GTF2H2 (general transcription factor IIH subunit 2)

2003-12-01 Affiliation

Identity

HGNC

GTF2H2

LOCATION

5q13.2

LOCUSID

2966

ALIAS

BTF2,BTF2P44,T-BTF2P44,TFIIH,p44

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2966
MIM: 601748
HGNC: 4656
Ensembl: ENSG00000145736

Variants:

dbSNP: 2966
ClinVar: 2966
TCGA: ENSG00000145736
COSMIC: GTF2H2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145736	ENST00000274400	Q13888
ENSG00000145736	ENST00000330280	Q13888
ENSG00000145736	ENST00000517900	D6RGC9
ENSG00000145736	ENST00000518898	R4GMS9
ENSG00000145736	ENST00000519783	D6RAW1
ENSG00000145736	ENST00000521602	R4GMV2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Basal transcription factors	KEGG	ko03022
Nucleotide excision repair	KEGG	ko03420
Basal transcription factors	KEGG	hsa03022
Nucleotide excision repair	KEGG	hsa03420
Holo-TFIIH complex	KEGG	hsa_M00290
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
Holo-TFIIH complex	KEGG	M00290
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Transcription of the HIV genome	REACTOME	R-HSA-167172
HIV Transcription Initiation	REACTOME	R-HSA-167161
RNA Polymerase II HIV Promoter Escape	REACTOME	R-HSA-167162
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	REACTOME	R-HSA-167160
HIV Transcription Elongation	REACTOME	R-HSA-167169
Formation of the HIV-1 Early Elongation Complex	REACTOME	R-HSA-167158
Tat-mediated elongation of the HIV-1 transcript	REACTOME	R-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 Tat	REACTOME	R-HSA-167200
Formation of HIV elongation complex in the absence of HIV Tat	REACTOME	R-HSA-167152
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	REACTOME	R-HSA-504046
RNA Polymerase I Transcription	REACTOME	R-HSA-73864
RNA Polymerase I Promoter Clearance	REACTOME	R-HSA-73854
RNA Polymerase I Transcription Initiation	REACTOME	R-HSA-73762
RNA Polymerase I Promoter Escape	REACTOME	R-HSA-73772
RNA Polymerase I Chain Elongation	REACTOME	R-HSA-73777
RNA Polymerase I Transcription Termination	REACTOME	R-HSA-73863
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	REACTOME	R-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter Clearance	REACTOME	R-HSA-76042
RNA Polymerase II Transcription Initiation	REACTOME	R-HSA-75953
RNA Polymerase II Promoter Escape	REACTOME	R-HSA-73776
RNA Pol II CTD phosphorylation and interaction with CE	REACTOME	R-HSA-77075
RNA Polymerase II Transcription Elongation	REACTOME	R-HSA-75955
Formation of the Early Elongation Complex	REACTOME	R-HSA-113418
Formation of RNA Pol II elongation complex	REACTOME	R-HSA-112382
mRNA Capping	REACTOME	R-HSA-72086
Epigenetic regulation of gene expression	REACTOME	R-HSA-212165
Negative epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250941
NoRC negatively regulates rRNA expression	REACTOME	R-HSA-427413
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)	REACTOME	R-HSA-5696399
Formation of Incision Complex in GG-NER	REACTOME	R-HSA-5696395
Dual Incision in GG-NER	REACTOME	R-HSA-5696400
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
Formation of TC-NER Pre-Incision Complex	REACTOME	R-HSA-6781823
Dual incision in TC-NER	REACTOME	R-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NER	REACTOME	R-HSA-6782210
TP53 Regulates Transcription of DNA Repair Genes	REACTOME	R-HSA-6796648

References

Pubmed ID	Year	Title	Citations
14980221	2004	TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus.	147
17332483	2007	Impairment of alveolar macrophage transcription in idiopathic pulmonary fibrosis.	17
19154529	2009	A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.	16
12080057	2002	p52 Mediates XPB function within the transcription/repair factor TFIIH.	15
15790571	2005	Solution structure of the C-terminal domain of TFIIH P44 subunit reveals a novel type of C4C4 ring domain involved in protein-protein interactions.	11
21821450	2012	Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.	10
25801217	2015	Advanced oxidation protein products decrease the expression of calcium transport channels in small intestinal epithelium via the p44/42 MAPK signaling pathway.	6
21558443	2011	MicroRNA-27a regulates basal transcription by targeting the p44 subunit of general transcription factor IIH.	5
24944016	2014	P44/WDR77 restricts the sensitivity of proliferating cells to TGFβ signaling.	4
28977422	2017	The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.	4

Citation

Dessen P

GTF2H2 (general transcription factor IIH subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40779/gtf2h2