2. Gene
  3. GTF2H2 - general transcription factor IIH subunit 2 Gene

GTF2H2 - general transcription factor IIH subunit 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：一般转录因子 IIH 亚基 2

种属: Homo sapiens

同用名: p44; BTF2; TFIIH; BTF2P44; BTF2 p44; T-BTF2P44

基因 ID: 2966 | 基因类型: protein coding

关于 GTF2H2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:71,035,347-71,067,676 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 205 orthologues and 1 paralogue. Ubiquitous expression in appendix (RPKM 16.9), testis (RPKM 15.9) and 25 other tissues.

功能概要

该基因是染色体 5q13 上 500 kb 反向重复的一部分。该重复区域包含至少四个基因和重复元素，使其易于重排和缺失。序列的重复性和复杂性也导致难以确定该基因组区域的组织。该基因位于复制的端粒拷贝内。在脊髓性肌萎缩症 (SMA) 患者中，该基因的缺失有时会伴随相邻 SMN1 基因的缺失，但尚不清楚该基因的缺失是否会导致 SMA 表型。该基因编码 RNA 聚合酶 II 转录起始因子 IIH 的 44 kDa 亚基，该因子参与基础转录和核苷酸切除修复。已经描述了该基因的转录变体，但尚未确定其全长性质。文献中描述了该基因在着丝粒重复拷贝中的第二个拷贝。据报道，它有两个或四个碱基对不同；然而，目前尚无该基因着丝粒拷贝的序列数据。[RefSeq 提供，2008 年 7 月]

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

GTF2H2 基因产物(21)

mRNA Protein Name
NM_001364567.2 NP_001351496.1 general transcription factor IIH subunit 2 isoform a
NM_001364568.3 NP_001351497.1 general transcription factor IIH subunit 2 isoform b
NM_001364569.2 NP_001351498.1 general transcription factor IIH subunit 2 isoform b
NM_001364570.2 NP_001351499.1 general transcription factor IIH subunit 2 isoform b
NM_001364571.2 NP_001351500.1 general transcription factor IIH subunit 2 isoform b
NM_001364572.3 NP_001351501.1 general transcription factor IIH subunit 2 isoform c
NM_001364573.3 NP_001351502.1 general transcription factor IIH subunit 2 isoform d
NM_001395387.1 NP_001382316.1 general transcription factor IIH subunit 2 isoform a
NM_001395388.1 NP_001382317.1 general transcription factor IIH subunit 2 isoform a
NM_001395389.1 NP_001382318.1 general transcription factor IIH subunit 2 isoform e
NM_001395390.1 NP_001382319.1 general transcription factor IIH subunit 2 isoform f
NM_001395391.1 NP_001382320.1 general transcription factor IIH subunit 2 isoform a
NM_001395392.1 NP_001382321.1 general transcription factor IIH subunit 2 isoform a
NM_001395393.1 NP_001382322.1 general transcription factor IIH subunit 2 isoform g
NM_001395394.1 NP_001382323.1 general transcription factor IIH subunit 2 isoform h
NM_001395395.1 NP_001382324.1 general transcription factor IIH subunit 2 isoform e
NM_001395396.1 NP_001382325.1 general transcription factor IIH subunit 2 isoform e
NM_001395397.1 NP_001382326.1 general transcription factor IIH subunit 2 isoform b
NM_001395398.1 NP_001382327.1 general transcription factor IIH subunit 2 isoform b
NM_001395399.1 NP_001382328.1 general transcription factor IIH subunit 2 isoform b
NM_001515.4 NP_001506.1 general transcription factor IIH subunit 2 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase II general transcription initiation factor activity IDA
IDA: 通过直接分析推断
10924514 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7664335 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor internalization IMP
IMP: 通过突变表型推断
15775968 GOA
involved in transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9852112 GOA
involved in transcription initiation at RNA polymerase II promoter IDA
IDA: 通过直接分析推断
10924514 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of core TFIIH complex portion of holo TFIIH complex IDA
IDA: 通过直接分析推断
27193682 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27193682 GOA
part of transcription factor TFIID complex IDA
IDA: 通过直接分析推断
27193682 GOA
part of transcription factor TFIIH core complex IDA
IDA: 通过直接分析推断
11445587 GOA
part of transcription factor TFIIH holo complex 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

GTF2H2 蛋白结构

Ssl1

Ssl1: Ssl1-like (64 - 255)

C1_4

C1_4: TFIIH C1-like domain (344 - 386)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
蛋白主名 其他名称

general transcription factor IIH subunit 2

TFIIH basal transcription factor complex p44 subunit

GTF2H2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GTF2H2 Q13888 ERCC2 Homo sapiens P18074
Anti Bait CoIP
19934020
Intra GTF2H2 Q13888 GTF2H1 Homo sapiens P32780
Y2H
21988832
Intra GTF2H2 Q13888 GTF2H1 Homo sapiens P32780
Anti Bait CoIP
19934020
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Phlebotomus Fever

Pappataci Fever

Sandfly Fever

Sandfly-Borne Phleboviral Disease

Sandfly-Borne Arboviral Fever

Sandfly-Borne Bunyavirus Fever

Three Day Fever

Chitral Fever

Italy Summer Grippe

Italy Summer Grippe Influenza
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type Iii

SMA3

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma Iii

Kugelberg-Welander Syndrome

Kws

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

Spinal Muscular Atrophy-3

Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy, Type Iii, Modifier Of

Type Iii Spinal Muscular Atrophy

Sma 3

Proximal Spinal Muscular Atrophy Type 3

Sma Type 3

Sma Type Iii

Sma-Iii

Spinal Muscular Atrophy 3

Spinal Muscular Atrophy Mild Childhood And Adolescent Form

Spinal Muscular Atrophy Type Iii

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity
Trichothiodystrophy 3, Photosensitive

TTD3

Trichothiodystrophy, Complementation Group A

Ttda

Photosensitive Trichothiodystrophy 3

Trichothiodystrophy Complementation Group A
Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B

Xeroderma Pigmentosum, Group B

XPB

Xpbc

Xp Group B

Xp, Group B

Xeroderma Pigmentosum Complementation Group B

XP-B

Xeroderma Pigmentosum Group B With Cockayne Syndrome

Xeroderma Pigmentosum Ii

Xp2

Xp-B/Cs
Rift Valley Fever

Rfv - [Rift Valley Fever]
Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome
Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05899 GTF2H2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GTF2H2 MGD MGI:1345669
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