Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55814
Gene name Gene Name - the full gene name approved by the HGNC.
BDP1 general transcription factor IIIB subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BDP1
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB112, HSA238520, TAF3B1, TFC5, TFIIIB'', TFIIIB150, TFIIIB90, TFNR
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199721728 T>G Pathogenic Intron variant, 3 prime UTR variant, stop lost, terminator codon variant
rs1187285510 G>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023450 hsa-miR-30b-5p Sequencing 20371350
MIRT045090 hsa-miR-186-5p CLASH 23622248
MIRT721910 hsa-miR-2681-3p HITS-CLIP 19536157
MIRT721911 hsa-miR-150-5p HITS-CLIP 19536157
MIRT721909 hsa-miR-4764-3p 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:0000126 Component Transcription factor TFIIIB complex IBA
GO:0001156 Function TFIIIC-class transcription factor complex binding IBA
GO:0005515 Function Protein binding IPI 16542149
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607012 13652 ENSG00000145734
Protein
UniProt ID A6H8Y1
Protein name Transcription factor TFIIIB component B'' homolog (Transcription factor IIIB 150) (TFIIIB150) (Transcription factor-like nuclear regulator)
Protein function General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the in
PDB 5N9G , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15963 Myb_DNA-bind_7 293 398 Myb DNA-binding like Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is highly expressed in cerebellum. {ECO:0000269|PubMed:11161782}.
Sequence
MFRRARLSVKPNVRPGVGARGSTASNPQRGRESPRPPDPATDSASKPAEPTDVPTVDFGG
AEPQEKAPRSSTEKTGGDNDVEESSRSSSTVSQRRKRISSTSSLVKSSVSVPSESHPLST
INQEAPQPTATSTKEKQPCSDRYRIYKAQKLREMLKEELRKEKKQWKNKYAINESQRPPD
RSKMTMRDFIYYLPDNNPMTSSLEQEKKTEKPSTPVQTREQEGKSTPNAEDNEMEEETDD
GPLLVPRVKVAEDGSIILDEESLTVEVLRTKGPCVVEENDPIFERGSTTTYSSFRKNYYS
KPWSNKETDMFFLAISMVGTDFSMIGQLFPHRARIEIKNKFKREEKTNGWRIDKAFQEKR
PFDFDFFAHLLQKVLAEEEKRKQKSVKNHSLKEKKSTK
PRKNVKVKKVACEGVNNDPDES
MSSRISDTERSQKDAQTVEEESLTLSREDAEQVALEVDLNQKKRRRKKQDGANELGVNNL
LENATVQAGPSKGEKHKNKCQAIRPELKEGECSKEQMLSCTQNIDGIVGFASTEKVEKRT
DPILSLSNQQDATSVATESSESSTSDLPSFEVGIRALCEVNNAEGSCIEERNVDLKNNSL
EIDQTENVKPMLRGRFQRPKPNLSRAGKKSVLSQGKTESESKNSHSKTSVEKNHVEKDKM
NTLDILRMETTERENPEAETVSVLGEKNCLQEGSQLKALRPVQVRGRLQKPKPNAGKAAE
RKEILISQEEIGANVEKNENESCADRDTPQHMEDQSRKDFEEEDVILQPEKNDSFQNVQP
DEPKVLNECLSVQENNKANKLNQVPILRTRFQKPKPNIGRGTGRREISSKEEVLEKILVS
GEMAAALRETVRLDTSPKEMVPAEINTKEMQSDLKETGRRAISPREKILDVIDDTIEMET
GLKAMGREICLREKTPEVIDATEEIDKDLEEAGRREISPQKNGPEEVKPLGEVETDLKAT
GNESSPREKTPEVTDATEEIDKNLEETGRRKISPRENGPEEVKPVDEMETDLNATGRESS
PREKTPEVIDATEEIDLEETEREVSPQENGLEEVKPLGEMETDLKATGRDSFPRGKTPEV
IDAIEEIEIDLEETEREISPQENGLEEVKPLGEMQTDLKATGREISPREKTPEVIDATEE
IDKDLEETGRREISPEENGPEEVKPVDEMETDLKTTGREGSSREKTREVIDAAEVIETDL
EETEREISPQENGPEEVKPVGKMETDLKEIREEISQREKVLAEFSAIREKEIDLKETGKR
DIPIMEKVSGKMAVVEEMEADLKETGKENFRERGSEEICVTEEKVAELKQTGKTDISPRE
NELEETSTSRQTDTHLMQSGSNDFSAVPSLDIQNISSEVLSMMHTPVEEKRNSEKEVSSH
FSHFKISSQTHESDKTEVQGIQSPDVPEQFSDINLSKSLPQEQKPLEIKPAPFVRSRFKR
PKPNLARAALKRETTESEKYIYEKKSETKKMETIVMQENNEQTDTLPSQHDEASLMISRE
KDTLGHRNEEAVILPCTQTERNLSPSNSCEPKEESQSAPVQKNDSVVSVGTNNVNTFQQE
MKESVIQTARQVRGRLQRPRPNIRKTGQRQIVDKGEAKGIIKEGRTILPKDETEKKVLTV
SNSQIETEIEVPSSAVPEHRMYENQSQVVLVENLHVNKTNETIRHENKPYVPSSAQMTRR
KFQKAKPNLGRAHSKKEEPVLEKVTTDQSKEGKPEDHLLQKGASNTQLLLKEKAELLTSL
EVSARKDCVGSKESALAKIDAELEEVGPSRRVGEETVGDNSPSSVVEEQYLNKLTSCPQP
LNETSYSKIALDGKTTISSTSEYERNRGERRSHKKFKPNVTRGRGSKRVRGKTSKKEPRA
SKAMLVTLRASQEEDDDADDFESDYEEESYHLAPEEVNKAPVFVPVGLRSPEPVSAQIEE
TMEELEITVNVPDVGCIAVVEHELPNTDVTTEEMKQEENLSVPFEMTTSEHIQDEPGTND
GSTEAAITLLTMGDLVLQSEISSEQGDVGVCIIPHVHSKDKSHIPSSLDNVNHKIVHECQ
ELSSPVITTSPASFEENKIVLEEQSSREEISLMEKVKENATPTRNTISKVTSNLRIRSRL
AKPKPNLEKTLGTNRLDDYQEVSSLCVTKGAEMETQRETEKNASKATELENKNLGPVTTA
ENKDQSKLACVHGIKGTSISSEVNLTERNENQEESSQEVHMLSVAPVASSETGPCTLGLD
RGLGENSVEEPQIKDSKGDSVLTLPVPEYTPTSIPEVQQENIINPQDLTVNLVANVPQDG
EDEQAFILTLVEIPANAVEEFTDATAQFMPNPLLPAPILVKSVNTEERGDMSICLPATSV
GQDAMGLSISGRDNSKKPPDNLDLVSRKRFQCRLDKNDHIPPAKKRSLTLRDDCQEYTTE
VHSKELTNVFEETGESHKGQDIFLTSGSTLTTPEPQRQQVEAAFQSRGSRSPDACMDKNV
PQLPQDEMIVSDKEERTDAAPKSQQMDSRTSSSKASLSRPGRRPLGFLSLICSKNSLESD
EPMQVHSKKRLKPLIPGLRKKLKRSNPFNESQEKNRESSDLLPSPSVITTQSENISSSAT
QVSCDQPLLKEGYKSAQKRAPQGEATTVSEYFFNDIFIEVDETE
Sequence length 2624
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
RNA Polymerase III Transcription Initiation From Type 3 Promoter
<
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
deafness Deafness rs1187285510 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hearing Loss Hearing loss, autosomal recessive 112 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36305848
Carcinogenesis Associate 36305848
Lymphoma Non Hodgkin Associate 36305848
Neoplasms Associate 17505538, 18700021, 36305848
Neuroblastoma Associate 36305848
Ovarian Neoplasms Associate 36305848