GTF2H4 (general transcription factor IIH subunit 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 2968
Gene name General transcription factor IIH subunit 4
Gene symbol GTF2H4
Synonyms (NCBI Gene)
P52TFB2TFIIH
Chromosome 6
Chromosome location 6p21.33
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT042111 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
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GO ID Ontology Definition Evidence Reference
GO:0000438 Component Core TFIIH complex portion of holo TFIIH complex IDA 27193682
GO:0000439 Component Transcription factor TFIIH core complex IBA
GO:0000439 Component Transcription factor TFIIH core complex IEA
GO:0001671 Function ATPase activator activity IEA
GO:0003690 Function Double-stranded DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
601760 4658 ENSG00000213780
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92759
Protein name General transcription factor IIH subunit 4 (Basic transcription factor 2 52 kDa subunit) (BTF2 p52) (General transcription factor IIH polypeptide 4) (TFIIH basal transcription factor complex p52 subunit)
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 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
PF03849 Tfb2 21 → 374 Transcription factor Tfb2 Family
PF18307 Tfb2_C 389 → 456 Transcription factor Tfb2 (p52) C-terminal domain Domain
Sequence 
MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAVFRELPSLAKNWVMRML
FLEQPLPQAAVALWVKKEFSKAQEESTGLLSGLRIWHTQLLPGGLQGLILNPIFRQNLRI
ALLGGGKAWSDDTSQLGPDKHARDVPSLDKYAEERWEVVLHFMVGSPSAAVSQDLAQLLS
QAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQYLQTAQSRGMDLVEILSFLFQL
SFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKRKSRRYYPTRLAINLSSGVSGAGGT
VHQPGFIVVETNYRLYAYTESELQIALIALFSEMLYRFPNMVVAQVTRESVQQAIASGIT
AQQIIHFLRTRAHPVMLKQTPVLPPTITDQIRLWELERDRLRFTEGVLYNQFLSQVDFEL
LLAHARELGVLVFENSAKRLMVVTPAGHSDVKRFWKRQKHSS
Sequence length 462
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Basal transcription factors Formation of RNA Pol II elongation complex
Nucleotide excision repair Formation of the Early Elongation Complex
Viral carcinogenesis 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
MULTIPLE SCLEROSIS — GWAS catalog 37377963
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA — GWAS catalog 32889700
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS — GWAS catalog 37377963
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS — GWAS catalog 26651848
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 28991256
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (74)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19502791
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26988706
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 30642396
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 22524621
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 22524621
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30604907
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28190248, 31026346, 31202267
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 15365563
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma in situ of uterine cervix Cervical Intraepithelial Neoplasia BEFREE 20084279
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30604907
★★★★★
★☆☆☆☆
Found in Text Mining only
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APOM 2 shared diseasesNon-small cell lung carcinoma, Sarcoidosis 2 shared evidence sourcesGWAS catalog (Non-small cell lung carcinoma), GWAS catalog (Sarcoidosis) Related via 2 shared diseases including Non-small cell lung carcinoma, Sarcoidosis — evidence mostly GWAS catalog. GTF2H1 23 shared pathwaysBasal transcription factors, Nucleotide excision repair, Viral carcinogenesis, Formation of Incision Complex in GG-NER, Dual Incision in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER +11 more Related via 23 shared pathways including Basal transcription factors, Nucleotide excision repair. GTF2H2 23 shared pathwaysBasal transcription factors, Nucleotide excision repair, Viral carcinogenesis, Formation of Incision Complex in GG-NER, Dual Incision in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER +11 more Related via 23 shared pathways including Basal transcription factors, Nucleotide excision repair. GTF2H3 23 shared pathwaysBasal transcription factors, Nucleotide excision repair, Viral carcinogenesis, Formation of Incision Complex in GG-NER, Dual Incision in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, Formation of TC-NER Pre-Incision Complex, Transcription-Coupled Nucleotide Excision Repair (TC-NER), Dual incision in TC-NER +11 more Related via 23 shared pathways including Basal transcription factors, Nucleotide excision repair. ERCC2 22 shared pathwaysBasal transcription factors, Nucleotide excision repair, Formation of Incision Complex in GG-NER, Dual Incision in GG-NER, Formation of RNA Pol II elongation complex , RNA Polymerase II Pre-transcription Events, TP53 Regulates Transcription of DNA Repair Genes, RNA Polymerase II Transcription Elongation, 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 +10 more Related via 22 shared pathways including Basal transcription factors, Nucleotide excision repair.
Alzheimer disease Linked via 3 of 5 related genesGTF2H1, GTF2H3, ERCC2 Ischemic heart disease Linked via 2 of 5 related genesAPOM, ERCC2 Coronary artery disease Linked via 2 of 5 related genesAPOM, ERCC2 Lung cancer Linked via 2 of 5 related genesAPOM, ERCC2 Myocardial ischemia Linked via 2 of 5 related genesAPOM, ERCC2