GTF2H2 - general transcription factor IIH subunit 2 Gene

Also Known as p44; BTF2; TFIIH; BTF2P44; BTF2 p44; T-BTF2P44

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2966

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II general transcription initiation factor activity IDA
IDA: Inferred from direct assay
10924514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7664335 GOA
Biological Process GO Annotation Evidence References Source
involved in G protein-coupled receptor internalization IMP
IMP: Inferred from mutant phenotype
15775968 GOA
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
involved in transcription initiation at RNA polymerase II promoter IDA
IDA: Inferred from direct assay
10924514 GOA
Cellular Component GO Annotation Evidence References Source
part of core TFIIH complex portion of holo TFIIH complex IDA
IDA: Inferred from direct assay
27193682 GOA
located in nucleus IDA
IDA: Inferred from direct assay
27193682 GOA
part of transcription factor TFIID complex IDA
IDA: Inferred from direct assay
27193682 GOA
part of transcription factor TFIIH core complex IDA
IDA: Inferred from direct assay
11445587 GOA
part of transcription factor TFIIH holo complex 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

GTF2H2 Protein Structure

Ssl1

Ssl1: Ssl1-like (64 - 255)

C1_4

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

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

general transcription factor IIH subunit 2

  • TFIIH basal transcription factor complex p44 subunit

GTF2H2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05899 GTF2H2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus GTF2H2 MGD MGI:1345669