Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

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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

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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
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
EEFTRKLYVELKSSPQPHLVPFLKKSVVALRQLLPNSQSFIQQCVQQTSSDMVIATCTTT
VTTSPVVTTTVSSSQSEKSIIVSGATAPRTVSVQTLNPLAGPVGAKAGVVTLHSVGPTAA
TGGTTAGTGLLQTSKPLVTSVANTVTTVSLQPEKPVVSGTAVTLSLPAVTFGETSGAAIC
LPSVKPVVSSAGTTSDKPVIGTPVQIKLAQPGPVLSQPAGIPQAVQVKQLVVQQPSGGNE
KQVTTISHSSTLTIQKCGQKTMPVNTIIPTSQFPPASILKQITLPGNKILSLQASPTQKN
RIKENVTSCFRDEDDINDVTSMAGVNLNEENACILATNSELVGTLIQSCKDEPFLFIGAL
QKRILDIGKKHDITELNSDAVNLISQATQERLRGLLEKLTAIAQHRMTTYKASENYILCS
DTRSQLKFLEKLDQLEKQRKDLEEREMLLKAAKSRSNKEDPEQLRLKQKAKELQQLELAQ
IQHRDANLTALAAIGPRKKRPLESGIEGLKDNLLASGTSSLTATKQLHRPRITRICLRDL
IFCMEQEREMKYSRALYLALLK

Sequence length

862

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (1)

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)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	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.
BELL'S PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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)

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