TAF10

Summary

TAF10 (TATA-box binding protein associated factor 10, HGNC:11543) is a protein-coding gene on chromosome 11p15.4, encoding Transcription initiation factor TFIID subunit 10 (Q12962). The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. It is a selective cancer dependency (DepMap: 79.0% of cell lines).

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 small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs.

Source: NCBI Gene 6881 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 198 total
• Cancer dependency (DepMap): dependent in 79.0% of screened cell lines
• MANE Select transcript: NM_006284

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11543
Approved symbol	TAF10
Name	TATA-box binding protein associated factor 10
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	TAFII30
Ensembl gene	ENSG00000166337
Ensembl biotype	protein_coding
OMIM	600475
Entrez	6881

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000299424, ENST00000527248, ENST00000531760, ENST00000532344, ENST00000616342, ENST00000693612

RefSeq mRNA: 1 — MANE Select: NM_006284 NM_006284

CCDS: CCDS7769

Canonical transcript exons

ENST00000299424 — 5 exons

Exon	Start	End
ENSE00001102217	6606294	6611011
ENSE00001128313	6611958	6612216
ENSE00003526507	6611388	6611452
ENSE00003597083	6611189	6611303
ENSE00003691008	6611664	6611818

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 99.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 160.4094 / max 1432.2469, expressed in 1827 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118438	159.8347	1827
118437	0.3304	130
118440	0.2020	65
118439	0.0423	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.45	gold quality
left testis	UBERON:0004533	99.43	gold quality
granulocyte	CL:0000094	99.00	gold quality
lower esophagus mucosa	UBERON:0035834	98.98	gold quality
adenohypophysis	UBERON:0002196	98.80	gold quality
left adrenal gland cortex	UBERON:0035825	98.75	gold quality
right adrenal gland	UBERON:0001233	98.73	gold quality
left adrenal gland	UBERON:0001234	98.72	gold quality
right adrenal gland cortex	UBERON:0035827	98.66	gold quality
mucosa of transverse colon	UBERON:0004991	98.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.52	gold quality
body of pancreas	UBERON:0001150	98.51	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.45	gold quality
body of stomach	UBERON:0001161	98.42	gold quality
apex of heart	UBERON:0002098	98.38	gold quality
right lobe of thyroid gland	UBERON:0001119	98.07	gold quality
stromal cell of endometrium	CL:0002255	98.05	gold quality
right lobe of liver	UBERON:0001114	98.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.03	gold quality
right atrium auricular region	UBERON:0006631	98.01	gold quality
left lobe of thyroid gland	UBERON:0001120	97.98	gold quality
metanephros cortex	UBERON:0010533	97.94	gold quality
leukocyte	CL:0000738	97.87	gold quality
left uterine tube	UBERON:0001303	97.83	gold quality
right lung	UBERON:0002167	97.83	gold quality
bone marrow cell	CL:0002092	97.80	gold quality
monocyte	CL:0000576	97.76	gold quality
vermiform appendix	UBERON:0001154	97.76	gold quality
minor salivary gland	UBERON:0001830	97.64	gold quality
upper lobe of left lung	UBERON:0008952	97.56	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	10322.32
E-ANND-3	yes	7.42
E-HCAD-13	yes	7.10

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TBP

miRNA regulators (miRDB)

13 targeting TAF10, 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-570-3P	99.96	72.41	4910
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-214-5P	97.34	66.50	617
HSA-MIR-4652-5P	96.46	64.22	553

