TAF12

Summary

TAF12 (TATA-box binding protein associated factor 12, HGNC:11545) is a protein-coding gene on chromosome 1p35.3, encoding Transcription initiation factor TFIID subunit 12 (Q16514). 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: 73.1% of cell lines).

Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 6883 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 24 total
• Cancer dependency (DepMap): dependent in 73.1% of screened cell lines
• MANE Select transcript: NM_005644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11545
Approved symbol	TAF12
Name	TATA-box binding protein associated factor 12
Location	1p35.3
Locus type	gene with protein product
Status	Approved
Aliases	TAFII20
Ensembl gene	ENSG00000120656
Ensembl biotype	protein_coding
OMIM	600773
Entrez	6883

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 26 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000263974, ENST00000373824, ENST00000471683, ENST00000495422, ENST00000685312, ENST00000685589, ENST00000688108, ENST00000688425, ENST00000688548, ENST00000689843, ENST00000690492, ENST00000690860, ENST00000691050, ENST00000691563, ENST00000692098, ENST00000693642, ENST00000693729, ENST00000857941, ENST00000857942, ENST00000857943, ENST00000857944, ENST00000857945, ENST00000857946, ENST00000857947, ENST00000857948, ENST00000938953, ENST00000951744, ENST00000951745, ENST00000951746, ENST00000951747

RefSeq mRNA: 3 — MANE Select: NM_005644 NM_001135218, NM_001410769, NM_005644

CCDS: CCDS326, CCDS90896

Canonical transcript exons

ENST00000373824 — 6 exons

Exon	Start	End
ENSE00001815287	28642992	28643067
ENSE00001842420	28602850	28603574
ENSE00003483270	28605372	28605460
ENSE00003622877	28613247	28613361
ENSE00003652543	28621914	28622165
ENSE00003688175	28617953	28618030

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 94.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.5611 / max 180.3281, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11361	27.5643	1816
11362	0.9967	726

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.34	gold quality
monocyte	CL:0000576	91.76	gold quality
leukocyte	CL:0000738	91.33	gold quality
mononuclear cell	CL:0000842	91.27	gold quality
gastrocnemius	UBERON:0001388	91.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.96	gold quality
calcaneal tendon	UBERON:0003701	90.83	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.83	gold quality
muscle of leg	UBERON:0001383	90.81	gold quality
granulocyte	CL:0000094	90.10	gold quality
apex of heart	UBERON:0002098	89.65	gold quality
right testis	UBERON:0004534	89.45	gold quality
left testis	UBERON:0004533	89.17	gold quality
heart left ventricle	UBERON:0002084	88.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.82	gold quality
islet of Langerhans	UBERON:0000006	88.75	gold quality
cardiac ventricle	UBERON:0002082	88.74	gold quality
testis	UBERON:0000473	88.70	gold quality
stromal cell of endometrium	CL:0002255	88.44	gold quality
blood	UBERON:0000178	88.43	gold quality
right atrium auricular region	UBERON:0006631	88.23	gold quality
skeletal muscle organ	UBERON:0014892	88.19	gold quality
muscle organ	UBERON:0001630	88.18	gold quality
endocervix	UBERON:0000458	88.15	gold quality
body of pancreas	UBERON:0001150	88.05	gold quality
ectocervix	UBERON:0012249	87.98	gold quality
lymph node	UBERON:0000029	87.64	gold quality
heart	UBERON:0000948	87.62	gold quality
tendon	UBERON:0000043	87.60	gold quality
skin of abdomen	UBERON:0001416	87.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ATF7	Activation

Upstream regulators (CollecTRI, top): ATF7, ETS1, TBP

miRNA regulators (miRDB)

70 targeting TAF12, 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-4668-3P	100.00	68.74	2635
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-516B-5P	99.56	66.33	1495

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 73.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Data present the crystal structure of a complex formed by the interacting domains from two subunits of the general transcription factor TFIID, the human TATA binding protein-associated factors hTAF4 (hTAF(II)135) and hTAF12 (hTAF(II)20). (PMID:12237304)
• 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)
• TAF12 hitherto regarded as RNA polymerase II (RNAP II)-specific was found to be also involved in RNAP I transcription. (PMID:17268553)
• Findings suggest that DNA binding by TAF4/4b-TAF12 facilitates the association of TFIID with the core promoter of a subset of genes. (PMID:19635797)
• ATF7 interacts with TAF12 and contributes to the hypersensitivity of OCL precursors to 1,25-(OH)D in PD. (PMID:23426901)
• TAF12 and NFYC are transcription factors that regulate the epigenome, whereas RAD54L plays a central role in DNA repair (PMID:25965574)
• We show that two genes, TDP1, a tyrosyl-DNA-phosphdiesterase, and TAF12, an RNA polymerase II TATA-box binding factor, cause CIN when overexpressed in human cells. Using SDL screens in yeast, we identified a set of genes that when deleted specifically kill cells with high levels of Tdp1 (PMID:27551064)
• Ectopic expression of the TAF4 histone-fold fragment can efficiently squelch TAF12 in cells (PMID:29316427)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf12	ENSDARG00000104030
mus_musculus	Taf12	ENSMUSG00000028899
rattus_norvegicus	Taf12	ENSRNOG00000048288
drosophila_melanogaster	Taf12	FBGN0011290
caenorhabditis_elegans		WBGENE00006396

