• Gene id: 6875

Gene Summary

• Gene Symbol: TAF4B   Gene   UCSC   Ensembl
• Aliases: SPGF13, TAF2C2, TAFII105
• Gene name: TATA-box binding protein associated factor 4b
• Alternate names: transcription initiation factor TFIID subunit 4B, TAF(II)105, TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa, TATA box binding protein (TBP)-associated factor 4B, TATA box binding protein (TBP)-associated factor, RNA pol,
• Gene location: 18q11.2 (26226444: 26391684)     Exons: 18     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 601689

SNPs

rs587777427

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293530C>A
NC_000018.10   g.26293530C>T
NC_000018.9   g.23873494C>A
NC_000018.9   g.23873494C>T
NG_034162.1   g.71648C>A
NG_034162.1   g.71648C>T
NM_005640.3   c.1831C>A
NM_005640.3   c.1831C>T
NM_005640.2   c.1831C>A
NM_005640.2   c.1831C>T
NM_005640.  

rs1677016

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293499T>A
NC_000018.10   g.26293499T>C
NC_000018.10   g.26293499T>G
NC_000018.9   g.23873463T>A
NC_000018.9   g.23873463T>C
NC_000018.9   g.23873463T>G
NG_034162.1   g.71617T>A
NG_034162.1   g.71617T>C
NG_034162.1   g.71617T>G
NM_005640.3   c.1800T>A
  

Protein Summary

• Protein general information: Q92750  
  • Name: Transcription initiation factor TFIID subunit 4B (Transcription initiation factor TFIID 105 kDa subunit) (TAF(II)105) (TAFII 105) (TAFII105)
  • Length: 862  
  • Mass: 91,091
• Sequence:

  MPAGLTEPAGAAPPAAVSASGTVTMAPAGALPVRVESTPVALGAVTKAPVSVCVEPTASQPLRSPVGTLVTKVAP
  VSAPPKVSSGPRLPAPQIVAVKAPNTTTIQFPANLQLPPGTVLIKSNSGPLMLVSPQQTVTRAETTSNITSRPAV
  PANPQTVKICTVPNSSSQLIKKVAVTPVKKLAQIGTTVVTTVPKPSSVQSVAVPTSVVTVTPGKPLNTVTTLKPS
  SLGASSTPSNEPNLKAENSAAVQINLSPTMLENVKKCKNFLAMLIKLACSGSQSPEMGQNVKKLVEQLLDAKIEA
  EEFTRKLYVELKSSPQPHLVPFLKKSVVALRQLLPNSQSFIQQCVQQTSSDMVIATCTTTVTTSPVVTTTVSSSQ
  SEKSIIVSGATAPRTVSVQTLNPLAGPVGAKAGVVTLHSVGPTAATGGTTAGTGLLQTSKPLVTSVANTVTTVSL
  QPEKPVVSGTAVTLSLPAVTFGETSGAAICLPSVKPVVSSAGTTSDKPVIGTPVQIKLAQPGPVLSQPAGIPQAV
  QVKQLVVQQPSGGNEKQVTTISHSSTLTIQKCGQKTMPVNTIIPTSQFPPASILKQITLPGNKILSLQASPTQKN
  RIKENVTSCFRDEDDINDVTSMAGVNLNEENACILATNSELVGTLIQSCKDEPFLFIGALQKRILDIGKKHDITE
  LNSDAVNLISQATQERLRGLLEKLTAIAQHRMTTYKASENYILCSDTRSQLKFLEKLDQLEKQRKDLEEREMLLK
  AAKSRSNKEDPEQLRLKQKAKELQQLELAQIQHRDANLTALAAIGPRKKRPLESGIEGLKDNLLASGTSSLTATK
  QLHRPRITRICLRDLIFCMEQEREMKYSRALYLALLK

• Structural information:
  • Protein Domains: TAFH. (256-353)
    Histone-fold. (653-702)
  • Interpro: IPR009072  IPR007900  IPR037249  IPR003894  
  • Prosite: PS51119
  • CDD: cd08045
  • STRING: ENSP00000269142
• Other Databases: GeneCards:  TAF4B  Malacards:  TAF4B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Premature ovarian failure (POF)	GAD: 19508998
Maturation arrest	MIK: 24431330
Oligozoospermia	MIK: 24431330
Spermatogenesis defects	OMIM: 601689
Azoospermia	MIK: 24431330
Azoospermia	MIK: 24431330
Oligozoospermia	MIK: 24431330
Maturation arrest	MIK: 24431330
Hypospermatogenesis	MIK: 28361989
Sperm number defects	MIK: 29713536
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24431330	Azoospermia, Oligozoospermia, maturation arrest	TAF4B (p.R611X), ZMYND15 (p.K507Sfs*3 )		7 (Family1: 3 azoospermic brothers, 1 oligozoospermic brother; Family2: 3 azoospermic broters)	Male infertility
29713536	Sperm number defects	c.1831C?>?T (p.R611X)			Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray