Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
404672
Gene name Gene Name - the full gene name approved by the HGNC.
General transcription factor IIH subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GTF2H5
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTD3, TTDA, bA120J8.2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular le
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434364 C>G,T Pathogenic Missense variant, stop gained, coding sequence variant
rs121434365 T>A,C Pathogenic Missense variant, coding sequence variant
rs765378190 A>G Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT657522 hsa-miR-3653-5p HITS-CLIP 19536157
MIRT657521 hsa-miR-1976 HITS-CLIP 19536157
MIRT712624 hsa-miR-6759-3p HITS-CLIP 19536157
MIRT497070 hsa-miR-4695-3p HITS-CLIP 19536157
MIRT712623 hsa-miR-4445-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000439 Component Transcription factor TFIIH core complex IBA
GO:0000439 Component Transcription factor TFIIH core complex IEA
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0005515 Function Protein binding IPI 16669699, 19172752, 26496610, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608780 21157 ENSG00000272047
Protein
UniProt ID Q6ZYL4
Protein name General transcription factor IIH subunit 5 (General transcription factor IIH polypeptide 5) (TFB5 ortholog) (TFIIH basal transcription factor complex TTD-A subunit) (TFIIH subunit p8)
Protein function Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA
PDB 1YDL , 2JNJ , 5IVW , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5OF4 , 6NMI , 6O9L , 6O9M , 6RO4 , 7AD8 , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVV , 7NVW , 7NVX , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8EBS , 8EBT , 8EBU , 8EBV , 8EBW , 8EBX , 8EBY , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06331 Tfb5 1 69 Transcription factor TFIIH complex subunit Tfb5 Family
Sequence
Sequence length 71
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Basal transcription factors
Nucleotide excision repair
  Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Trichothiodystrophy trichothiodystrophy 3, photosensitive rs121434364, rs121434365, rs765378190 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 36008952
Neoplasms Associate 24007313
Ovarian Neoplasms Associate 26463438
Pulmonary Atelectasis Associate 34089082
Squamous Cell Carcinoma of Head and Neck Associate 24007313
Trichothiodystrophy Syndromes Associate 18470933, 18579452, 21730288, 25290684, 25620205, 30580289
Xeroderma Pigmentosum Associate 25620205
Xeroderma Pigmentosum B Cockayne Syndrome Associate 25620205