TAF9

gene
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Also known as TAFII31TAFII32TAFIID32MGC5067CGI-137MGC1603MGC3647AD-004

Summary

TAF9 (TATA-box binding protein associated factor 9, HGNC:11542) is a protein-coding gene on chromosome 5q13.2, encoding Transcription initiation factor TFIID subunit 9 (Q16594). The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription.

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5’ exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6880 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
  • Druggable target: yes — 1 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_003187

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11542
Approved symbolTAF9
NameTATA-box binding protein associated factor 9
Location5q13.2
Locus typegene with protein product
StatusApproved
AliasesTAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004
Ensembl geneENSG00000273841
Ensembl biotypeprotein_coding
OMIM600822
Entrez6880

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 4 retained_intron

ENST00000217893, ENST00000328663, ENST00000503245, ENST00000504109, ENST00000506736, ENST00000508954, ENST00000509462, ENST00000512152, ENST00000685776, ENST00000686157, ENST00000687205, ENST00000687836, ENST00000688968, ENST00000689249, ENST00000690749, ENST00000691076, ENST00000691515, ENST00000691555, ENST00000693414, ENST00000693538, ENST00000926367

RefSeq mRNA: 2 — MANE Select: NM_003187 NM_001015892, NM_003187

CCDS: CCDS4002

Canonical transcript exons

ENST00000217893 — 3 exons

ExonStartEnd
ENSE000018676416936946369369520
ENSE000020245346936474369365754
ENSE000037551726936650369366595

Expression profiles

Bgee: expression breadth ubiquitous, 144 present calls, max score 98.22.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0496 / max 111.5601, expressed in 577 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
6201960.01091817
620171.0125566
620230.177654
620180.03714

Top tissues by expression

144 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
left testisUBERON:000453398.22gold quality
right testisUBERON:000453498.15gold quality
testisUBERON:000047397.79gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099197.69gold quality
cortical plateUBERON:000534397.33gold quality
islet of LangerhansUBERON:000000696.98gold quality
rectumUBERON:000105295.70gold quality
superior frontal gyrusUBERON:000266195.67gold quality
prefrontal cortexUBERON:000045195.53gold quality
monocyteCL:000057695.40gold quality
dorsolateral prefrontal cortexUBERON:000983495.35gold quality
leukocyteCL:000073895.27gold quality
olfactory segment of nasal mucosaUBERON:000538695.27gold quality
bone marrowUBERON:000237195.24gold quality
frontal cortexUBERON:000187095.23gold quality
frontal lobeUBERON:001652595.23gold quality
Brodmann (1909) area 9UBERON:001354095.18gold quality
pituitary glandUBERON:000000795.13gold quality
adrenal tissueUBERON:001830395.12gold quality
cerebral cortexUBERON:000095695.00gold quality
stromal cell of endometriumCL:000225594.98gold quality
lymph nodeUBERON:000002994.96gold quality
anterior cingulate cortexUBERON:000983594.96gold quality
pancreasUBERON:000126494.94gold quality
smooth muscle tissueUBERON:000113594.92gold quality
adenohypophysisUBERON:000219694.87gold quality
hypothalamusUBERON:000189894.85gold quality
right frontal lobeUBERON:000281094.77gold quality
endometriumUBERON:000129594.72gold quality
brainUBERON:000095594.59gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TADA2A

miRNA regulators (miRDB)

17 targeting TAF9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-10523-5P99.9169.222038
HSA-MIR-548D-3P99.8770.674362
HSA-MIR-548BB-3P99.8670.584354
HSA-MIR-548AC99.8470.774351
HSA-MIR-548H-3P99.8470.804349
HSA-MIR-548Z99.8470.804349
HSA-MIR-4666B99.6468.691282
HSA-MIR-549A-3P99.5468.17825
HSA-MIR-892A99.5468.161141
HSA-MIR-445299.5068.451493
HSA-MIR-889-3P99.4069.762103
HSA-MIR-447899.0765.162320
HSA-MIR-392998.3265.581026
HSA-MIR-338-3P98.1467.381137
HSA-MIR-3074-3P97.8367.26922

Literature-anchored findings (GeneRIF, showing 10)

  • TAF9 depletion severely disrupts TFIID, indicating that the observed ongoing transcription is initiated with at least partially TAF-free TATA-binding protein. (PMID:12837753)
  • IL-1-inducible phosphorylation of p65 NFkB is mediated by multiple protein kinases including IKKalpha, IKKbeta, IKKepsilon, TBK1, and an unknown kinase and couples p65 to TAFII31-mediated IL-8 transcription (PMID:15489227)
  • histone fold domain mediated interaction enhances the DNA binding activity of each of the TAF6-TAF9 and TAF4b-TAF12 pairs and of a histone-like octamer complex composed of the four TAFs (PMID:15601843)
  • suggest a novel STAF65gamma-dependent function of STAGA-type complexes in cell proliferation and transcription activation by MYC postloading of TFIID and RNA polymerase II that involves direct recruitment of core Mediator (PMID:17967894)
  • TAF9 functionally supports EKLF activity by enhancing its ability to activate the beta-globin gene. TAF9 interacts with a conserved beta-globin downstream promoter element (PMID:19251649)
  • Multiple hTAF(II)31-binding motifs in the intrinsically unfolded transcriptional activation domain of VP16. (PMID:19643037)
  • TFIID TAF6-TAF9 complex formation involves the HEAT repeat-containing C-terminal domain of TAF6 and is modulated by TAF5 protein. (PMID:22696218)
  • findings suggest that p53 sequesters TAF9 from GLI1, which may contribute to inhibition of GLI1 activity by p53 (PMID:26282181)
  • TAF9 directly binds HCA587/MAGEC2 through its CR domain, suggesting that HCA587/MAGEC2 may involve in TAF9 binding with DNA to regulate certain genes transcription. (PMID:29257297)
  • Human cytomegalovirus pp65 peptide-induced autoantibodies cross-reacts with TAF9 protein and induces lupus-like autoimmunity in BALB/c mice. (PMID:32541894)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriotaf9ENSDARG00000077870
mus_musculusTaf9ENSMUSG00000052293
mus_musculusAk6ENSMUSG00000078941
rattus_norvegicusTaf9ENSRNOG00000039848
drosophila_melanogasterTaf9FBGN0000617
caenorhabditis_elegansWBGENE00006391

Paralogs (1): TAF9B (ENSG00000187325)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 9Q16594 (reviewed: Q16594)

Alternative names: RNA polymerase II TBP-associated factor subunit G, STAF31/32, Transcription initiation factor TFIID 31 kDa subunit, Transcription initiation factor TFIID 32 kDa subunit

All UniProt accessions (6): D6RGK3, D6RHW1, D6RIE8, D6RIV9, D6RIY1, Q16594

UniProt curated annotations — full annotation on UniProt →

Function. The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. TAF9 is also a component of the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TAF9 and its paralog TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. Essential for cell viability. May have a role in gene regulation associated with apoptosis.

Subunit / interactions. Component of the TFIID basal transcription factor complex, composed of TATA-box-binding protein TBP, and a number of TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. Component of the TATA-binding protein-free TAF complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. The PCAF complex consists at least of TADA2L/ADA2, SUPT3H/SPT3, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. The STAGA transcription coactivator-HAT complex consists at least of SUPT3H, GCN5L2, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. Binds N-terminal domain of p53/TP53 which is essential for transcription. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BACC1, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Binds TFIIB and the Herpes simplex virus activator VP16. Forms a heterodimer with TAF6 in a complex with the TAF4B-TAF12 heterodimer. Also interacts with TAF5. Binds directly DNA. Increased DNA binding when complexed with TAF6.

Subcellular location. Nucleus.

Induction. 6 to 8-fold by apoptotic signals.

Similarity. Belongs to the TAF9 family.

RefSeq proteins (2): NP_001015892, NP_003178* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003162TFIID-31Family
IPR009072Histone-foldHomologous_superfamily
IPR051431TFIID_subunit_9/TAF9Family

Pfam: PF02291

UniProt features (28 total): modified residue 11, helix 4, compositionally biased region 3, sequence variant 2, region of interest 2, sequence conflict 2, chain 1, DNA-binding region 1, turn 1, strand 1

Structure

Experimental structures (PDB)

31 structures, top 30 by resolution.

PDBMethodResolution (Å)
6F3TX-RAY DIFFRACTION2.5
7EGGELECTRON MICROSCOPY2.77
7EGFELECTRON MICROSCOPY3.16
7EGBELECTRON MICROSCOPY3.3
7EG9ELECTRON MICROSCOPY3.7
8H7GELECTRON MICROSCOPY3.7
7EGCELECTRON MICROSCOPY3.9
7ENAELECTRON MICROSCOPY4.07
7EGAELECTRON MICROSCOPY4.1
7ENCELECTRON MICROSCOPY4.13
8GXSELECTRON MICROSCOPY4.16
6MZCELECTRON MICROSCOPY4.5
7EDXELECTRON MICROSCOPY4.5
8GXQELECTRON MICROSCOPY5.04
8WAKELECTRON MICROSCOPY5.47
8WAPELECTRON MICROSCOPY5.85
8WANELECTRON MICROSCOPY6.07
8WASELECTRON MICROSCOPY6.13
7EG7ELECTRON MICROSCOPY6.2
8WAQELECTRON MICROSCOPY6.29
8WAOELECTRON MICROSCOPY6.4
7EGDELECTRON MICROSCOPY6.75
8WARELECTRON MICROSCOPY7.2
7EG8ELECTRON MICROSCOPY7.4
6MZMELECTRON MICROSCOPY7.5
8WALELECTRON MICROSCOPY8.52
7EGJELECTRON MICROSCOPY8.64
7EGEELECTRON MICROSCOPY9
6MZDELECTRON MICROSCOPY9.8
7EGIELECTRON MICROSCOPY9.82

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q16594-F167.860.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (11): 155, 158, 159, 161, 164, 178, 181, 196, 5, 149, 152

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

IDPathway
R-HSA-167161HIV Transcription Initiation
R-HSA-167162RNA Polymerase II HIV Promoter Escape
R-HSA-167172Transcription of the HIV genome
R-HSA-3214847HATs acetylate histones
R-HSA-674695RNA Polymerase II Pre-transcription Events
R-HSA-6804756Regulation of TP53 Activity through Phosphorylation
R-HSA-6807505RNA polymerase II transcribes snRNA genes
R-HSA-73776RNA Polymerase II Promoter Escape
R-HSA-73779RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-75953RNA Polymerase II Transcription Initiation
R-HSA-76042RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-162587HIV Life Cycle
R-HSA-162599Late Phase of HIV Life Cycle
R-HSA-162906HIV Infection
R-HSA-1643685Disease
R-HSA-212436Generic Transcription Pathway
R-HSA-3247509Chromatin modifying enzymes
R-HSA-3700989Transcriptional Regulation by TP53
R-HSA-4839726Chromatin organization
R-HSA-5633007Regulation of TP53 Activity
R-HSA-5663205Infectious disease
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74160Gene expression (Transcription)
R-HSA-9824446Viral Infection Pathways

MSigDB gene sets: 274 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, NAGY_STAGA_COMPONENTS_HUMAN, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_RESPONSE_TO_PEPTIDE, GCM_MSN, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GCM_NPM1, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CGGAARNGGCNG_UNKNOWN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE

GO Biological Process (20): box C/D snoRNP assembly (GO:0000492), regulation of DNA repair (GO:0006282), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), mRNA transcription by RNA polymerase II (GO:0042789), negative regulation of apoptotic process (GO:0043066), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), protein stabilization (GO:0050821), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), positive regulation of response to cytokine stimulus (GO:0060760), response to interleukin-1 (GO:0070555), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), DNA-templated transcription initiation (GO:0006352), transcription by RNA polymerase II (GO:0006366)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), p53 binding (GO:0002039), DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), RNA polymerase II general transcription initiation factor activity (GO:0016251), protein heterodimerization activity (GO:0046982), ATPase binding (GO:0051117), C2H2 zinc finger domain binding (GO:0070742), DNA-binding transcription factor binding (GO:0140297), histone acetyltransferase activity (GO:0004402), protein binding (GO:0005515)

GO Cellular Component (7): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), transcription factor TFTC complex (GO:0033276), pre-snoRNP complex (GO:0070761), MLL1 complex (GO:0071339)

Reactome top-level categories

Rollup of top-12 pathways:

CategoryPathways
RNA Polymerase II Transcription5
Transcription of the HIV genome2
RNA Polymerase II Transcription Initiation And Promoter Clearance2
Late Phase of HIV Life Cycle1
Chromatin modifying enzymes1
Regulation of TP53 Activity1
HIV Infection1
HIV Life Cycle1
Viral Infection Pathways1
Chromatin organization1
Generic Transcription Pathway1
Transcriptional Regulation by TP531

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
DNA-templated transcription4
transcription by RNA polymerase II4
regulation of gene expression2
regulation of DNA-templated transcription2
positive regulation of DNA-templated transcription2
transcription initiation at RNA polymerase II promoter2
response to cytokine2
SAGA-type complex2
RNA polymerase II, holoenzyme2
RNA polymerase II transcription regulator complex2
small nucleolar ribonucleoprotein complex assembly1
DNA repair1
regulation of DNA metabolic process1
regulation of cellular response to stress1
chromatin organization1
regulation of RNA biosynthetic process1
cellular response to stress1
regulation of proteasomal ubiquitin-dependent protein catabolic process1
proteasome-mediated ubiquitin-dependent protein catabolic process1
negative regulation of proteasomal protein catabolic process1
negative regulation of ubiquitin-dependent protein catabolic process1
mRNA transcription1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
RNA splicing1
regulation of primary metabolic process1
positive regulation of RNA biosynthetic process1
regulation of transcription by RNA polymerase II1
regulation of protein stability1
transcription preinitiation complex assembly1
positive regulation of transcription by RNA polymerase II1
regulation of transcription initiation by RNA polymerase II1
positive regulation of DNA-templated transcription initiation1
positive regulation of response to stimulus1
regulation of response to cytokine stimulus1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator1

Protein interactions and networks

STRING

1969 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TAF9TAF12Q16514999
TAF9TAF6P49848999
TAF9KAT2BQ92831997
TAF9TAF10Q12962997
TAF9TAF5Q15542997
TAF9KAT2AQ92830994
TAF9TAF4O00268993
TAF9TBPP20226950
TAF9TADA2BQ86TJ2945
TAF9TADA3O75528908
TAF9TAF7Q15545900
TAF9SGF29Q96ES7895
TAF9TAF8Q7Z7C8881
TAF9TAF1P21675872
TAF9SUPT7LO94864862

IntAct

194 interactions, top by confidence:

ABTypeScore
TAF6LTAF9psi-mi:“MI:0915”(physical association)0.880
TAF9TAF6Lpsi-mi:“MI:0915”(physical association)0.880
TAF6LTAF9psi-mi:“MI:0407”(direct interaction)0.880
TAF9DRAP1psi-mi:“MI:0915”(physical association)0.870
DRAP1TAF9psi-mi:“MI:0915”(physical association)0.870
SGF29NDC80psi-mi:“MI:0914”(association)0.840
TAF5TAF6psi-mi:“MI:0407”(direct interaction)0.760
TAF5TAF6psi-mi:“MI:0914”(association)0.760
TAF5TAF6psi-mi:“MI:0915”(physical association)0.760
TAF12TAF4psi-mi:“MI:0914”(association)0.760
TAF9KPNA1psi-mi:“MI:0915”(physical association)0.740

BioGRID (312): TAF9 (Two-hybrid), TAF9 (Two-hybrid), NDRG1 (Two-hybrid), LAMTOR5 (Two-hybrid), DRAP1 (Two-hybrid), TAF6L (Two-hybrid), TAF9 (Protein-peptide), TAF9 (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF9 (Two-hybrid), DRAP1 (Two-hybrid), CHD2 (Co-fractionation)

ESM2 similar proteins: B0R0I6, E9Q7E2, O08949, O13722, O89090, P08047, P14859, P15143, P16143, P25425, P31503, P39769, P47825, P49880, P51611, P52655, Q01714, Q02086, Q02446, Q08CM4, Q0IHV2, Q16594, Q17QQ4, Q28BL7, Q29076, Q29A33, Q3TUF7, Q571G4, Q5BKE0, Q5E9U0, Q5F3U0, Q5R7P7, Q5RBN8, Q5RCU0, Q62445, Q62880, Q641Z1, Q68CP9, Q6MZP7, Q6NZA9

Diamond homologs: O45784, Q16594, Q17QQ4, Q5BKE0, Q5R7P7, Q62880, Q6NZA9, Q8VI33, Q9HBM6, Q05027, Q09869, Q9SYH2, Q27272, Q8SSI9

SIGNOR signaling

2 interactions.

