TAF11

Summary

TAF11 (TATA-box binding protein associated factor 11, HGNC:11544) is a protein-coding gene on chromosome 6p21.31, encoding Transcription initiation factor TFIID subunit 11 (Q15544). 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 a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6882 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 25 total
• Druggable target: yes
• MANE Select transcript: NM_005643

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11544
Approved symbol	TAF11
Name	TATA-box binding protein associated factor 11
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	TAFII28
Ensembl gene	ENSG00000064995
Ensembl biotype	protein_coding
OMIM	600772
Entrez	6882

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay

ENST00000361288, ENST00000420584, ENST00000650109, ENST00000685682, ENST00000686190, ENST00000687970, ENST00000688059, ENST00000689560, ENST00000690161, ENST00000691871, ENST00000693481, ENST00000693593, ENST00000912391, ENST00000912392, ENST00000950462, ENST00000950463

RefSeq mRNA: 2 — MANE Select: NM_005643 NM_001270488, NM_005643

CCDS: CCDS4797, CCDS59014

Canonical transcript exons

ENST00000361288 — 5 exons

Exon	Start	End
ENSE00000746232	34882932	34883080
ENSE00000746323	34879967	34880063
ENSE00001383789	34880289	34880376
ENSE00001853667	34887787	34888042
ENSE00002281917	34877462	34878720

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 94.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2888 / max 271.6326, expressed in 1818 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73267	25.7421	1818
73266	1.5467	785

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	94.19	gold quality
esophagus squamous epithelium	UBERON:0006920	94.04	gold quality
tibia	UBERON:0000979	93.68	gold quality
buccal mucosa cell	CL:0002336	93.67	gold quality
penis	UBERON:0000989	93.62	gold quality
epithelium of esophagus	UBERON:0001976	92.73	gold quality
superior surface of tongue	UBERON:0007371	92.59	gold quality
pylorus	UBERON:0001166	92.44	gold quality
palpebral conjunctiva	UBERON:0001812	92.44	gold quality
mammary duct	UBERON:0001765	92.36	gold quality
epithelium of mammary gland	UBERON:0003244	92.30	gold quality
blood vessel layer	UBERON:0004797	92.14	gold quality
urethra	UBERON:0000057	92.04	gold quality
parietal pleura	UBERON:0002400	92.03	gold quality
germinal epithelium of ovary	UBERON:0001304	91.91	gold quality
synovial joint	UBERON:0002217	91.81	gold quality
cardia of stomach	UBERON:0001162	91.71	gold quality
visceral pleura	UBERON:0002401	91.64	gold quality
pleura	UBERON:0000977	91.54	gold quality
squamous epithelium	UBERON:0006914	91.52	gold quality
saphenous vein	UBERON:0007318	91.52	gold quality
upper leg skin	UBERON:0004262	91.43	gold quality
granulocyte	CL:0000094	91.10	gold quality
trigeminal ganglion	UBERON:0001675	91.06	gold quality
pharyngeal mucosa	UBERON:0000355	91.02	gold quality
cortical plate	UBERON:0005343	90.96	gold quality
endometrium	UBERON:0001295	90.85	gold quality
right testis	UBERON:0004534	90.85	gold quality
monocyte	CL:0000576	90.75	gold quality
mononuclear cell	CL:0000842	90.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO1, SATB1, TBP

miRNA regulators (miRDB)

50 targeting TAF11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-4695-5P	99.06	64.87	1151

Literature-anchored findings (GeneRIF, showing 1)

• In an integrative approach combining crystal coordinates, biochemical analyses and data from cross-linking mass-spectrometry (CLMS), the authors determine the architecture of the TAF11/TAF13/TBP complex, revealing TAF11/TAF13 interaction with the DNA binding surface of TBP. (PMID:29111974)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf11	ENSDARG00000037855
mus_musculus	Taf11	ENSMUSG00000024218
rattus_norvegicus	Taf11	ENSRNOG00000024601
rattus_norvegicus	Taf11l1	ENSRNOG00000027511
drosophila_melanogaster	Taf11	FBGN0011291
caenorhabditis_elegans		WBGENE00006393
caenorhabditis_elegans	taf-11.2	WBGENE00006394

Paralogs (14): TAF11L12 (ENSG00000249156), LINC02218 (ENSG00000249662), TAF11L14 (ENSG00000250782), TAF11L11 (ENSG00000283740), TAF11L13 (ENSG00000283776), TAF11L8 (ENSG00000283967), TAF11L9 (ENSG00000283988), TAF11L6 (ENSG00000284042), TAF11L5 (ENSG00000284234), TAF11L4 (ENSG00000284283), TAF11L10 (ENSG00000284356), TAF11L2 (ENSG00000284373), TAF11L3 (ENSG00000284439), TAF11L7 (ENSG00000284465)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 11 — Q15544 (reviewed: Q15544)

Alternative names: TFIID subunit p30-beta, Transcription initiation factor TFIID 28 kDa subunit

All UniProt accessions (5): Q15544, A0A3B3ITY8, A0A8I5KXB1, A0A8I5KXE9, A0A8I5QJJ3

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. TAF11, together with TAF13 and TBP, play key roles during promoter binding by the TFIID and TFIIA transcription factor complexes.

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. Interacts with TAF13 both in vitro and intracellularly; also interacts directly with TBP.

Subcellular location. Nucleus.

Domain organisation. TBP and TAFII18 bind to distinct domains of TAFII28.

Similarity. Belongs to the TAF11 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15544-1	1	yes
Q15544-2	2

RefSeq proteins (2): NP_001257417, NP_005634* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006809	TAFII28_dom	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR045127	TAF11-like	Family

Pfam: PF04719

UniProt features (13 total): helix 4, compositionally biased region 3, sequence variant 2, chain 1, region of interest 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

28 structures.

PDB	Method	Resolution (Å)
1BH9	X-RAY DIFFRACTION	2.6
1BH8	X-RAY DIFFRACTION	3
7EGF	ELECTRON MICROSCOPY	3.16
7EGB	ELECTRON MICROSCOPY	3.3
7EG9	ELECTRON MICROSCOPY	3.7
7EGC	ELECTRON MICROSCOPY	3.9
7ENA	ELECTRON MICROSCOPY	4.07
7EGA	ELECTRON MICROSCOPY	4.1
7ENC	ELECTRON MICROSCOPY	4.13
8GXS	ELECTRON MICROSCOPY	4.16
7EDX	ELECTRON MICROSCOPY	4.5
8GXQ	ELECTRON MICROSCOPY	5.04
8WAK	ELECTRON MICROSCOPY	5.47
8WAP	ELECTRON MICROSCOPY	5.85
8WAN	ELECTRON MICROSCOPY	6.07
8WAS	ELECTRON MICROSCOPY	6.13
7EG7	ELECTRON MICROSCOPY	6.2
8WAQ	ELECTRON MICROSCOPY	6.29
8WAO	ELECTRON MICROSCOPY	6.4
7EGD	ELECTRON MICROSCOPY	6.75
8WAR	ELECTRON MICROSCOPY	7.2
7EG8	ELECTRON MICROSCOPY	7.4
8WAL	ELECTRON MICROSCOPY	8.52
7EGJ	ELECTRON MICROSCOPY	8.64
7EGE	ELECTRON MICROSCOPY	9
6MZD	ELECTRON MICROSCOPY	9.8
7EGI	ELECTRON MICROSCOPY	9.82
6MZL	ELECTRON MICROSCOPY	23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15544-F1	73.01	0.45

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

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

MSigDB gene sets: 207 (showing top): AHRARNT_01, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, PAX4_01, GOBP_HOST_MEDIATED_ACTIVATION_OF_VIRAL_TRANSCRIPTION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, MORF_HDAC1, MORF_UBE2N, MORF_RAD21, GENTILE_RESPONSE_CLUSTER_D3, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, PAX2_01, PUJANA_CHEK2_PCC_NETWORK, MORF_SKP1A

GO Biological Process (6): transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367), mRNA transcription by RNA polymerase II (GO:0042789), host-mediated activation of viral transcription (GO:0043923), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (7): transcription coactivator activity (GO:0003713), RNA polymerase II general transcription initiation factor activity (GO:0016251), TBP-class protein binding (GO:0017025), nuclear vitamin D receptor binding (GO:0042809), nuclear thyroid hormone receptor binding (GO:0046966), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RNA Polymerase II Transcription	5
Transcription of the HIV genome	2
RNA Polymerase II Transcription Initiation And Promoter Clearance	2
Late Phase of HIV Life Cycle	1
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Disease	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	3
transcription initiation at RNA polymerase II promoter	2
nuclear receptor binding	2
intracellular membrane-bounded organelle	2
DNA-templated transcription	1
DNA-templated transcription initiation	1
mRNA transcription	1
host-mediated perturbation of viral transcription	1
host-mediated activation of viral process	1
transcription preinitiation complex assembly	1
positive regulation of transcription by RNA polymerase II	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
general transcription initiation factor activity	1
general transcription initiation factor binding	1
protein dimerization activity	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
RNA polymerase II transcription regulator complex	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF11	TAF13	Q15543	998
TAF11	TAF12	Q16514	976
TAF11	TAF8	Q7Z7C8	970
TAF11	TAF10	Q12962	968
TAF11	TAF6	P49848	950
TAF11	TBP	P20226	920
TAF11	TAF1	P21675	901
TAF11	TAF5	Q15542	858
TAF11	TAF2	Q6P1X5	842
TAF11	TAF9	Q16594	838
TAF11	TAF4	O00268	822
TAF11	TAF7	Q15545	796
TAF11	GTF2B	Q00403	696
TAF11	BASP1	P80723	694
TAF11	TAF3	Q5VWG9	687

IntAct

43 interactions, top by confidence:

A	B	Type	Score
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TBP	TAF4	psi-mi:“MI:0914”(association)	0.730
TAF11	APPBP2	psi-mi:“MI:0915”(physical association)	0.720
APPBP2	TAF11	psi-mi:“MI:0915”(physical association)	0.720
TAF10	TAF4	psi-mi:“MI:0914”(association)	0.650
TAF10	TAF4	psi-mi:“MI:0915”(physical association)	0.650
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
TAF8	TAF4	psi-mi:“MI:0914”(association)	0.530
SPATA25	TAF4	psi-mi:“MI:0914”(association)	0.530
TAF7L	TAF4	psi-mi:“MI:0914”(association)	0.530
GTF2A2	TAF4	psi-mi:“MI:0915”(physical association)	0.490
TAF13	TAF11	psi-mi:“MI:0407”(direct interaction)	0.440
TAF11	TAF13	psi-mi:“MI:0407”(direct interaction)	0.440
TAF11	LZTR1	psi-mi:“MI:0915”(physical association)	0.370
TSNAX		psi-mi:“MI:0914”(association)	0.350
Mtx1	BDP1	psi-mi:“MI:0914”(association)	0.350
MYH7	TARS3	psi-mi:“MI:0914”(association)	0.350
Slain1	OARD1	psi-mi:“MI:0914”(association)	0.350
CCNA2	ZC3H18	psi-mi:“MI:0914”(association)	0.350
Ufl1	PRSS1	psi-mi:“MI:0914”(association)	0.350
Ndc80	SMCHD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): APPBP2 (Two-hybrid), TAF11 (Protein-peptide), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS), TAF11 (Affinity Capture-MS)

ESM2 similar proteins: A0A097I2B5, A0A097I2D0, A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PPW3, A0A1W2PQ09, A0A1W2PR64, A0A1W2PRV1, A6NLC8, C8VBH4, F4HR03, F4IAE9, O18216, P06898, P0C1H6, P0C7L7, P0DW11, P0DW12, P0DW13, P0DW14, P40284, P49906, P81195, P81196, P81198, P81200, P81201, Q0MTC0, Q15544, Q4IB50, Q4P3S3, Q4WTT2, Q54WG6, Q5RA91, Q5U1X0, Q626C1, Q6CER9, Q6FXD0

Diamond homologs: A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PPW3, A0A1W2PQ09, A0A1W2PR64, A0A1W2PRV1, A6NLC8, F4HR03, P0DW11, P0DW12, P0DW13, P0DW14, P49906, Q15544, Q54XM9, Q5RA91, Q5U1X0, Q99JX1, Q9M565, Q9US54, Q04226

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SATB1	“up-regulates quantity by expression”	TAF11	“transcriptional regulation”
TAF11	“form complex”	TFIID	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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:

Pathway	Partners	Fold	FDR
HIV Transcription Initiation	9	110.4×	6e-16
RNA Polymerase II HIV Promoter Escape	9	110.4×	6e-16
RNA Polymerase II Promoter Escape	9	110.4×	6e-16
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	9	110.4×	6e-16
RNA Polymerase II Transcription Initiation	9	110.4×	6e-16
RNA Polymerase II Transcription Initiation And Promoter Clearance	9	110.4×	6e-16
Transcription of the HIV genome	9	82.0×	1e-14
Late Phase of HIV Life Cycle	8	70.7×	1e-12

GO biological processes:

GO term	Partners	Fold	FDR
DNA-templated transcription initiation	5	167.2×	2e-09
transcription initiation at RNA polymerase II promoter	8	107.0×	2e-13
RNA polymerase II preinitiation complex assembly	10	97.1×	4e-16
positive regulation of transcription initiation by RNA polymerase II	9	87.4×	3e-14
mRNA transcription by RNA polymerase II	7	82.6×	6e-11
transcription by RNA polymerase II	6	15.1×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1294 predictions. Top by Δscore:

Variant	Effect	Δscore
6:34880065:T:C	acceptor_gain	1.0000
6:34880065:T:TC	acceptor_gain	1.0000
6:34880354:C:CT	acceptor_gain	1.0000
6:34880355:A:T	acceptor_gain	1.0000
6:34882925:GACTT:G	donor_loss	1.0000
6:34882926:ACTTA:A	donor_loss	1.0000
6:34882927:CTTAC:C	donor_loss	1.0000
6:34882928:TT:T	donor_loss	1.0000
6:34882929:TA:T	donor_loss	1.0000
6:34882930:A:AC	donor_gain	1.0000
6:34882930:AC:A	donor_loss	1.0000
6:34882930:ACTG:A	donor_gain	1.0000
6:34882931:C:CA	donor_gain	1.0000
6:34882931:CT:C	donor_gain	1.0000
6:34882931:CTG:C	donor_gain	1.0000
6:34882931:CTGC:C	donor_gain	1.0000
6:34882931:CTGCA:C	donor_gain	1.0000
6:34883077:CGAG:C	acceptor_gain	1.0000
6:34883081:C:CC	acceptor_gain	1.0000
6:34887794:T:TA	donor_gain	1.0000
6:34880061:CAG:C	acceptor_gain	0.9900
6:34880061:CAGCT:C	acceptor_gain	0.9900
6:34880062:A:T	acceptor_gain	0.9900
6:34880287:AC:A	donor_gain	0.9900
6:34880288:CC:C	donor_gain	0.9900
6:34880377:C:CC	acceptor_gain	0.9900
6:34883076:TCGAG:T	acceptor_gain	0.9900
6:34883077:CGAGC:C	acceptor_gain	0.9900
6:34883078:GAG:G	acceptor_gain	0.9900
6:34883079:AG:A	acceptor_gain	0.9900

AlphaMissense

1385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:34878658:C:G	A190P	1.000
6:34879984:C:T	G163E	1.000
6:34879985:C:G	G163R	1.000
6:34879985:C:T	G163R	1.000
6:34879995:C:A	K159N	1.000
6:34879995:C:G	K159N	1.000
6:34879997:T:C	K159E	1.000
6:34879997:T:G	K159Q	1.000
6:34880005:C:T	G156D	1.000
6:34880006:C:G	G156R	1.000
6:34880014:G:T	A153D	1.000
6:34880017:A:C	I152S	1.000
6:34880017:A:T	I152N	1.000
6:34880020:A:T	V151D	1.000
6:34880320:C:G	R126P	1.000
6:34880321:G:T	R126S	1.000
6:34880324:G:T	R125S	1.000
6:34880344:A:G	L118P	1.000
6:34880371:A:G	L109P	1.000
6:34878650:T:A	R192S	0.999
6:34878650:T:G	R192S	0.999
6:34878651:C:G	R192T	0.999
6:34878657:G:T	A190D	0.999
6:34878662:C:A	R188S	0.999
6:34878662:C:G	R188S	0.999
6:34878663:C:A	R188M	0.999
6:34879967:C:G	A169P	0.999
6:34879984:C:A	G163V	0.999
6:34879985:C:A	G163W	0.999
6:34879987:A:T	V162D	0.999

dbSNP variants (sampled 300 via entrez): RS1000066968 (6:34877564 A>G), RS1000143542 (6:34886918 T>A), RS1000478388 (6:34882046 A>G), RS1000661319 (6:34880760 C>T), RS1000745738 (6:34888371 T>A), RS1000798456 (6:34881201 G>T), RS1000837518 (6:34889213 C>A,G,T), RS1001188688 (6:34887517 C>A,T), RS1001304935 (6:34879702 G>A,T), RS1001345252 (6:34888040 C>G,T), RS1001393908 (6:34887001 C>A), RS1001662487 (6:34880750 G>A), RS1001963340 (6:34882667 A>C,T), RS1002161014 (6:34889225 G>A), RS1002198747 (6:34888835 TC>T)

Disease associations

OMIM: gene MIM:600772 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST012227_961	Hip circumference adjusted for BMI	6.000000e-11
GCST90020029_1548	Waist circumference adjusted for body mass index	8.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523300 (SINGLE PROTEIN)

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).

pChembl	Type	Value	Unit	Molecule
9.00	Kd	1	nM	CHEMBL4463538

PubChem BioAssay actives

1 with measured affinity, of 1 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.

Compound	Assay	Type	Value	Unit
6-but-3-enyl-4-[1-methyl-6-(morpholine-4-carbonyl)benzimidazol-4-yl]-1H-pyrrolo[2,3-c]pyridin-7-one	1513944: Binding affinity to recombinant human full length DNA-tagged TAF11D bromodomain 2 (1523 to 1654 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0010	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
bisphenol A	decreases expression	1
nickel chloride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4310235	Binding	Binding affinity to recombinant human full length DNA-tagged TAF11D bromodomain 2 (1523 to 1654 residues) expressed in bacterial expression system by bromoscan assay	GNE-371, a Potent and Selective Chemical Probe for the Second Bromodomains of Human Transcription-Initiation-Factor TFIID Subunit 1 and Transcription-Initiation-Factor TFIID Subunit 1-like. — J Med Chem

Cellosaurus cell lines

9 cell lines: 5 finite cell line, 3 embryonic stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A6X2	SEES3-1V human TAF11, clone1	Embryonic stem cell	Male
CVCL_A6X3	SEES3-1V human TAF11, clone2	Embryonic stem cell	Male
CVCL_A6X4	SEES3-1V human TAF11, clone3	Embryonic stem cell	Male
CVCL_B2I2	Abcam HeLa TAF11 KO	Cancer cell line	Female
CVCL_VV65	GM27367	Finite cell line	Female
CVCL_VV66	GM27368	Finite cell line	Female
CVCL_VV67	GM27369	Finite cell line	Male
CVCL_VV68	GM27370	Finite cell line	Female
CVCL_VV69	GM27371	Finite cell line	Male

Clinical trials (associated diseases)

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