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 12 — Q16514 (reviewed: Q16514)

Alternative names: Transcription initiation factor TFIID 20/15 kDa subunits

All UniProt accessions (11): A0A804HLG9, A0A8I5KP17, A0A8I5KPH6, A0A8I5KTB6, A0A8I5KU09, A0A8I5KWX5, A0A8I5KXE7, A0A8I5KYJ9, A0A8I5KYW6, A0A8I5QKX2, Q16514

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. Component of the TATA-binding protein-free TAF complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex.

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. Component of the PCAF complex, at least composed of TADA2L/ADA2, TADA3L/ADA3, TAF5L/PAF65-beta, SUPT3H, TAF6L, TAF9, TAF10, TAF12 and TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, STAF65-gamma/SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. Interacts with ATF7 (via the transactivation domain); the interaction is prevented by sumoylation of ATF7. Interacts with TBP; the interaction is direct. Interacts with TAF10; the interaction is direct. Interacts with ATF7, promoting transactivation by ATF7. Does not promote the transactivation of ATF7.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the TAF12 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q16514-1	TAFII20	yes
Q16514-2	TAFII15

RefSeq proteins (3): NP_001128690, NP_001397698, NP_005635* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003228	TFIID_TAF12_dom	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR037794	TAF12	Family

Pfam: PF03847

UniProt features (19 total): helix 4, mutagenesis site 3, strand 3, modified residue 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

34 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
1H3O	X-RAY DIFFRACTION	2.3
9RDK	ELECTRON MICROSCOPY	2.41
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
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
6MZM	ELECTRON MICROSCOPY	7.5
8WAL	ELECTRON MICROSCOPY	8.52
7EGJ	ELECTRON MICROSCOPY	8.64
7EGE	ELECTRON MICROSCOPY	9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16514-F1	77.74	0.54

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 (4): 43, 51, 59, 19

Mutagenesis-validated functional residues (3):

Position	Phenotype
95–96	drastically reduces binding to taf4.
99–103	drastically reduces binding to taf4.
87–91	drastically reduces binding to taf4.

Function

Pathways and Gene Ontology

Reactome pathways

23 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-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-4839726	Chromatin organization
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: 228 (showing top): BORCZUK_MALIGNANT_MESOTHELIOMA_UP, NAGY_STAGA_COMPONENTS_HUMAN, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_REGULATION_OF_DNA_REPAIR, REACTOME_HIV_INFECTION, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, ROZANOV_MMP14_TARGETS_UP, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING, GOBP_DNA_DAMAGE_RESPONSE, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, PID_MYC_PATHWAY, GOBP_MRNA_TRANSCRIPTION

GO Biological Process (12): regulation of DNA repair (GO:0006282), 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), mRNA transcription by RNA polymerase II (GO:0042789), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (7): DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), TBP-class protein binding (GO:0017025), protein heterodimerization activity (GO:0046982), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), RNA polymerase II general transcription initiation factor activity (GO:0016251)

GO Cellular Component (5): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), transcription factor TFTC complex (GO:0033276)

Reactome top-level categories

Rollup of top-13 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
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Chromatin organization	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	5
DNA-templated transcription	4
regulation of gene expression	2
regulation of DNA-templated transcription	2
positive regulation of DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
SAGA-type complex	2
RNA polymerase II, holoenzyme	2
RNA polymerase II transcription regulator complex	2
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
RNA biosynthetic process	1
regulation of RNA biosynthetic process	1
DNA-templated transcription initiation	1
mRNA transcription	1
RNA splicing	1
regulation of primary metabolic process	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	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
nucleic acid binding	1
transcription coregulator activity	1
general transcription initiation factor binding	1
protein dimerization activity	1
transcription factor binding	1
binding	1
general transcription initiation factor activity	1
DUBm complex	1
peptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF12	TAF6	P49848	999
TAF12	TAF9	Q16594	999
TAF12	TAF10	Q12962	998
TAF12	TAF5	Q15542	998
TAF12	TAF4	O00268	997
TAF12	TAF11	Q15544	976
TAF12	TAF8	Q7Z7C8	967
TAF12	TAF1	P21675	946
TAF12	TAF7	Q15545	946
TAF12	TBP	P20226	934
TAF12	TAF2	Q6P1X5	866
TAF12	TAF5L	O75529	816
TAF12	SGF29	Q96ES7	792
TAF12	TADA3	O75528	790
TAF12	GTF2B	Q00403	788
TAF12	TAF6L	Q9Y6J9	788

