A

  • Waardenburg Syndrome, Type Iia

  • Waardenburg Syndrome Without Dystopia Canthorum

  • Ws2

  • Waardenburg Syndrome Type Iia

  • Waardenburg Syndrome 2a
Hirschsprung Disease 1

  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10847 POLR2F Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris POLR2F VGNC VGNC:44797
Bos taurus POLR2F VGNC VGNC:33140
Macaca mulatta POLR2F VGNC VGNC:97120
Mus musculus POLR2F MGD MGI:1349393
Rattus norvegicus POLR2F RGD RGD:708567
Felis catus POLR2F VGNC VGNC:68951
Others POLR2F NCBI