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 79.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• TAF10 can be monomethylated by SET9-mediated methylation. (PMID:15099517)
• novel role of three mammalian interacting partners in the nuclear localization of TAF10 (PMID:15870280)
• TAFII30 was required for optimal P4 promoter activity and for the repressive association of estrogen receptor. (PMID:17599049)
• CDKN1C negatively regulates RNA polymerase II C-terminal domain phosphorylation in an E2F1-dependent manner (PMID:20106982)
• The carboxyl-terminal domain of the largest subunit of RNA polymerase II (pol II) comprises multiple tandem repeats of a heptapeptide. (PMID:20457598)
• the TAF2-TAF8-TAF10 complex demonstrates that there is a stepwise assembly pathway of nuclear holo-TFIID, regulated by nuclear import of preformed cytoplasmic submodules (PMID:25586196)
• Lysine oxidation of the transcription factor TAF10 by LOXL2 is a controlled protein modification and demonstrates a role for protein oxidation in regulating pluripotency genes. (PMID:25959397)
• Small molecule Z363 co-regulates TAF10 and MYC via the E3 ligase TRIP12 to suppress tumour growth. (PMID:36639831)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf10	ENSDARG00000068641
mus_musculus	Taf10	ENSMUSG00000043866
rattus_norvegicus	Taf10	ENSRNOG00000019178
drosophila_melanogaster	Taf10b	FBGN0026324
drosophila_melanogaster	Taf10	FBGN0028398
caenorhabditis_elegans		WBGENE00006392

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 10 — Q12962 (reviewed: Q12962)

Alternative names: STAF28, Transcription initiation factor TFIID 30 kDa subunit

All UniProt accessions (3): A0A087WWP5, A0A8I5KQU8, Q12962

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. TAF10 is also component of the PCAF histone acetylase complex, the TATA-binding protein-free TAF complex (TFTC) and the STAGA transcription coactivator-HAT complex. May regulate cyclin E expression.

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, TADA3L/ADA3, SUPT3H, TAF5L TAF6L, TAF9, TAF10, TAF12 and TRRAP. The TFTC-HAT complex consists at least of TAF5L, TAF6L, TADA3L, SUPT3H, TAF2, TAF4, TAF5, GCN5L2/GCN5, TAF10 and TRRAP. The STAGA transcription coactivator-HAT complex consists at least of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with TAF3. Interacts with LOXL2. Interacts with TAF12 isoform TAFII20; the interaction is direct.

Subcellular location. Nucleus.

Post-translational modifications. Monomethylated at Lys-189 by SETD7, leading to increased affinity for RNA polymerase II. Lysine deamination at Lys-189 to form allysine is mediated by LOXL2. Allysine formation by LOXL2 results in release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription.

Domain organisation. The [KR]-[STA]-K motif is specifically recognized by the SETD7 methyltransferase.

Similarity. Belongs to the TAF10 family.

RefSeq proteins (1): NP_006275* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003923	TAF10	Family

Pfam: PF03540

UniProt features (21 total): helix 6, modified residue 5, compositionally biased region 3, initiator methionine 1, chain 1, sequence variant 1, mutagenesis site 1, region of interest 1, strand 1, short sequence motif 1

Structure

Experimental structures (PDB)

48 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2F69	X-RAY DIFFRACTION	1.3
3M58	X-RAY DIFFRACTION	1.4
3M55	X-RAY DIFFRACTION	1.55
5EG2	X-RAY DIFFRACTION	1.55
4J7F	X-RAY DIFFRACTION	1.59
3M54	X-RAY DIFFRACTION	1.6
4J8O	X-RAY DIFFRACTION	1.63
3M56	X-RAY DIFFRACTION	1.65
3M57	X-RAY DIFFRACTION	1.7
3M59	X-RAY DIFFRACTION	1.7
4J83	X-RAY DIFFRACTION	1.7
3M5A	X-RAY DIFFRACTION	1.75
3M53	X-RAY DIFFRACTION	1.85
4WV4	X-RAY DIFFRACTION	1.91
9RDK	ELECTRON MICROSCOPY	2.41
4J7I	X-RAY DIFFRACTION	2.56
7EGG	ELECTRON MICROSCOPY	2.77
7KTR	ELECTRON MICROSCOPY	2.93
7EGF	ELECTRON MICROSCOPY	3.16
7EGB	ELECTRON MICROSCOPY	3.3
7EG9	ELECTRON MICROSCOPY	3.7
8H7G	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
6MZC	ELECTRON MICROSCOPY	4.5
7EDX	ELECTRON MICROSCOPY	4.5
8GXQ	ELECTRON MICROSCOPY	5.04

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12962-F1	69.74	0.37

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 (5): 189, 189, 2, 44, 48

Mutagenesis-validated functional residues (1):

Position	Phenotype
189	abolishes methylation. does not affect interaction with loxl2 but greatly reduces deamination by loxl2.

Function

Pathways and Gene Ontology

Reactome pathways

27 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-3214847	HATs acetylate histones
R-HSA-5689880	Ub-specific processing proteases
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
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-3247509	Chromatin modifying enzymes
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-392499	Metabolism of proteins
R-HSA-4839726	Chromatin organization
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5663205	Infectious disease
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 240 (showing top): GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, YAATNRNNNYNATT_UNKNOWN, NAGY_STAGA_COMPONENTS_HUMAN, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, KYNG_DNA_DAMAGE_DN, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_LATERAL_MESODERM_DEVELOPMENT, GOBP_EMBRYONIC_PLACENTA_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, REACTOME_HIV_INFECTION

GO Biological Process (27): G1/S transition of mitotic cell cycle (GO:0000082), somitogenesis (GO:0001756), embryonic placenta development (GO:0001892), regulation of DNA repair (GO:0006282), chromatin remodeling (GO:0006338), DNA-templated transcription initiation (GO:0006352), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367), apoptotic process (GO:0006915), multicellular organism growth (GO:0035264), SAGA complex assembly (GO:0036285), mRNA transcription by RNA polymerase II (GO:0042789), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), lateral mesodermal cell differentiation (GO:0048371), RNA polymerase II preinitiation complex assembly (GO:0051123), limb development (GO:0060173), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), hepatocyte differentiation (GO:0070365), allantois development (GO:1905069), in utero embryonic development (GO:0001701), liver development (GO:0001889), gene expression (GO:0010467), regulation of gene expression (GO:0010468), protein-containing complex assembly (GO:0065003)

GO Molecular Function (9): DNA binding (GO:0003677), RNA polymerase II general transcription initiation factor activity (GO:0016251), enzyme binding (GO:0019899), nuclear estrogen receptor binding (GO:0030331), identical protein binding (GO:0042802), RNA polymerase binding (GO:0070063), promoter-specific chromatin binding (GO:1990841), histone acetyltransferase activity (GO:0004402), protein binding (GO:0005515)

GO Cellular Component (9): SAGA complex (GO:0000124), male germ cell nucleus (GO:0001673), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), cytoplasm (GO:0005737), transcription factor TFTC complex (GO:0033276), perinuclear region of cytoplasm (GO:0048471), transcription preinitiation complex (GO:0097550)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RNA Polymerase II Transcription	4
Transcription of the HIV genome	2
RNA Polymerase II Transcription Initiation And Promoter Clearance	2
Late Phase of HIV Life Cycle	1
Chromatin modifying enzymes	1
Deubiquitination	1
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Chromatin organization	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	4
transcription by RNA polymerase II	4
cellular anatomical structure	3
regulation of gene expression	2
regulation of DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
protein binding	2
SAGA-type complex	2
RNA polymerase II, holoenzyme	2
RNA polymerase II transcription regulator complex	2
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G1/S phase transition	1
anterior/posterior pattern specification	1
segmentation	1
chordate embryonic development	1
anatomical structure formation involved in morphogenesis	1
somite development	1
in utero embryonic development	1
placenta development	1
embryonic organ development	1
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
chromatin organization	1
RNA biosynthetic process	1
regulation of RNA biosynthetic process	1
DNA-templated transcription initiation	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
multicellular organismal process	1
developmental growth	1
protein-containing complex assembly	1
mRNA transcription	1
RNA splicing	1
regulation of primary metabolic process	1
positive regulation of RNA biosynthetic process	1
mesodermal cell differentiation	1
lateral mesoderm formation	1

Protein interactions and networks

STRING

1652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF10	TAF12	Q16514	998
TAF10	TAF6	P49848	998
TAF10	TAF8	Q7Z7C8	998
TAF10	TAF5	Q15542	997
TAF10	TAF9	Q16594	997
TAF10	TAF11	Q15544	968
TAF10	TAF3	Q5VWG9	959
TAF10	TAF13	Q15543	955
TAF10	TAF1	P21675	950
TAF10	TBP	P20226	935
TAF10	SUPT7L	O94864	925
TAF10	TAF4	O00268	919
TAF10	TAF2	Q6P1X5	878
TAF10	TAF5L	O75529	875
TAF10	TAF7	Q15545	869

IntAct

97 interactions, top by confidence:

A	B	Type	Score
TAF10	TBP	psi-mi:“MI:0914”(association)	0.840
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TAF8	TAF10	psi-mi:“MI:0407”(direct interaction)	0.750
TAF8	TAF10	psi-mi:“MI:0915”(physical association)	0.750
TRRAP	ATXN7	psi-mi:“MI:0914”(association)	0.740
TBP	TAF4	psi-mi:“MI:0914”(association)	0.730
TAF12	TAF4	psi-mi:“MI:0915”(physical association)	0.720
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ATXN7	TAF10	psi-mi:“MI:0914”(association)	0.690
ATXN7	TAF10	psi-mi:“MI:0915”(physical association)	0.690
TAF10	ATXN7	psi-mi:“MI:0915”(physical association)	0.690
TAF10	TAF4	psi-mi:“MI:0914”(association)	0.650
TAF10	TAF4	psi-mi:“MI:0915”(physical association)	0.650

BioGRID (253): TAF10 (Protein-peptide), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Co-fractionation), TAF10 (Co-fractionation), TAF10 (Co-fractionation), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TAF10 (Affinity Capture-MS)

ESM2 similar proteins: A0JPP1, A1A4I4, A1A5B6, A4K436, A6QQ14, A6QQ47, C5IJB0, E1BSW7, O00459, O04173, O08908, O14908, O35465, P23726, P70268, Q12962, Q14318, Q14657, Q14919, Q16512, Q17QX2, Q1JQD7, Q32NY4, Q3B7U9, Q3MII6, Q3V1H9, Q496Y0, Q4R4E4, Q5C9Z4, Q5RE34, Q5XIU9, Q5ZIW1, Q63433, Q63788, Q6K461, Q6PZ03, Q6ZT62, Q7Z6J2, Q8CFK2, Q8HXH0

Diamond homologs: O04173, O60171, Q12030, Q12962, Q8K0H5, Q95ZS0, Q9U5W9, Q9XZT7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TAF10	“form complex”	TFIID	binding
TAF10	“form complex”	“SAGA complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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	8	45.5×	2e-10
RNA Polymerase II HIV Promoter Escape	8	45.5×	2e-10
RNA Polymerase II Promoter Escape	8	45.5×	2e-10
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	8	45.5×	2e-10
RNA Polymerase II Transcription Initiation	8	45.5×	2e-10
RNA Polymerase II Transcription Initiation And Promoter Clearance	8	45.5×	2e-10
Transcription of the HIV genome	8	33.8×	2e-09
Formation of WDR5-containing histone-modifying complexes	5	32.4×	8e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	16	81.9×	7e-25
regulation of cell division	5	70.9×	3e-07
regulation of RNA splicing	15	60.8×	2e-21
RNA polymerase II preinitiation complex assembly	11	55.4×	5e-15
positive regulation of transcription initiation by RNA polymerase II	9	45.3×	2e-11
transcription initiation at RNA polymerase II promoter	6	41.6×	3e-07
mRNA transcription by RNA polymerase II	6	36.7×	4e-07
regulation of embryonic development	5	30.6×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	68
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1849 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6608072:ACT:A	acceptor_gain	1.0000
11:6608072:ACTG:A	acceptor_gain	1.0000
11:6608374:T:A	acceptor_gain	1.0000
11:6608378:T:TA	acceptor_gain	1.0000
11:6608379:G:A	acceptor_gain	1.0000
11:6608383:A:AG	acceptor_gain	1.0000
11:6608383:AT:A	acceptor_gain	1.0000
11:6608383:ATG:A	acceptor_gain	1.0000
11:6608383:ATGG:A	acceptor_gain	1.0000
11:6608383:ATGGG:A	acceptor_gain	1.0000
11:6608384:T:G	acceptor_gain	1.0000
11:6608384:T:TA	acceptor_gain	1.0000
11:6608385:G:A	acceptor_gain	1.0000
11:6608393:GCT:G	acceptor_gain	1.0000
11:6608487:GAG:G	donor_gain	1.0000
11:6608488:AG:A	donor_gain	1.0000
11:6608489:GG:G	donor_gain	1.0000
11:6608490:G:C	donor_loss	1.0000
11:6608490:G:GG	donor_gain	1.0000
11:6608963:GCCCC:G	donor_gain	1.0000
11:6608965:CCCG:C	donor_loss	1.0000
11:6608966:CC:C	donor_gain	1.0000
11:6608966:CCGT:C	donor_loss	1.0000
11:6608967:CGTGA:C	donor_loss	1.0000
11:6608968:G:GG	donor_gain	1.0000
11:6608968:GTGAG:G	donor_loss	1.0000
11:6608969:T:G	donor_loss	1.0000
11:6608970:G:GG	donor_loss	1.0000
11:6608993:G:T	donor_gain	1.0000
11:6609640:GTGA:G	donor_gain	1.0000

AlphaMissense

1385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6610968:A:G	L204P	1.000
11:6610968:A:T	L204H	1.000
11:6610971:G:T	A203D	1.000
11:6610980:A:C	L200W	1.000
11:6610980:A:G	L200S	1.000
11:6610995:A:G	L195P	1.000
11:6610995:A:T	L195Q	1.000
11:6611231:T:A	K175N	1.000
11:6611231:T:G	K175N	1.000
11:6611244:A:G	L171P	1.000
11:6611247:G:T	A170D	1.000
11:6611248:C:G	A170P	1.000
11:6611256:G:T	A167D	1.000
11:6611257:C:G	A167P	1.000
11:6611266:A:G	S164P	1.000
11:6611270:G:C	F162L	1.000
11:6611270:G:T	F162L	1.000
11:6611271:A:G	F162S	1.000
11:6611272:A:G	F162L	1.000
11:6611274:T:A	K161I	1.000
11:6611275:T:C	K161E	1.000
11:6611280:G:T	A159D	1.000
11:6611281:C:G	A159P	1.000
11:6611283:G:T	A158D	1.000
11:6611286:A:G	L157S	1.000
11:6611289:G:A	S156F	1.000
11:6611289:G:T	S156Y	1.000
11:6611290:A:G	S156P	1.000
11:6611295:A:G	L154P	1.000
11:6611412:C:T	G143D	1.000

dbSNP variants (sampled 300 via entrez): RS1000443308 (11:6607580 C>A,G,T), RS1000448284 (11:6612990 C>G,T), RS1000719227 (11:6613562 A>T), RS1001645031 (11:6607961 G>C,T), RS1001718645 (11:6608272 A>C), RS1002721805 (11:6609741 A>G), RS1003404417 (11:6611182 C>CT), RS1003732256 (11:6611105 G>A,C), RS1003900254 (11:6606731 A>G), RS1004007208 (11:6607211 C>T), RS1004333669 (11:6612873 T>G), RS1004451081 (11:6613142 T>C), RS1004850525 (11:6608303 C>A,G), RS1005091366 (11:6613369 A>G), RS1005457378 (11:6611120 A>G)

Disease associations

OMIM: gene MIM:600475 | disease phenotypes: MIM:192600

GenCC curated gene-disease

Mondo (2): familial hypertrophic cardiomyopathy (MONDO:0024573), cardiomyopathy (MONDO:0004994)

Orphanet (3): Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Rare cardiomyopathy (Orphanet:167848), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	increases expression	3
Benzo(a)pyrene	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cadmium acetate	increases expression	1
tamibarotene	increases expression	1
CGP 52608	affects binding, increases reaction	1
pinostrobin	increases expression	1
ICG 001	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Selenium	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6W9	SEES3-1V human TAF10, clone1	Embryonic stem cell	Male
CVCL_A6X0	SEES3-1V human TAF10, clone2	Embryonic stem cell	Male
CVCL_A6X1	SEES3-1V human TAF10, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	PHASE2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	PHASE2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy