Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	6875
Gene name	TATA-box binding protein associated factor 4b
Gene symbol	TAF4B
Synonyms (NCBI Gene)	SPGF13TAF2C2TAFII105
Chromosome	18
Chromosome location	18q11.2
Summary	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

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

136 Show/Hide all (136)

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
MIRT726397	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT726396	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1409448	hsa-miR-1183	CLIP-seq
MIRT1409449	hsa-miR-1236	CLIP-seq
MIRT1409450	hsa-miR-1248	CLIP-seq
MIRT1409451	hsa-miR-130a	CLIP-seq
MIRT1409452	hsa-miR-130b	CLIP-seq
MIRT1409453	hsa-miR-132	CLIP-seq
MIRT1409454	hsa-miR-148a	CLIP-seq
MIRT1409455	hsa-miR-148b	CLIP-seq
MIRT1409456	hsa-miR-152	CLIP-seq
MIRT1409457	hsa-miR-203	CLIP-seq
MIRT1409458	hsa-miR-212	CLIP-seq
MIRT1409459	hsa-miR-301a	CLIP-seq
MIRT1409460	hsa-miR-301b	CLIP-seq
MIRT1409461	hsa-miR-3143	CLIP-seq
MIRT1409462	hsa-miR-3156-5p	CLIP-seq
MIRT1409463	hsa-miR-3180-5p	CLIP-seq
MIRT1409464	hsa-miR-3187-3p	CLIP-seq
MIRT1409465	hsa-miR-3607-3p	CLIP-seq
MIRT1409466	hsa-miR-3666	CLIP-seq
MIRT1409467	hsa-miR-3686	CLIP-seq
MIRT1409468	hsa-miR-4269	CLIP-seq
MIRT1409469	hsa-miR-4295	CLIP-seq
MIRT1409470	hsa-miR-432	CLIP-seq
MIRT1409471	hsa-miR-4436a	CLIP-seq
MIRT1409472	hsa-miR-4443	CLIP-seq
MIRT1409473	hsa-miR-4529-5p	CLIP-seq
MIRT1409474	hsa-miR-454	CLIP-seq
MIRT1409475	hsa-miR-4643	CLIP-seq
MIRT1409476	hsa-miR-4645-5p	CLIP-seq
MIRT1409477	hsa-miR-466	CLIP-seq
MIRT1409478	hsa-miR-4673	CLIP-seq
MIRT1409479	hsa-miR-4682	CLIP-seq
MIRT1409480	hsa-miR-4690-3p	CLIP-seq
MIRT1409481	hsa-miR-4705	CLIP-seq
MIRT1409482	hsa-miR-4711-3p	CLIP-seq
MIRT1409483	hsa-miR-4724-3p	CLIP-seq
MIRT1409484	hsa-miR-4747-5p	CLIP-seq
MIRT1409485	hsa-miR-4766-3p	CLIP-seq
MIRT1409486	hsa-miR-4778-3p	CLIP-seq
MIRT1409487	hsa-miR-4789-3p	CLIP-seq
MIRT1409488	hsa-miR-4803	CLIP-seq
MIRT1409489	hsa-miR-511	CLIP-seq
MIRT1409490	hsa-miR-513a-3p	CLIP-seq
MIRT1409491	hsa-miR-520a-5p	CLIP-seq
MIRT1409492	hsa-miR-525-5p	CLIP-seq
MIRT1409493	hsa-miR-548a-5p	CLIP-seq
MIRT1409494	hsa-miR-548ab	CLIP-seq
MIRT1409495	hsa-miR-548ak	CLIP-seq
MIRT1409496	hsa-miR-548b-5p	CLIP-seq
MIRT1409497	hsa-miR-548c-5p	CLIP-seq
MIRT1409498	hsa-miR-548d-5p	CLIP-seq
MIRT1409499	hsa-miR-548h	CLIP-seq
MIRT1409500	hsa-miR-548i	CLIP-seq
MIRT1409501	hsa-miR-548j	CLIP-seq
MIRT1409502	hsa-miR-548k	CLIP-seq
MIRT1409503	hsa-miR-548l	CLIP-seq
MIRT1409504	hsa-miR-548w	CLIP-seq
MIRT1409505	hsa-miR-548y	CLIP-seq
MIRT1409506	hsa-miR-559	CLIP-seq
MIRT1409507	hsa-miR-592	CLIP-seq
MIRT1409508	hsa-miR-599	CLIP-seq
MIRT1409509	hsa-miR-627	CLIP-seq
MIRT1409510	hsa-miR-765	CLIP-seq
MIRT1409511	hsa-miR-924	CLIP-seq
MIRT2122782	hsa-miR-125a-3p	CLIP-seq
MIRT1409465	hsa-miR-3607-3p	CLIP-seq
MIRT2122783	hsa-miR-3934	CLIP-seq
MIRT2122784	hsa-miR-3977	CLIP-seq
MIRT2122785	hsa-miR-410	CLIP-seq
MIRT1409486	hsa-miR-4778-3p	CLIP-seq
MIRT1409487	hsa-miR-4789-3p	CLIP-seq
MIRT2122786	hsa-miR-764	CLIP-seq
MIRT2345161	hsa-miR-1271	CLIP-seq
MIRT1409451	hsa-miR-130a	CLIP-seq
MIRT1409452	hsa-miR-130b	CLIP-seq
MIRT2345162	hsa-miR-141	CLIP-seq
MIRT1409454	hsa-miR-148a	CLIP-seq
MIRT1409455	hsa-miR-148b	CLIP-seq
MIRT1409456	hsa-miR-152	CLIP-seq
MIRT2345163	hsa-miR-182	CLIP-seq
MIRT2345164	hsa-miR-200a	CLIP-seq
MIRT1409457	hsa-miR-203	CLIP-seq
MIRT2345165	hsa-miR-2052	CLIP-seq
MIRT2345166	hsa-miR-23a	CLIP-seq
MIRT2345167	hsa-miR-23b	CLIP-seq
MIRT2345168	hsa-miR-23c	CLIP-seq
MIRT1409459	hsa-miR-301a	CLIP-seq
MIRT1409460	hsa-miR-301b	CLIP-seq
MIRT2345169	hsa-miR-3121-3p	CLIP-seq
MIRT2345170	hsa-miR-34a	CLIP-seq
MIRT2345171	hsa-miR-34c-5p	CLIP-seq
MIRT1409466	hsa-miR-3666	CLIP-seq
MIRT1409469	hsa-miR-4295	CLIP-seq
MIRT2345172	hsa-miR-431	CLIP-seq
MIRT1409471	hsa-miR-4436a	CLIP-seq
MIRT2345173	hsa-miR-449a	CLIP-seq
MIRT2345174	hsa-miR-449b	CLIP-seq
MIRT1409474	hsa-miR-454	CLIP-seq
MIRT1409482	hsa-miR-4711-3p	CLIP-seq
MIRT1409486	hsa-miR-4778-3p	CLIP-seq
MIRT2345175	hsa-miR-5096	CLIP-seq
MIRT1409489	hsa-miR-511	CLIP-seq
MIRT1409490	hsa-miR-513a-3p	CLIP-seq
MIRT2345176	hsa-miR-514	CLIP-seq
MIRT2345177	hsa-miR-514b-3p	CLIP-seq
MIRT2345178	hsa-miR-549	CLIP-seq
MIRT1409507	hsa-miR-592	CLIP-seq
MIRT1409508	hsa-miR-599	CLIP-seq
MIRT2345179	hsa-miR-9	CLIP-seq
MIRT2345180	hsa-miR-96	CLIP-seq
MIRT1409465	hsa-miR-3607-3p	CLIP-seq
MIRT2461074	hsa-miR-1237	CLIP-seq
MIRT1409450	hsa-miR-1248	CLIP-seq
MIRT2461075	hsa-miR-200b	CLIP-seq
MIRT2461076	hsa-miR-200c	CLIP-seq
MIRT2461077	hsa-miR-3613-3p	CLIP-seq
MIRT2461078	hsa-miR-3926	CLIP-seq
MIRT2461079	hsa-miR-429	CLIP-seq
MIRT2461080	hsa-miR-494	CLIP-seq
MIRT2461081	hsa-miR-507	CLIP-seq
MIRT2461082	hsa-miR-548s	CLIP-seq
MIRT2461083	hsa-miR-557	CLIP-seq
MIRT2461084	hsa-miR-576-5p	CLIP-seq
MIRT2461085	hsa-miR-663b	CLIP-seq
MIRT2461077	hsa-miR-3613-3p	CLIP-seq
MIRT2461078	hsa-miR-3926	CLIP-seq
MIRT2461080	hsa-miR-494	CLIP-seq
MIRT2461082	hsa-miR-548s	CLIP-seq
MIRT2461085	hsa-miR-663b	CLIP-seq

29 Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	15601843
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IBA
GO:0005669	Component	Transcription factor TFIID complex	IDA	29111974
GO:0005669	Component	Transcription factor TFIID complex	IEA
GO:0005669	Component	Transcription factor TFIID complex	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006352	Process	DNA-templated transcription initiation	IEA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IC	29111974
GO:0030154	Process	Cell differentiation	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	17884155
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051059	Function	NF-kappaB binding	IPI	10849440
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	ISS
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	17884155
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA

MIM	HGNC	e!Ensembl
601689	11538	ENSG00000141384

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
PF05236	TAF4	616 → 859	Transcription initiation factor TFIID component TAF4 family	Family
PF07531	TAFH	258 → 349	NHR1 homology to TAF	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
EEFTRKLYVELKSSPQPHLVPFLKKSVVALRQLLPNSQSFIQQCVQQTSSDMVIATCTTT
VTTSPVVTTTVSSSQSEKSIIVSGATAPRTVSVQTLNPLAGPVGAKAGVVTLHSVGPTAA
TGGTTAGTGLLQTSKPLVTSVANTVTTVSLQPEKPVVSGTAVTLSLPAVTFGETSGAAIC
LPSVKPVVSSAGTTSDKPVIGTPVQIKLAQPGPVLSQPAGIPQAVQVKQLVVQQPSGGNE
KQVTTISHSSTLTIQKCGQKTMPVNTIIPTSQFPPASILKQITLPGNKILSLQASPTQKN
RIKENVTSCFRDEDDINDVTSMAGVNLNEENACILATNSELVGTLIQSCKDEPFLFIGAL
QKRILDIGKKHDITELNSDAVNLISQATQERLRGLLEKLTAIAQHRMTTYKASENYILCS
DTRSQLKFLEKLDQLEKQRKDLEEREMLLKAAKSRSNKEDPEQLRLKQKAKELQQLELAQ
IQHRDANLTALAAIGPRKKRPLESGIEGLKDNLLASGTSSLTATKQLHRPRITRICLRDL
IFCMEQEREMKYSRALYLALLK

Sequence length

862

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Basal transcription factors	RNA Polymerase II Pre-transcription Events
Huntington disease	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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 13	Pathogenic	rs587777427	RCV000122735	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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 (7)
BELL'S PALSY	—	GWAS catalog	33602968	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE ASTHMA	—	GWAS catalog	30657218	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	24431330, 24431330	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAF4B-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	20353996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	31377750, 32502024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	31377750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20353996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	19508998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	19508998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	20353996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 13	Spermatogenic Failure	GENOMICS_ENGLAND_DG	24431330		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 13	Spermatogenic Failure	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 13	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CATIP	2	["Male infertility single gene azoospermia","Spermatogenic failure"]	[]	5	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CCDC34	2	["Male infertility single gene azoospermia","Spermatogenic failure"]	[]	5	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
SPINK2	2	["Male infertility single gene azoospermia","Spermatogenic failure"]	[]	5	["Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","CTD (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
KLHL10	2	["Male infertility single gene azoospermia","Spermatogenic failure"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","CTD (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
NANOS1	2	["Male infertility single gene azoospermia","Spermatogenic failure"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","CTD (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]

TAF4B (TATA-box binding protein associated factor 4b)

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