BTAF1

Summary

BTAF1 (B-TFIID TATA-box binding protein associated factor 1, HGNC:17307) is a protein-coding gene on chromosome 10q23.32, encoding TATA-binding protein-associated factor 172 (O14981). Regulates transcription in association with TATA binding protein (TBP). It is a selective cancer dependency (DepMap: 35.2% of cell lines).

This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters.

Source: NCBI Gene 9044 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 290 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 35.2% of screened cell lines
• MANE Select transcript: NM_003972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17307
Approved symbol	BTAF1
Name	B-TFIID TATA-box binding protein associated factor 1
Location	10q23.32
Locus type	gene with protein product
Status	Approved
Aliases	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170
Ensembl gene	ENSG00000095564
Ensembl biotype	protein_coding
OMIM	605191
Entrez	9044

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000265990, ENST00000471217, ENST00000476401, ENST00000928669, ENST00000928670, ENST00000928671

RefSeq mRNA: 1 — MANE Select: NM_003972 NM_003972

CCDS: CCDS7419

Canonical transcript exons

ENST00000265990 — 38 exons

Exon	Start	End
ENSE00000613141	92016340	92016465
ENSE00000713750	92018783	92018935
ENSE00000810681	92013667	92013808
ENSE00000810682	92013899	92014029
ENSE00000810683	92024756	92024967
ENSE00000810685	92027130	92027300
ENSE00000932844	91939952	91940066
ENSE00000932846	91951403	91951566
ENSE00000932847	91953737	91953873
ENSE00000932848	91956528	91956657
ENSE00000932850	91959065	91959154
ENSE00000986555	91942422	91942568
ENSE00000986561	92026592	92026751
ENSE00001092235	91994535	91994644
ENSE00001092237	91993694	91993847
ENSE00001092238	92009041	92009208
ENSE00001092239	91935657	91935780
ENSE00001092240	91997603	91997751
ENSE00001092241	91992119	91992309
ENSE00001092242	92011286	92011415
ENSE00001092243	91989154	91989580
ENSE00001092244	92008123	92008275
ENSE00001092245	92028790	92031437
ENSE00001092246	91996369	91996570
ENSE00001092247	92011073	92011150
ENSE00001092248	92008829	92008950
ENSE00001255746	91923770	91924090
ENSE00003468456	91964077	91964201
ENSE00003478326	91966637	91966757
ENSE00003491849	91962538	91962678
ENSE00003528834	91980454	91980558
ENSE00003534749	91981643	91981792
ENSE00003591551	91959785	91959880
ENSE00003629466	91982587	91982761
ENSE00003629472	91959978	91960154
ENSE00003654401	91982083	91982225
ENSE00003662189	91984201	91984404
ENSE00003680490	91957225	91957293

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 96.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.4321 / max 1157.4974, expressed in 1819 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106226	39.6153	1819
106227	1.7932	865
106229	0.0235	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	96.45	gold quality
germinal epithelium of ovary	UBERON:0001304	96.13	gold quality
cervix squamous epithelium	UBERON:0006922	96.10	gold quality
hair follicle	UBERON:0002073	95.95	gold quality
tongue squamous epithelium	UBERON:0006919	95.70	gold quality
calcaneal tendon	UBERON:0003701	95.57	gold quality
cartilage tissue	UBERON:0002418	95.38	gold quality
epithelium of nasopharynx	UBERON:0001951	95.18	gold quality
epithelial cell of pancreas	CL:0000083	94.88	gold quality
mucosa of stomach	UBERON:0001199	94.73	gold quality
tibia	UBERON:0000979	94.56	gold quality
upper arm skin	UBERON:0004263	94.41	gold quality
skin of hip	UBERON:0001554	94.23	gold quality
pancreatic ductal cell	CL:0002079	94.22	gold quality
upper leg skin	UBERON:0004262	94.19	gold quality
sperm	CL:0000019	93.60	gold quality
squamous epithelium	UBERON:0006914	93.55	gold quality
skin of abdomen	UBERON:0001416	93.23	gold quality
oviduct epithelium	UBERON:0004804	93.11	gold quality
tonsil	UBERON:0002372	93.06	gold quality
skin of leg	UBERON:0001511	92.96	gold quality
tibial nerve	UBERON:0001323	92.90	gold quality
zone of skin	UBERON:0000014	92.85	gold quality
superficial temporal artery	UBERON:0001614	92.79	gold quality
gingival epithelium	UBERON:0001949	92.79	gold quality
esophagus squamous epithelium	UBERON:0006920	92.72	gold quality
male germ cell	CL:0000015	92.49	gold quality
seminal vesicle	UBERON:0000998	92.42	gold quality
corpus callosum	UBERON:0002336	92.33	gold quality
parietal pleura	UBERON:0002400	92.28	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.30
E-MTAB-6678	yes	4.41

