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

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

中文名称:RNA 聚合酶 II、I 和 III 亚基 F

种属: Homo sapiens

同用名: RPB6; POLRF; RPC15; RPABC2; RPB14.4; HRBP14.4; RPABC14.4

基因 ID: 5435 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 RNA 聚合酶 II 的第六大亚基,该聚合酶负责在真核生物中合成信使 RNA。在酵母中,该聚合酶亚基与至少两个其他亚基结合,形成一种结构,可稳定 DNA 模板上的转录聚合酶。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 7 月]

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 基因产物(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
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9852112 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA polymerase I complex IDA
IDA: 通过直接分析推断
34671025 GOA
part of RNA polymerase II, core complex IDA
IDA: 通过直接分析推断
9852112 GOA
part of RNA polymerase III complex IDA
IDA: 通过直接分析推断
33335104 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9852112 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

POLR2F 蛋白结构

RNA_pol_Rpb6

RNA_pol_Rpb6: RNA polymerase Rpb6 (50 - 106)

  • 0
  • 100
  • 127 a.a.
蛋白主名 其他名称

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

DNA-directed RNA polymerase II subunit F

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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