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Gene Gene information from NCBI Gene database.
Entrez ID 2959
Gene name General transcription factor IIB
Gene symbol GTF2B
Synonyms (NCBI Gene)
TF2BTFIIB
Chromosome 1
Chromosome location 1p22.2
Summary This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors II
miRNA miRNA information provided by mirtarbase database.
186 Show/Hide all (186)
miRTarBase ID miRNA Experiments Reference
MIRT003079 hsa-miR-122-5p qRT-PCR 18073344
MIRT003079 hsa-miR-122-5p qRT-PCR 18073344
MIRT041771 hsa-miR-484 CLASH 23622248
MIRT540156 hsa-miR-4432 HITS-CLIP 23706177
MIRT541939 hsa-miR-508-5p HITS-CLIP 23706177
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RELA Activation 7706261
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64 Show/Hide all (64)
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IEA
GO:0000793 Component Condensed chromosome IEA
GO:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IBA
GO:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IDA 7675079, 9420329, 10619841, 16230532
GO:0000993 Function RNA polymerase II complex binding IDA 8413225, 8504927
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189963 4648 ENSG00000137947
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00403
Protein name Transcription initiation factor IIB (EC 2.3.1.48) (General transcription factor TFIIB) (S300-II)
Protein function General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA (PubMed:12931194, PubMed:1517211, PubMed:1876
PDB 1C9B , 1DL6 , 1RLY , 1RO4 , 1TFB , 1VOL , 2PHG , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 5WH1 , 6O9L , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVS , 7NVT , 7NVU , 7NVY , 7NVZ , 7NW0 , 7ZWC , 7ZWD , 7ZX7 , 7ZX8 , 7ZXE , 8BVW , 8BYQ , 8BZ1 , 8GXQ , 8GXS , 8S51 , 8S52 , 8S5N , 8WAK , 8WAL , 8WAN , 8WAO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00382 TFIIB 121 → 191 Transcription factor TFIIB repeat Domain
PF00382 TFIIB 215 → 285 Transcription factor TFIIB repeat Domain
PF08271 TF_Zn_Ribbon 13 → 55 TFIIB zinc-binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the inner cell mass forming the embryoblast (PubMed:24441171). Not detected in cells from the outer thin layer trophoblast (at protein level) (PubMed:24441171). {ECO:0000269|PubMed:24441171}.
Sequence
MASTSRLDALPRVTCPNHPDAILVEDYRAGDMICPECGLVVGDRVIDVGSEWRTFSNDKA
TKDPSRVGDSQNPLLSDGDLSTMIGKGTGAASFDEFGNSKYQNRRTMSSSDRAMMNAFKE
ITTMADRINLPRNIVDRTNNLFKQVYEQKSLKGRANDAIASACLYIACRQEGVPRTFKEI
CAVSRISKKEI
GRCFKLILKALETSVDLITTGDFMSRFCSNLCLPKQVQMAATHIARKAV
ELDLVPGRSPISVAAAAIYMASQASAEKRTQKEIGDIAGVADVTI
RQSYRLIYPRAPDLF
PTDFKFDTPVDKLPQL
Sequence length 316
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Basal transcription factors RNA Polymerase II Pre-transcription Events
Spinocerebellar ataxia RNA polymerase II transcribes snRNA genes
Viral carcinogenesis RNA Polymerase II Promoter Escape
  RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  RNA Polymerase II Transcription Initiation
  RNA Polymerase II Transcription Initiation And Promoter Clearance
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog 38965376, 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY — GWAS catalog 39966646
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 22194214
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23055019 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28501746, 31309477
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 23055019
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 22194214
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 24738062, 28501746
★★★★★
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 24738062, 29025258
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis BEFREE 10707958
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 29048667 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only