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
DR1	Repression
TBP	Repression

Upstream regulators (CollecTRI, top): NR4A2, TBP

miRNA regulators (miRDB)

186 targeting BTAF1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 35.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• study with the first structural model of the B-TFIID complex and map of its key functional domains (PMID:14988402)
• physical cooperation between BTAF1 and NC2alpha in TBP regulation (PMID:15509807)
• We propose that these density rearrangements in the structure are a likely reflection of the plasticity of the interactions between TFIID and its many partner proteins. (PMID:16531235)
• histone acetylation, although it occurs, is dispensable for TFIID and SWI/SNF recruitment by the strong enhancers (PMID:18025106)
• Results support a model for a BTAF1-mediated release of TBP-NC2 complexes from chromatin. (PMID:20627952)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	btaf1	ENSDARG00000060089
mus_musculus	Btaf1	ENSMUSG00000040565
rattus_norvegicus	Btaf1	ENSRNOG00000017938
drosophila_melanogaster	Hel89B	FBGN0022787
caenorhabditis_elegans		WBGENE00000274

Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), SMARCA5 (ENSG00000153147), CHD1 (ENSG00000153922), SMARCAD1 (ENSG00000163104), RAD54L2 (ENSG00000164080), CHD3 (ENSG00000170004), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275), ERCC6 (ENSG00000225830)

Protein

Protein identifiers

TATA-binding protein-associated factor 172 — O14981 (reviewed: O14981)

Alternative names: ATP-dependent helicase BTAF1, B-TFIID transcription factor-associated 170 kDa subunit, TAF(II)170, TBP-associated factor 172

All UniProt accessions (2): O14981, Q2M1V9

UniProt curated annotations — full annotation on UniProt →

Function. Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

Subunit / interactions. Associates with TBP to form B-TFIID. Binds DRAP1.

Subcellular location. Nucleus.

Similarity. Belongs to the SNF2/RAD54 helicase family.

Isoforms (2)

UniProt ID	Names	Canonical?
O14981-1	1	yes
O14981-2	2

RefSeq proteins (1): NP_003963* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000330	SNF2_N	Domain
IPR001650	Helicase_C-like	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR014001	Helicase_ATP-bd	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR022707	Mot1_central_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR038718	SNF2-like_sf	Homologous_superfamily
IPR044078	Mot1_ATP-bd	Domain
IPR044972	Mot1	Family
IPR049730	SNF2/RAD54-like_C	Domain

Pfam: PF00176, PF00271, PF12054

UniProt features (21 total): repeat 8, domain 2, region of interest 2, short sequence motif 2, compositionally biased region 2, modified residue 2, chain 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14981-F1	76.14	0.24

Functional residue map

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

Ligand- & substrate-binding residues (1): 1291–1298

Post-translational modifications (2): 91, 95

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 218 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_453, GTACAGG_MIR486, ATGTTAA_MIR302C, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, CREB_Q4, ONKEN_UVEAL_MELANOMA_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, TGCTGAY_UNKNOWN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, WTGAAAT_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, CREB_Q2_01, IRF_Q6