AEffectBMechanism
TAF9“form complex”TFIIDbinding
TAF9“form complex”“SAGA complex”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
HIV Transcription Initiation1021.8×1e-09
RNA Polymerase II HIV Promoter Escape1021.8×1e-09
RNA Polymerase II Promoter Escape1021.8×1e-09
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening1021.8×1e-09
RNA Polymerase II Transcription Initiation1021.8×1e-09
RNA Polymerase II Transcription Initiation And Promoter Clearance1021.8×1e-09
Formation of WDR5-containing histone-modifying complexes717.4×3e-06
Transcription of the HIV genome1016.2×3e-08

GO biological processes:

GO termPartnersFoldFDR
regulation of DNA repair2142.0×3e-26
DNA-templated transcription initiation640.7×5e-07
regulation of RNA splicing1828.6×5e-19
regulation of cell division527.8×5e-05
RNA polymerase II preinitiation complex assembly1427.6×2e-14
transcription initiation at RNA polymerase II promoter924.4×1e-08
positive regulation of transcription initiation by RNA polymerase II1223.6×2e-11
mRNA transcription by RNA polymerase II921.6×4e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

760 predictions. Top by Δscore:

VariantEffectΔscore
5:69365751:CAGA:Cacceptor_gain1.0000
5:69365757:T:TCacceptor_gain1.0000
5:69365763:C:CTacceptor_gain1.0000
5:69365763:CATT:Cacceptor_gain1.0000
5:69365764:A:Cacceptor_gain1.0000
5:69365766:T:Cacceptor_gain1.0000
5:69365766:T:TCacceptor_gain1.0000
5:69366498:CTTA:Cdonor_loss1.0000
5:69366499:TTA:Tdonor_loss1.0000
5:69366500:TA:Tdonor_loss1.0000
5:69366501:A:AGdonor_loss1.0000
5:69366502:CCT:Cdonor_loss1.0000
5:69369934:G:GGdonor_gain1.0000
5:69365755:C:CCacceptor_gain0.9900
5:69365756:T:Cacceptor_gain0.9900
5:69365757:T:Cacceptor_gain0.9900
5:69365764:A:ACacceptor_gain0.9900
5:69365764:A:Tacceptor_gain0.9900
5:69365765:T:Cacceptor_gain0.9900
5:69365765:T:TCacceptor_gain0.9900
5:69366502:CCTT:Cdonor_gain0.9900
5:69366593:TACC:Tacceptor_loss0.9900
5:69366594:ACCT:Aacceptor_loss0.9900
5:69366595:CCTGT:Cacceptor_loss0.9900
5:69366596:CT:Cacceptor_loss0.9900
5:69366597:T:Gacceptor_loss0.9900
5:69369444:C:Adonor_gain0.9900
5:69369456:C:CAdonor_gain0.9900
5:69369931:A:Tdonor_gain0.9900
5:69365750:TCAGA:Tacceptor_gain0.9800

AlphaMissense

1712 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:69365391:G:TP116Q1.000
5:69365394:A:GL115S1.000
5:69365452:C:GA96P1.000
5:69365517:G:TA74E1.000
5:69365518:C:GA74P1.000
5:69365577:G:TA54E1.000
5:69365578:C:GA54P1.000
5:69365670:A:GL23P1.000
5:69365359:A:CY127D0.999
5:69365360:G:CN126K0.999
5:69365360:G:TN126K0.999
5:69365375:G:CC121W0.999
5:69365381:T:AR119S0.999
5:69365381:T:GR119S0.999
5:69365382:C:GR119T0.999
5:69365391:G:CP116R0.999
5:69365392:G:AP116S0.999
5:69365392:G:TP116T0.999
5:69365394:A:CL115W0.999
5:69365403:C:TG112D0.999
5:69365427:A:CL104W0.999
5:69365427:A:GL104S0.999
5:69365438:A:CN100K0.999
5:69365438:A:TN100K0.999
5:69365440:T:CN100D0.999
5:69365451:G:TA96E0.999
5:69365478:G:TP87H0.999
5:69365520:A:GL73S0.999
5:69365526:A:TV71E0.999
5:69365529:T:AD70V0.999

dbSNP variants (sampled 300 via entrez): RS1000831641 (5:69370747 G>T), RS1000973410 (5:69370684 T>G), RS1001053447 (5:69370924 T>C), RS1001289306 (5:69370536 C>T), RS1002070157 (5:69369875 C>A,G,T), RS1002176114 (5:69371338 T>C), RS1002362240 (5:69366244 G>A), RS1002688662 (5:69371389 A>G), RS1002734364 (5:69365900 T>A), RS1003030835 (5:69368738 TAA>T,TAAA), RS1003772324 (5:69367579 CAAGAT>C), RS1004494246 (5:69367927 G>A), RS1004614402 (5:69368160 CAT>C), RS1005337696 (5:69364350 AT>A,ATT), RS1005781760 (5:69364569 T>C)

Disease associations

OMIM: gene MIM:600822 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
schizophreniaNo Known Disease RelationshipUnknown

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725078 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL1232461MOLIBRESIB21,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.31IC50490nMMOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide2178525: Inhibition of TAF9 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysisic500.4900uM

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Fulvestrantdecreases expression, increases expression2
Estradiolincreases expression2
Valproic Acidaffects expression, decreases methylation2
Raloxifene Hydrochloridedecreases expression, increases expression2
FR900359increases phosphorylation1
TAK-243increases sumoylation1
dicrotophosdecreases expression1
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects expression1
afimoxifenedecreases expression1
sodium arseniteincreases expression1
cobaltous chlorideincreases expression1
deguelinincreases expression1
GW 7604increases expression1
thifluzamideincreases expression1
pyrachlostrobinincreases expression1
picoxystrobinincreases expression1
(+)-JQ1 compoundincreases expression1
PCI 5002affects cotreatment, increases expression1
Resveratrolaffects cotreatment, increases expression1
Antimycin Aincreases expression1
Caffeineaffects phosphorylation1
Doxorubicindecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Quercetinincreases expression1
Rotenoneincreases expression1
Thimerosalincreases expression1
Zincaffects cotreatment, increases expression1
Aflatoxin B1increases methylation1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5697255BindingInhibition of TAF9 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysisInhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00000374PHASE4COMPLETEDTreatment for First-Episode Schizophrenia
NCT00001656PHASE4COMPLETEDComparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774PHASE4COMPLETEDTo Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001PHASE4COMPLETEDCATIE- Schizophrenia Trial
NCT00018668PHASE4COMPLETEDAntipsychotic Response in Schizophrenia
NCT00034801PHASE4COMPLETEDOlanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905PHASE4COMPLETEDA Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088PHASE4COMPLETEDOlanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187PHASE4COMPLETEDThe Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655PHASE4COMPLETEDSwitching Medication to Treat Schizophrenia
NCT00048828PHASE4COMPLETEDTreating Drug-Resistant Childhood Schizophrenia
NCT00053703PHASE4COMPLETEDTreatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498PHASE4COMPLETEDRisperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802PHASE4COMPLETEDEfficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327PHASE4COMPLETEDStudy of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049PHASE4COMPLETEDStudy of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012PHASE4COMPLETEDComparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776PHASE4COMPLETEDEfficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571PHASE4COMPLETEDOlanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368PHASE4COMPLETEDThe Effects of Risperidone and Olanzapine on Thinking
NCT00114595PHASE4COMPLETEDEthyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923PHASE4COMPLETEDRisperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020PHASE4COMPLETEDClinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166PHASE4COMPLETEDTreatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847PHASE4COMPLETEDNaltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564PHASE4COMPLETEDEnergy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715PHASE4COMPLETEDEfficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223PHASE4COMPLETEDEffectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081PHASE4COMPLETEDOne Year Drug Treatment in First-Episode Schizophrenia
NCT00159120PHASE4COMPLETEDMaintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133PHASE4COMPLETEDProdrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757PHASE4TERMINATED12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817PHASE4COMPLETEDEffect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026PHASE4TERMINATEDAlcoholism and Schizophrenia: Effects of Clozapine
NCT00169039PHASE4TERMINATEDClozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065PHASE4COMPLETEDEffectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091PHASE4TERMINATEDClozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423PHASE4COMPLETEDEfficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436PHASE4COMPLETEDAtomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008PHASE4COMPLETEDAripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety
  • Associated diseases: schizophrenia
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): schizophrenia