Gene Gene information from NCBI Gene database.
Entrez ID 404672
Gene name General transcription factor IIH subunit 5
Gene symbol GTF2H5
Synonyms (NCBI Gene)
C6orf175TFB5TFIIHTGF2H5TTDTTD-ATTD3TTDAbA120J8.2
Chromosome 6
Chromosome location 6q25.3
Summary 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.
3
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.
704
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608780 21157 ENSG00000272047
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Trichothiodystrophy 3, photosensitive Likely pathogenic; Pathogenic rs121434364, rs121434365, rs765378190, rs1777038679, rs1777036380, rs1785841426 RCV000002184
RCV000002185
RCV000714570
RCV001251629
RCV001251630
RCV001251631
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GTF2H5-related disorder Likely benign rs376497189 RCV003974215
Associations from Text MiningDisease 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