Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6875
Gene name Gene Name - the full gene name approved by the HGNC.
TATA-box binding protein associated factor 4b
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAF4B
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF13, TAF2C2, TAFII105
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPGF13
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777427 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004175 hsa-miR-197-3p Microarray 16822819
MIRT029373 hsa-miR-26b-5p Microarray 19088304
MIRT726400 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT726399 hsa-miR-30b-5p HITS-CLIP 22473208
MIRT726398 hsa-miR-30c-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IBA 21873635
GO:0003677 Function DNA binding IDA 15601843
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601689 11538 ENSG00000141384
Protein
UniProt ID Q92750
Protein name Transcription initiation factor TFIID subunit 4B (Transcription initiation factor TFIID 105 kDa subunit) (TAF(II)105) (TAFII-105) (TAFII105)
Protein function Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07531 TAFH 258 349 NHR1 homology to TAF Family
PF05236 TAF4 616 859 Transcription initiation factor TFIID component TAF4 family Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in ovarian granulosa cells (at protein level). Highly expressed in B-cells. {ECO:0000269|PubMed:16088961, ECO:0000269|PubMed:8858156}.
Sequence
MPAGLTEPAGAAPPAAVSASGTVTMAPAGALPVRVESTPVALGAVTKAPVSVCVEPTASQ
PLRSPVGTLVTKVAPVSAPPKVSSGPRLPAPQIVAVKAPNTTTIQFPANLQLPPGTVLIK
SNSGPLMLVSPQQTVTRAETTSNITSRPAVPANPQTVKICTVPNSSSQLIKKVAVTPVKK
LAQIGTTVVTTVPKPSSVQSVAVPTSVVTVTPGKPLNTVTTLKPSSLGASSTPSNEPNLK
AENSAAVQINLSPTMLENVKKCKNFLAMLIKLACSGSQSPEMGQNVKKLVEQLLDAKIEA
EEFTRKLYVELKSSPQPHLVPFLKKSVVALRQLLPNSQSFIQQCVQQTS
SDMVIATCTTT
VTTSPVVTTTVSSSQSEKSIIVSGATAPRTVSVQTLNPLAGPVGAKAGVVTLHSVGPTAA
TGGTTAGTGLLQTSKPLVTSVANTVTTVSLQPEKPVVSGTAVTLSLPAVTFGETSGAAIC
LPSVKPVVSSAGTTSDKPVIGTPVQIKLAQPGPVLSQPAGIPQAVQVKQLVVQQPSGGNE
KQVTTISHSSTLTIQKCGQKTMPVNTIIPTSQFPPASILKQITLPGNKILSLQASPTQKN
RIKENVTSCFRDEDDINDVTSMAGVNLNEENACILATNSELVGTLIQSCKDEPFLFIGAL
QKRILDIGKKHDITELNSDAVNLISQATQERLRGLLEKLTAIAQHRMTTYKASENYILCS
DTRSQLKFLEKLDQLEKQRKDLEEREMLLKAAKSRSNKEDPEQLRLKQKAKELQQLELAQ
IQHRDANLTALAAIGPRKKRPLESGIEGLKDNLLASGTSSLTATKQLHRPRITRICLRDL
IFCMEQEREMKYSRALYLA
LLK
Sequence length 862
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Basal transcription factors
Huntington disease
  RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Male infertility Male infertility with azoospermia or oligozoospermia due to single gene mutation rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia Obstructive azoospermia rs121909016, rs121908805, rs144055758, rs397508761
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 31377750, 32502024
Neoplasms Associate 20353996
Sleep Disorders Circadian Rhythm Associate 20353996