GTF2E1

Summary

GTF2E1 (general transcription factor IIE subunit 1, HGNC:4650) is a protein-coding gene on chromosome 3q13.33, encoding General transcription factor IIE subunit 1 (P29083). Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. It is a common-essential gene (DepMap: required in 98.9% of cancer cell lines).

Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of transcription factor TFIID complex.

Source: NCBI Gene 2960 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 62 total
• Cancer dependency (DepMap): dependent in 98.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_005513

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4650
Approved symbol	GTF2E1
Name	general transcription factor IIE subunit 1
Location	3q13.33
Locus type	gene with protein product
Status	Approved
Aliases	TFIIE-A, FE
Ensembl gene	ENSG00000153767
Ensembl biotype	protein_coding
OMIM	189962
Entrez	2960

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 22 protein_coding, 1 retained_intron

ENST00000283875, ENST00000469772, ENST00000484715, ENST00000492959, ENST00000497393, ENST00000881964, ENST00000881965, ENST00000881966, ENST00000932500, ENST00000932501, ENST00000932502, ENST00000932503, ENST00000932504, ENST00000932505, ENST00000932506, ENST00000932507, ENST00000932508, ENST00000932509, ENST00000932510, ENST00000932511, ENST00000959111, ENST00000959112, ENST00000959113

RefSeq mRNA: 1 — MANE Select: NM_005513 NM_005513

CCDS: CCDS3002

Canonical transcript exons

ENST00000283875 — 5 exons

Exon	Start	End
ENSE00001012283	120750523	120751000
ENSE00001074548	120776423	120776664
ENSE00001206456	120781043	120783069
ENSE00001931632	120742744	120742794
ENSE00003613958	120770728	120770929

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 95.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5983 / max 276.5256, expressed in 1775 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
38177	9.1763	1756
38178	1.4220	914

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.83	gold quality
secondary oocyte	CL:0000655	92.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.23	gold quality
cervix squamous epithelium	UBERON:0006922	84.60	silver quality
periodontal ligament	UBERON:0008266	84.58	gold quality
adrenal tissue	UBERON:0018303	83.99	gold quality
sperm	CL:0000019	83.50	silver quality
monocyte	CL:0000576	83.33	gold quality
mononuclear cell	CL:0000842	83.19	gold quality
leukocyte	CL:0000738	83.15	gold quality
stromal cell of endometrium	CL:0002255	82.89	gold quality
male germ cell	CL:0000015	82.34	silver quality
right adrenal gland cortex	UBERON:0035827	82.18	gold quality
islet of Langerhans	UBERON:0000006	81.97	gold quality
tibia	UBERON:0000979	81.57	gold quality
right adrenal gland	UBERON:0001233	81.29	gold quality
embryo	UBERON:0000922	81.12	gold quality
endometrium epithelium	UBERON:0004811	80.56	gold quality
colonic epithelium	UBERON:0000397	80.54	gold quality
trabecular bone tissue	UBERON:0002483	80.39	silver quality
cortical plate	UBERON:0005343	80.39	gold quality
endometrium	UBERON:0001295	80.10	gold quality
adrenal gland	UBERON:0002369	79.89	gold quality
choroid plexus epithelium	UBERON:0003911	79.72	gold quality
left adrenal gland	UBERON:0001234	79.60	gold quality
ventricular zone	UBERON:0003053	79.42	gold quality
esophagus squamous epithelium	UBERON:0006920	79.37	gold quality
left adrenal gland cortex	UBERON:0035825	79.30	gold quality
adrenal cortex	UBERON:0001235	79.28	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6379	no	952.72
E-ANND-3	no	3.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting GTF2E1, 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-3163	100.00	77.23	8605
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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4428	99.73	66.41	1733

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 10)

