Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2972
Gene name Gene Name - the full gene name approved by the HGNC.
BRF1 general transcription factor IIIB subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRF1
Synonyms (NCBI Gene) Gene synonyms aliases
BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CFDS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The g
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs142328073 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic downstream transcript variant, 5 prime UTR variant
rs370270828 G>A Pathogenic Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs373957300 G>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs606231416 G>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs606231450 G>C,T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049633 hsa-miR-92a-3p CLASH 23622248
MIRT037125 hsa-miR-877-3p CLASH 23622248
MIRT824577 hsa-miR-3150b-3p CLIP-seq
MIRT824578 hsa-miR-4502 CLIP-seq
MIRT824579 hsa-miR-4663 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000126 Component Transcription factor TFIIIB complex IBA 21873635
GO:0000126 Component Transcription factor TFIIIB complex NAS 8943358
GO:0000995 Function RNA polymerase III general transcription initiation factor activity IBA 21873635
GO:0001006 Function RNA polymerase III type 3 promoter sequence-specific DNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 18377933
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604902 11551 ENSG00000185024
Protein
UniProt ID Q92994
Protein name Transcription factor IIIB 90 kDa subunit (TFIIIB90) (hTFIIIB90) (B-related factor 1) (BRF-1) (hBRF) (TAF3B2) (TATA box-binding protein-associated factor, RNA polymerase III, subunit 2)
Protein function General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08271 TF_Zn_Ribbon 4 46 TFIIB zinc-binding Domain
PF00382 TFIIB 93 163 Transcription factor TFIIB repeat Domain
PF00382 TFIIB 187 260 Transcription factor TFIIB repeat Domain
PF07741 BRF1 450 548 Brf1-like TBP-binding domain Domain
Sequence
MTGRVCRGCGGTDIELDAARGDAVCTACGSVLEDNIIVSEVQFVESSGGGSSAVGQFVSL
DGAGKTPTLGGGFHVNLGKESRAQTLQNGRRHIHHLGNQLQLNQHCLDTAFNFFKMAVSR
HLTRGRKMAHVIAACLYLVCRTEGTPHMLLDLSDLLQVNVYVL
GKTFLLLARELCINAPA
IDPCLYIPRFAHLLEFGEKNHEVSMTALRLLQRMKRDWMHTGRRPSGLCGAALLVAARMH
DFRRTVKEVISVVKVCESTL
RKRLTEFEDTPTSQLTIDEFMKIDLEEECDPPSYTAGQRK
LRMKQLEQVLSKKLEEVEGEISSYQDAIEIELENSRPKAKGGLASLAKDGSTEDTASSLC
GEEDTEDEELEAAASHLNKDLYRELLGGAPGSSEAAGSPEWGGRPPALGSLLDPLPTAAS
LGISDSIRECISSQSSDPKDASGDGELDLSGIDDLEIDRYILNESEARVKAELWMRENAE
YLREQREKEARIAKEKELGIYKEHKPKKSCKRREPIQASTAREAIEKMLEQKKISSKINY
SVLRGLSS
AGGGSPHREDAQPEHSASARKLSRRRTPASRSGADPVTSVGKRLRPLVSTQP
AKKVATGEALLPSSPTLGAEPARPQAVLVESGPVSYHADEEADEEEPDEEDGEPCVSALQ
MMGSNDYGCDGDEDDGY
Sequence length 677
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cerebellar-facial-dental syndrome Cerebellar-facial-dental syndrome rs606231450, rs606231416, rs370270828
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
25561519
Unknown
Disease term Disease name Evidence References Source
Adenoma colorectal adenoma GenCC
Huntington Disease Huntington Disease GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 21990379, 32198086, 32418914, 36140725
Breast Neoplasms Stimulate 28972307
Carcinogenesis Associate 31740786
Carcinoma Hepatocellular Associate 37021545
Colorectal Neoplasms Associate 33925358
Lung Neoplasms Stimulate 33995823
Neoplasms Associate 18700021, 21990379, 27697617, 31740786, 33925358, 33995823
Neoplasms Stimulate 31740786
Neoplasms Inhibit 36140725
Nervous System Malformations Associate 27748960