GO Biological Process (2): negative regulation of chromatin binding (GO:0035562), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (10): DNA binding (GO:0003677), transcription coregulator activity (GO:0003712), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP-dependent activity, acting on DNA (GO:0008094), ATP hydrolysis activity (GO:0016887), TBP-class protein binding (GO:0017025), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	3
chromatin binding	1
negative regulation of binding	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription regulator activity	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ATP hydrolysis activity	1
catalytic activity, acting on DNA	1
ribonucleoside triphosphate phosphatase activity	1
general transcription initiation factor binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTAF1	TBP	P20226	982
BTAF1	TAF2	Q6P1X5	959
BTAF1	DRAP1	Q14919	744
BTAF1	GTF2B	Q00403	743
BTAF1	DR1	Q01658	712
BTAF1	TAF1	P21675	622
BTAF1	TAF11	Q15544	607
BTAF1	TAF4	O00268	590
BTAF1	TAF6	P49848	582
BTAF1	SMARCA2	P51531	577
BTAF1	TBPL2	Q6SJ96	571
BTAF1	SMARCA4	P51532	559
BTAF1	TAF12	Q16514	557
BTAF1	NCBP2	P52298	518
BTAF1	TAF5	Q15542	515

IntAct

150 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
FZD10	NRP1	psi-mi:“MI:0914”(association)	0.530
CD83	BTAF1	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
BSG	BTAF1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
OPALIN	BTAF1	psi-mi:“MI:0914”(association)	0.530
BTAF1	SSR2	psi-mi:“MI:0915”(physical association)	0.400
PIAS4	BTAF1	psi-mi:“MI:0915”(physical association)	0.370
FOXB1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXE1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXG1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXH1	DDX39A	psi-mi:“MI:0914”(association)	0.350

BioGRID (173): PIH1D3 (Two-hybrid), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Co-fractionation), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS), BTAF1 (Affinity Capture-MS)

ESM2 similar proteins: A1Z7L1, A1ZBE8, A8WTE8, G5EEV2, O08662, O14981, O17237, O60287, O75691, P42173, P42858, P42859, P49815, P49816, P51111, P51112, P78527, Q21106, Q291E4, Q292H2, Q2KHT3, Q3UGY8, Q571H0, Q5JWR5, Q5SPP5, Q5TH69, Q5WNI9, Q5XG71, Q5ZKU4, Q61037, Q61QK6, Q641A2, Q70CQ2, Q80U30, Q8BL99, Q8IGJ0, Q8MYL1, Q8QGX4, Q8T626, Q9H0H0

Diamond homologs: A0A0P0WGX7, A2A8L1, A2BGR3, A3KFM7, A6QQR4, A7Z019, A9X4T1, B0R0I6, B0XPE7, B3NAN8, B4GS98, B5BT18, B5DE69, B6ZLK2, D3Z9Z9, D3ZA12, D3ZD32, E1B7X9, F1Q8K0, F4I2H2, F4IV45, F4J9M5, F4JY24, F4K128, F4KBP5, F8VPZ5, G5EBZ4, G5EF53, O12944, O13682, O14139, O14646, O14981, O43065, O76460, P0CO16, P0CO17, P28370, P31380, P32333

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
DRAP1	“up-regulates activity”	BTAF1	binding
BTAF1	“up-regulates activity”	TBP	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 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
Transport of vitamins, nucleosides, and related molecules	5	12.6×	5e-03
Class A/1 (Rhodopsin-like receptors)	12	8.2×	7e-06
Peptide ligand-binding receptors	12	8.2×	7e-06
GPCR ligand binding	11	6.5×	2e-04
G alpha (q) signalling events	11	5.8×	4e-04
G alpha (s) signalling events	8	5.4×	9e-03
G alpha (i) signalling events	12	4.3×	2e-03
Signaling by GPCR	11	4.1×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	7	16.5×	4e-05
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	10	15.3×	3e-07
positive regulation of cytosolic calcium ion concentration	15	12.3×	2e-09
phospholipase C-activating G protein-coupled receptor signaling pathway	13	12.0×	2e-08
adenylate cyclase-activating G protein-coupled receptor signaling pathway	11	8.7×	1e-05
anatomical structure morphogenesis	7	6.8×	7e-03
G protein-coupled receptor signaling pathway	23	5.8×	5e-09
cell surface receptor signaling pathway	10	4.5×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	167
Likely benign	6
Benign	76

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	Pathogenic

SpliceAI

5972 predictions. Top by Δscore:

Variant	Effect	Δscore
10:91935653:TCA:T	acceptor_loss	1.0000
10:91935655:A:AG	acceptor_gain	1.0000
10:91935655:AG:A	acceptor_gain	1.0000
10:91935656:G:A	acceptor_loss	1.0000
10:91935656:G:GT	acceptor_gain	1.0000
10:91935656:GG:G	acceptor_gain	1.0000
10:91935656:GGC:G	acceptor_gain	1.0000
10:91935656:GGCT:G	acceptor_gain	1.0000
10:91935656:GGCTA:G	acceptor_gain	1.0000
10:91935775:TCTA:T	donor_gain	1.0000
10:91935781:G:GG	donor_gain	1.0000
10:91940083:A:T	donor_gain	1.0000
10:91940092:T:G	donor_gain	1.0000
10:91942378:A:AG	acceptor_gain	1.0000
10:91942378:ACTTT:A	acceptor_gain	1.0000
10:91951394:T:A	acceptor_gain	1.0000
10:91951397:T:A	acceptor_gain	1.0000
10:91951398:GAAA:G	acceptor_loss	1.0000
10:91951401:A:AG	acceptor_gain	1.0000
10:91951401:A:C	acceptor_loss	1.0000
10:91951402:G:GA	acceptor_loss	1.0000
10:91951402:G:GG	acceptor_gain	1.0000
10:91951402:GGT:G	acceptor_gain	1.0000
10:91951487:GAA:G	donor_gain	1.0000
10:91951519:G:GT	donor_gain	1.0000
10:91951562:AACCT:A	donor_gain	1.0000
10:91951563:ACCT:A	donor_gain	1.0000
10:91951564:CCT:C	donor_gain	1.0000
10:91951567:GTAG:G	donor_gain	1.0000
10:91953732:TTTA:T	acceptor_loss	1.0000

AlphaMissense

12166 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:91935716:C:A	A25D	1.000
10:91940006:G:C	A65P	1.000
10:91953814:A:C	R214S	1.000
10:91953814:A:T	R214S	1.000
10:91957288:T:A	W299R	1.000
10:91957288:T:C	W299R	1.000
10:91957290:G:C	W299C	1.000
10:91957290:G:T	W299C	1.000
10:91959866:T:C	F358L	1.000
10:91959868:T:A	F358L	1.000
10:91959868:T:G	F358L	1.000
10:91960098:T:A	W403R	1.000
10:91960098:T:C	W403R	1.000
10:91960100:G:C	W403C	1.000
10:91960100:G:T	W403C	1.000
10:91964129:T:C	L486P	1.000
10:91981715:T:A	W610R	1.000
10:91981715:T:C	W610R	1.000
10:92008262:G:C	R1267T	1.000
10:92008272:G:C	Q1270H	1.000
10:92008272:G:T	Q1270H	1.000
10:92008841:T:A	W1276R	1.000
10:92008841:T:C	W1276R	1.000
10:92008874:G:A	G1287R	1.000
10:92008874:G:C	G1287R	1.000
10:92008875:G:A	G1287E	1.000
10:92008881:T:C	L1289P	1.000
10:92008885:T:G	C1290W	1.000
10:92008886:G:C	D1291H	1.000
10:92008887:A:C	D1291A	1.000

dbSNP variants (sampled 300 via entrez): RS1000011689 (10:91993310 C>A), RS1000081792 (10:91947363 C>T), RS1000194534 (10:92010660 A>G), RS1000199282 (10:91923955 C>T), RS1000265610 (10:91926919 A>G), RS1000269952 (10:91985813 T>G), RS1000311661 (10:91941604 G>A), RS1000321383 (10:91986148 A>G,T), RS1000366044 (10:91956094 C>T), RS1000381500 (10:92025731 C>T), RS1000415524 (10:92025939 T>C), RS1000429398 (10:92007267 G>A), RS1000453495 (10:92028042 G>A), RS1000461450 (10:91943648 A>G), RS1000471533 (10:91962410 A>C,G)

Disease associations

OMIM: gene MIM:605191 | 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
GCST010118_112	Type 2 diabetes	1.000000e-27

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
bisphenol S	affects methylation, affects cotreatment, decreases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases methylation	2
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, decreases reaction	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
jinfukang	decreases expression	1
PCI 5002	increases expression, affects cotreatment	1
Fulvestrant	decreases methylation, affects cotreatment	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1

Clinical trials (associated diseases)

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