• structural integrity of the zinc finger domain is essential for the TFIIE function (PMID:15385556)
• TFIIE is an alpha/beta heterodimer in solution. A model for the quaternary architecture of the complex is proposed that provides a structural framework to discuss the function of TFIIE in the context of RNA polymerase II transcription initiation. (PMID:16547462)
• interplay between TFIIEalpha and the tumor suppressor protein p53 in regulating transcriptional activation that may be modulated by the phosphorylation status of p53 (PMID:18160537)
• The specific binding of the C-terminal acidic domain (AC-D) of the human TFIIEalpha subunit to the pleckstrin homology domain (PH-D) of the human TFIIH p62 subunit is demonstrated. (PMID:18354501)
• Association of the winged helix motif of the TFIIEalpha subunit of TFIIE with either the TFIIEbeta subunit or TFIIB distinguishes its functions in transcription. (PMID:25492609)
• The N-terminal highly acidic region of TFIIEalpha interacts with the pleckstrin homology domain of TFIIH and adopts an extended stringlike structure on the positive groove of the pleckstrin homology domain with two hydrophobic amino acids, Phe387 and Val390, inserting into two shallow hydrophobic pockets of the pleckstrin homology domain. (PMID:27602723)
• The N-terminal half of TFIIEalpha forms an extended winged helix (WH) domain with an additional helix, followed by a zinc-finger domain. TFIIEbeta contains the WH2 domain, followed by two coiled-coil helices intertwining with TFIIEalpha. (PMID:27639436)
• the eWH domain of hTFIIEalpha can replace the first eWH (eWH1) domain of hRPC62 in ATPase and DNA unwinding assays. Our results identify intrinsic enzymatic activities in hRPC62 and hTFIIEalpha. (PMID:31529052)
• MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells. (PMID:34553694)
• Nucleolar TFIIE plays a role in ribosomal biogenesis and performance. (PMID:34581812)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gtf2e1	ENSDARG00000000542
mus_musculus	Gtf2e1	ENSMUSG00000022828
rattus_norvegicus	Gtf2e1	ENSRNOG00000026008
drosophila_melanogaster	TfIIEalpha	FBGN0015828
caenorhabditis_elegans		WBGENE00013998

Protein

Protein identifiers

General transcription factor IIE subunit 1 — P29083 (reviewed: P29083)

Alternative names: General transcription factor IIE 56 kDa subunit, Transcription initiation factor IIE subunit alpha

All UniProt accessions (4): P29083, C9IYL4, C9J329, E9PER7

UniProt curated annotations — full annotation on UniProt →

Function. Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.

Subunit / interactions. Tetramer of two alpha and two beta chains. Interacts with TAF6/TAFII80. Interacts with ATF7IP. Interacts with SND1. Part of TBP-based Pol II pre-initiation complex (PIC), in which Pol II core assembles with general transcription factors and other specific initiation factors including GTF2E1, GTF2E2, GTF2F1, GTF2F2, TCEA1, ERCC2, ERCC3, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2A1, GTF2A2, GTF2B and TBP; this large multi-subunit PIC complex mediates DNA unwinding and targets Pol II core to the transcription start site where the first phosphodiester bond forms. (Microbial infection) Interacts with varicella-zoster virus IE63 protein.

Subcellular location. Nucleus.

Similarity. Belongs to the TFIIE alpha subunit family.

RefSeq proteins (1): NP_005504* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002853	TFIIE_asu	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013137	Znf_TFIIB	Domain
IPR017919	TFIIE/TFIIEa_HTH	Domain
IPR021600	TFIIE_asu_C	Domain
IPR024550	TFIIEa/SarR/Rpc3_HTH_dom	Domain
IPR039997	TFE	Family

Pfam: PF02002, PF08271, PF11521

UniProt features (43 total): helix 12, strand 11, binding site 4, modified residue 3, turn 3, compositionally biased region 3, initiator methionine 1, chain 1, sequence variant 1, sequence conflict 1, domain 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

48 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5GPY	X-RAY DIFFRACTION	2.1
7NVU	ELECTRON MICROSCOPY	2.5
7NVS	ELECTRON MICROSCOPY	2.8
7NVT	ELECTRON MICROSCOPY	2.9
7NVV	ELECTRON MICROSCOPY	2.9
8S52	ELECTRON MICROSCOPY	2.9
8S51	ELECTRON MICROSCOPY	3.1
7EGB	ELECTRON MICROSCOPY	3.3
8S54	ELECTRON MICROSCOPY	3.4
8S55	ELECTRON MICROSCOPY	3.4
8S5N	ELECTRON MICROSCOPY	3.4
7EG9	ELECTRON MICROSCOPY	3.7
5IYB	ELECTRON MICROSCOPY	3.9
5IYC	ELECTRON MICROSCOPY	3.9
5IYD	ELECTRON MICROSCOPY	3.9
7EGC	ELECTRON MICROSCOPY	3.9
7NVX	ELECTRON MICROSCOPY	3.9
8BVW	ELECTRON MICROSCOPY	4
7ENA	ELECTRON MICROSCOPY	4.07
7EGA	ELECTRON MICROSCOPY	4.1
8BYQ	ELECTRON MICROSCOPY	4.1
7ENC	ELECTRON MICROSCOPY	4.13
8GXS	ELECTRON MICROSCOPY	4.16
7NVW	ELECTRON MICROSCOPY	4.3
7NVR	ELECTRON MICROSCOPY	4.5
7LBM	ELECTRON MICROSCOPY	4.8
8GXQ	ELECTRON MICROSCOPY	5.04
5IYA	ELECTRON MICROSCOPY	5.4
8WAK	ELECTRON MICROSCOPY	5.47
8WAP	ELECTRON MICROSCOPY	5.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P29083-F1	67.70	0.03

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 (4): 154; 157; 129; 132

Post-translational modifications (3): 2, 67, 268

Function

Pathways and Gene Ontology

Reactome pathways

17 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-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-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: 123 (showing top): THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, SHIPP_DLBCL_CURED_VS_FATAL_DN, PUJANA_CHEK2_PCC_NETWORK, REACTOME_HIV_INFECTION, GENTILE_UV_RESPONSE_CLUSTER_D2, GROSS_HYPOXIA_VIA_ELK3_UP, GROSS_HYPOXIA_VIA_HIF1A_UP, GENTILE_UV_HIGH_DOSE_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOCC_RNA_POLYMERASE_COMPLEX, MODULE_98, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, RIGGINS_TAMOXIFEN_RESISTANCE_DN, GOCC_TRANSCRIPTION_FACTOR_TFIID_COMPLEX

GO Biological Process (2): transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367)

GO Molecular Function (4): zinc ion binding (GO:0008270), RNA polymerase II general transcription initiation factor activity (GO:0016251), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), transcription factor TFIIE complex (GO:0005673), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-10 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
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Disease	1
Gene expression (Transcription)	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
cellular anatomical structure	2
RNA polymerase II, holoenzyme	2
RNA polymerase II transcription regulator complex	2
DNA-templated transcription	1
DNA-templated transcription initiation	1
transition metal ion binding	1
general transcription initiation factor activity	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

1814 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GTF2E1	GTF2E2	P29084	994
GTF2E1	GTF2B	Q00403	954
GTF2E1	GTF2F1	P35269	937
GTF2E1	GTF2F2	P13984	905
GTF2E1	TBP	P20226	864
GTF2E1	GTF2H1	P32780	828
GTF2E1	POLR2A	P24928	804
GTF2E1	ERCC3	P19447	777
GTF2E1	GTF2A2	P52657	764
GTF2E1	SUPT5H	O00267	762
GTF2E1	TAF7	Q15545	757
GTF2E1	SUPT6H	Q7KZ85	744
GTF2E1	GTF2A1	P52655	732
GTF2E1	TAF12	Q16514	687
GTF2E1	POLR3C	Q9BUI4	660

IntAct

68 interactions, top by confidence:

A	B	Type	Score
GTF2E1	GTF2E2	psi-mi:“MI:0915”(physical association)	0.870
GTF2E2	GTF2E1	psi-mi:“MI:0407”(direct interaction)	0.870
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
GTF2E1	GTF2H1	psi-mi:“MI:0407”(direct interaction)	0.790
POLR2E	POLR2D	psi-mi:“MI:0915”(physical association)	0.790
GTF2E1	GTF2H1	psi-mi:“MI:0915”(physical association)	0.790
GTF2H1	GTF2E1	psi-mi:“MI:0407”(direct interaction)	0.790
GTF2E2	OIP5	psi-mi:“MI:0914”(association)	0.640
TGIF2LY	PGP	psi-mi:“MI:0914”(association)	0.640
GTF2E1	NRARP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (190): ANAPC5 (Co-fractionation), ATF7IP (Co-fractionation), EEF1G (Co-fractionation), GTF2E1 (Co-fractionation), GTF2E2 (Co-fractionation), GTF2E1 (Proximity Label-MS), GTF2E1 (Affinity Capture-MS), GTF2E1 (Proximity Label-MS), GTF2E1 (Affinity Capture-MS), GTF2E1 (Affinity Capture-MS), GTF2E1 (Positive Genetic), GTF2E1 (Positive Genetic), GTF2E1 (Positive Genetic), GTF2E1 (Positive Genetic), GTF2E1 (Positive Genetic)

ESM2 similar proteins: A0A2Z4HPY1, A1CHD1, A1CXF4, A4RLI4, A6QLI8, A6RBB0, A6SK81, A7EGB5, A8N1X3, B0CQL7, B0Y612, B2WBA7, G0S920, O13701, P0CO38, P0CO39, P28519, P29083, P36100, P38431, Q0CLP9, Q0V577, Q1DLJ4, Q2GUW6, Q2HCV1, Q2UGQ8, Q4IB50, Q4IJ11, Q4IPB3, Q4P7X6, Q4W9V0, Q4WNY4, Q4WP65, Q4WSM6, Q4WU07, Q5B4T5, Q5B6K3, Q5BEG5, Q5R8H5, Q6CGB2

Diamond homologs: A6QLI8, P29083, Q557M8, Q5R8H5, Q9D0D5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GTF2E1	“form complex”	TFIIE	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 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
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	6	76.5×	3e-09
RNA Pol II CTD phosphorylation and interaction with CE	6	76.5×	3e-09
mRNA Capping	6	71.4×	4e-09
Formation of the Early Elongation Complex	6	63.0×	8e-09
Formation of the HIV-1 Early Elongation Complex	6	63.0×	8e-09
HIV Transcription Initiation	8	58.3×	3e-11
RNA Polymerase II HIV Promoter Escape	8	58.3×	3e-11
RNA Polymerase II Promoter Escape	8	58.3×	3e-11

GO biological processes:

GO term	Partners	Fold	FDR
transcription initiation at RNA polymerase II promoter	8	66.6×	7e-11
transcription by RNA polymerase II	7	11.0×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1016 predictions. Top by Δscore:

Variant	Effect	Δscore
3:120750518:TTCA:T	acceptor_loss	1.0000
3:120750519:TCA:T	acceptor_loss	1.0000
3:120750520:CA:C	acceptor_loss	1.0000
3:120750521:A:AG	acceptor_gain	1.0000
3:120750521:AGT:A	acceptor_loss	1.0000
3:120750522:G:C	acceptor_loss	1.0000
3:120750522:G:GA	acceptor_gain	1.0000
3:120750522:GT:G	acceptor_gain	1.0000
3:120750522:GTA:G	acceptor_gain	1.0000
3:120750522:GTAT:G	acceptor_gain	1.0000
3:120750522:GTATA:G	acceptor_gain	1.0000
3:120770725:TAGGA:T	acceptor_loss	1.0000
3:120770726:A:AG	acceptor_gain	1.0000
3:120770726:AG:A	acceptor_gain	1.0000
3:120770727:G:A	acceptor_loss	1.0000
3:120770727:G:GG	acceptor_gain	1.0000
3:120770727:GG:G	acceptor_gain	1.0000
3:120770727:GGA:G	acceptor_gain	1.0000
3:120770727:GGAA:G	acceptor_gain	1.0000
3:120770925:CAGAG:C	donor_gain	1.0000
3:120770926:AGAG:A	donor_gain	1.0000
3:120770927:GAG:G	donor_gain	1.0000
3:120770927:GAGG:G	donor_gain	1.0000
3:120770930:G:GG	donor_gain	1.0000
3:120770930:GT:G	donor_loss	1.0000
3:120770931:T:G	donor_loss	1.0000
3:120776418:T:G	acceptor_gain	1.0000
3:120776420:T:G	acceptor_gain	1.0000
3:120776421:A:AG	acceptor_gain	1.0000
3:120776422:G:GA	acceptor_gain	1.0000

AlphaMissense

2912 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:120750872:T:C	L107P	1.000
3:120750931:T:C	F127L	1.000
3:120750932:T:C	F127S	1.000
3:120750933:C:A	F127L	1.000
3:120750933:C:G	F127L	1.000
3:120750937:T:A	C129S	1.000
3:120750937:T:C	C129R	1.000
3:120750938:G:C	C129S	1.000
3:120750946:T:C	C132R	1.000
3:120750958:T:C	F136L	1.000
3:120750960:C:A	F136L	1.000
3:120750960:C:G	F136L	1.000
3:120750968:T:C	L139S	1.000
3:120770739:T:A	C154S	1.000
3:120770739:T:C	C154R	1.000
3:120770740:G:C	C154S	1.000
3:120770741:T:G	C154W	1.000
3:120770851:T:C	L191P	1.000
3:120776610:T:A	W280R	1.000
3:120776610:T:C	W280R	1.000
3:120750605:C:A	A18D	0.999
3:120750625:T:C	F25L	0.999
3:120750627:T:A	F25L	0.999
3:120750627:T:G	F25L	0.999
3:120750721:A:G	K57E	0.999
3:120750723:G:C	K57N	0.999
3:120750723:G:T	K57N	0.999
3:120750728:T:C	L59P	0.999
3:120750749:T:C	L66S	0.999
3:120750829:T:C	F93L	0.999

dbSNP variants (sampled 300 via entrez): RS1000161894 (3:120747407 C>G,T), RS1000174333 (3:120752467 C>A,T), RS1000249083 (3:120748091 G>A), RS1000250442 (3:120766421 C>G,T), RS1000280459 (3:120759000 T>C), RS1000304509 (3:120766193 T>G), RS1000471089 (3:120780352 G>A), RS1000493286 (3:120765533 G>A,T), RS1000522932 (3:120780060 CT>C,CTT), RS1000526322 (3:120752895 C>T), RS1000553661 (3:120772967 A>C,G), RS1000587927 (3:120744408 G>A), RS1000732501 (3:120780263 A>G), RS1000814864 (3:120772687 A>G), RS1000839354 (3:120749689 G>A,C,T)

Disease associations

OMIM: gene MIM:189962 | 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
GCST001762_465	Obesity-related traits	2.000000e-07
GCST001762_569	Obesity-related traits	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Benztropine	decreases expression	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Haloperidol	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Nickel	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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