IntAct

91 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
TAF12	TBP	psi-mi:“MI:0915”(physical association)	0.800
TAF12	TAF4	psi-mi:“MI:0407”(direct interaction)	0.760
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
KIF22	KPNA4	psi-mi:“MI:0914”(association)	0.730
TBP	TAF4	psi-mi:“MI:0914”(association)	0.730
TAF10	TAF4	psi-mi:“MI:0914”(association)	0.650
TAF10	TAF4	psi-mi:“MI:0915”(physical association)	0.650
TBP	TAF7	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
Smc3	RAD21	psi-mi:“MI:0914”(association)	0.600
TAF12	PRKAR2B	psi-mi:“MI:0915”(physical association)	0.560
PRKAR2B	TAF12	psi-mi:“MI:0915”(physical association)	0.560
VASN	AP3B1	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
SUPT20H	ATXN7	psi-mi:“MI:0914”(association)	0.530
TAF8	TAF4	psi-mi:“MI:0914”(association)	0.530
TAF6L	SUPT3H	psi-mi:“MI:0914”(association)	0.530
TADA2B	SUPT3H	psi-mi:“MI:0914”(association)	0.530
TAF12	TAF1C	psi-mi:“MI:0915”(physical association)	0.520

BioGRID (220): TAF12 (Two-hybrid), TAF12 (Protein-peptide), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TBP (Affinity Capture-Western), TBP (Reconstituted Complex), TAF12 (Reconstituted Complex), TAF12 (Proximity Label-MS), TAF12 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C0TYJ0, A2AWA9, A2VDZ9, A5GFS8, O70133, O76031, O88506, O95292, O95747, Q08E27, Q0VCY1, Q12959, Q13330, Q15691, Q16514, Q3T174, Q3ZBD9, Q5PYH5, Q5R495, Q5R601, Q5R6Y5, Q5R7N3, Q5R7Z5, Q5U2U0, Q5ZHN3, Q5ZIL4, Q61166, Q61187, Q62599, Q62696, Q66HR2, Q68FK8, Q6AY57, Q6IRE4, Q6ZVM7, Q7ZWU5, Q80W47, Q811D0, Q863I2, Q8K4B0

Diamond homologs: B2C6R6, O13722, P49905, Q03761, Q16514, Q3T174, Q555L9, Q8VE65, Q91858, Q940A7, Q9SR71, Q9U226

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TAF12	“form complex”	TFIID	binding
TAF12	“form complex”	“SAGA complex”	binding
TAF12	“up-regulates activity”	ATF7	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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	7	23.6×	8e-07
RNA Polymerase II HIV Promoter Escape	7	23.6×	8e-07
RNA Polymerase II Promoter Escape	7	23.6×	8e-07
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	7	23.6×	8e-07
RNA Polymerase II Transcription Initiation	7	23.6×	8e-07
RNA Polymerase II Transcription Initiation And Promoter Clearance	7	23.6×	8e-07
Transcription of the HIV genome	7	17.6×	5e-06
HIV Life Cycle	7	16.3×	7e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	12	39.0×	5e-14
regulation of RNA splicing	13	33.5×	5e-14
RNA polymerase II preinitiation complex assembly	9	28.8×	5e-09
transcription initiation at RNA polymerase II promoter	6	26.4×	8e-06
positive regulation of transcription initiation by RNA polymerase II	8	25.6×	1e-07
mRNA transcription by RNA polymerase II	6	23.3×	2e-05
transcription by RNA polymerase II	13	10.8×	3e-08
mRNA splicing, via spliceosome	8	8.6×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1458 predictions. Top by Δscore:

Variant	Effect	Δscore
1:28593693:GGT:G	acceptor_gain	1.0000
1:28593693:GGTGC:G	acceptor_gain	1.0000
1:28603571:TTCT:T	acceptor_gain	1.0000
1:28603573:CT:C	acceptor_gain	1.0000
1:28605367:CTCA:C	donor_loss	1.0000
1:28605368:TCACC:T	donor_loss	1.0000
1:28605369:CAC:C	donor_loss	1.0000
1:28605371:C:CA	donor_loss	1.0000
1:28613245:A:AC	donor_gain	1.0000
1:28613246:C:CA	donor_loss	1.0000
1:28613246:C:CC	donor_gain	1.0000
1:28613361:TCTGG:T	acceptor_loss	1.0000
1:28613362:C:CG	acceptor_loss	1.0000
1:28613363:T:C	acceptor_loss	1.0000
1:28622162:TTAA:T	acceptor_gain	1.0000
1:28622166:C:CC	acceptor_gain	1.0000
1:28592741:TCAG:T	donor_loss	0.9900
1:28592742:CAG:C	donor_loss	0.9900
1:28592743:AGGT:A	donor_loss	0.9900
1:28592744:GGTG:G	donor_loss	0.9900
1:28592745:GTGCG:G	donor_loss	0.9900
1:28593689:CCCA:C	acceptor_loss	0.9900
1:28593690:CCAG:C	acceptor_loss	0.9900
1:28593692:A:AG	acceptor_gain	0.9900
1:28593692:AG:A	acceptor_gain	0.9900
1:28593693:G:GA	acceptor_gain	0.9900
1:28593693:G:GT	acceptor_loss	0.9900
1:28593693:GG:G	acceptor_gain	0.9900
1:28603571:TTCTC:T	acceptor_loss	0.9900
1:28603572:TCTC:T	acceptor_loss	0.9900

AlphaMissense

1056 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:28603558:C:G	R156P	1.000
1:28603561:A:C	I155S	1.000
1:28603561:A:G	I155T	1.000
1:28603561:A:T	I155N	1.000
1:28603568:C:G	A153P	1.000
1:28603572:T:A	R151S	1.000
1:28603572:T:G	R151S	1.000
1:28603573:C:A	R151I	1.000
1:28603573:C:G	R151T	1.000
1:28605380:G:C	H148D	1.000
1:28605382:G:T	A147D	1.000
1:28605402:T:A	K140N	1.000
1:28605402:T:G	K140N	1.000
1:28605433:C:T	G130E	1.000
1:28605434:C:G	G130R	1.000
1:28605434:C:T	G130R	1.000
1:28605452:A:G	W124R	1.000
1:28605452:A:T	W124R	1.000
1:28605457:C:G	R122P	1.000
1:28613249:A:G	L120S	1.000
1:28613255:A:G	L118P	1.000
1:28613261:A:T	V116D	1.000
1:28613264:T:A	D115V	1.000
1:28613264:T:C	D115G	1.000
1:28613264:T:G	D115A	1.000
1:28613265:C:A	D115Y	1.000
1:28613265:C:G	D115H	1.000
1:28613265:C:T	D115N	1.000
1:28613276:A:T	L111Q	1.000
1:28613291:C:A	R106L	1.000

dbSNP variants (sampled 300 via entrez): RS1000005309 (1:28624736 G>A), RS1000048806 (1:28631049 A>C,G), RS1000054016 (1:28630870 C>G,T), RS1000247583 (1:28613987 C>G), RS1000371673 (1:28647701 C>A,T), RS1000425411 (1:28647480 G>A,T), RS1000454110 (1:28607658 C>A,T), RS1000465216 (1:28648516 A>G,T), RS1000530019 (1:28629652 T>C), RS1000684194 (1:28635032 G>A), RS1000700119 (1:28641208 G>A), RS1000740957 (1:28620765 G>A,C), RS1000756060 (1:28635579 A>G), RS1000764557 (1:28642480 C>T), RS1000810900 (1:28637980 A>G)

Disease associations

OMIM: gene MIM:600773 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008114_15	Type 2 diabetes	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenite	increases expression	1
manganese chloride	increases abundance, increases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
4-hydroxy-equilenin	decreases expression	1
2-palmitoylglycerol	increases expression	1
(+)-JQ1 compound	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Coumestrol	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	increases abundance, increases expression	1
Ozone	affects expression, increases abundance	1
Tetrachlorodibenzodioxin	increases expression	1
Dronabinol	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A6X5	SEES3-1V human TAF12, clone1	Embryonic stem cell	Male
CVCL_A6X6	SEES3-1V human TAF12, clone2	Embryonic stem cell	Male
CVCL_A6X7	SEES3-1V human TAF12, clone3	Embryonic stem cell	Male
CVCL_B2I3	Abcam HeLa TAF12 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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