BTG1

Summary

BTG1 (BTG anti-proliferation factor 1, HGNC:1130) is a protein-coding gene on chromosome 12q21.33, encoding Protein BTG1 (P62324). Anti-proliferative protein.

This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia.

Source: NCBI Gene 694 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 21 total
• Cancer driver (intOGen): activating (oncogene-like) across 4 cancer types
• MANE Select transcript: NM_001731

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1130
Approved symbol	BTG1
Name	BTG anti-proliferation factor 1
Location	12q21.33
Locus type	gene with protein product
Status	Approved
Aliases	APRO2
Ensembl gene	ENSG00000133639
Ensembl biotype	protein_coding
OMIM	109580
Entrez	694

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000256015, ENST00000552315, ENST00000673901

RefSeq mRNA: 1 — MANE Select: NM_001731 NM_001731

CCDS: CCDS9043

Canonical transcript exons

ENST00000256015 — 2 exons

Exon	Start	End
ENSE00000909443	92145388	92145846
ENSE00001283397	92140278	92144447

Expression profiles

Bgee: expression breadth ubiquitous, 306 present calls, max score 99.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 503.6247 / max 12663.0178, expressed in 1829 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132619	503.1045	1829
132617	0.5203	228

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower lobe of lung	UBERON:0008949	99.71	gold quality
nipple	UBERON:0002030	99.66	gold quality
pericardium	UBERON:0002407	99.54	gold quality
cauda epididymis	UBERON:0004360	99.53	gold quality
lymph node	UBERON:0000029	99.50	gold quality
penis	UBERON:0000989	99.47	gold quality
epithelium of nasopharynx	UBERON:0001951	99.47	gold quality
thymus	UBERON:0002370	99.47	gold quality
nasopharynx	UBERON:0001728	99.45	gold quality
skin of leg	UBERON:0001511	99.42	gold quality
superficial temporal artery	UBERON:0001614	99.42	gold quality
zone of skin	UBERON:0000014	99.39	gold quality
skin of abdomen	UBERON:0001416	99.39	gold quality
pylorus	UBERON:0001166	99.35	gold quality
upper leg skin	UBERON:0004262	99.33	gold quality
vermiform appendix	UBERON:0001154	99.31	gold quality
granulocyte	CL:0000094	99.29	gold quality
spleen	UBERON:0002106	99.29	gold quality
vena cava	UBERON:0004087	99.28	gold quality
caecum	UBERON:0001153	99.27	gold quality
skin of hip	UBERON:0001554	99.27	gold quality
bone marrow	UBERON:0002371	99.27	gold quality
right lung	UBERON:0002167	99.24	gold quality
mammalian vulva	UBERON:0000997	99.23	gold quality
bone element	UBERON:0001474	99.22	gold quality
cartilage tissue	UBERON:0002418	99.22	gold quality
trabecular bone tissue	UBERON:0002483	99.22	gold quality
cardia of stomach	UBERON:0001162	99.19	gold quality
urethra	UBERON:0000057	99.15	gold quality
body of pancreas	UBERON:0001150	99.14	gold quality

Single-cell (SCXA)

Detected in 49 experiment(s), a significant marker in 40.

Experiment	Marker?	Max mean expression
E-HCAD-36	yes	9838.92
E-CURD-122	yes	6357.21
E-HCAD-1	yes	5981.28
E-MTAB-10885	yes	5877.50
E-CURD-46	yes	5534.51
E-CURD-79	yes	4318.36
E-HCAD-15	yes	3982.05
E-CURD-126	yes	3898.30
E-MTAB-10855	yes	3797.68
E-HCAD-38	yes	3747.64
E-MTAB-6701	yes	3584.45
E-MTAB-8495	yes	3546.59
E-CURD-114	yes	3505.21
E-MTAB-8410	yes	3409.30
E-MTAB-10553	yes	3345.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, AR, FOXO3, HBP1, HLX, MYC, NFKB, TP53

miRNA regulators (miRDB)

248 targeting BTG1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3064-3P	100.00	70.09	1254
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-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721

Literature-anchored findings (GeneRIF, showing 40)

• Antiproliferative proteins of the BTG/Tob family are degraded by the ubiquitin-proteasome system. the C-terminal regions are necessary and sufficient to control the stabilities of BTG1, BTG2, Tob, and Tob2 proteins. (PMID:12135500)
• FoxO3a controls expression of BTG1 and subsequent regulation of protein arginine methyl transferase activity. (PMID:14734530)
• BTG1 may play an important role in the process of angiogenesis (PMID:15033446)
• BTG1 is a novel important coactivator involved in the regulation of myoblast differentiation. (PMID:15674337)
• five genes (TNFSF10/TRAIL, IL1RN, IFI27, GZMB, and CCR5) were upregulated and three genes (CLK1, TNFAIP3 and BTG1) were downregulated in at least three out of four subpopulations during acute GVHD. (PMID:18814951)
• These findings support the hypothesis that BTG1 polymorphisms may influence genetic predisposition for MS, especially in relapse-onset MS patients. (PMID:19515430)
• BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia. (PMID:20354172)
• BTG1 loss is a novel finding in acute lymphoblastic leukemia in children with down syndrome (PMID:22072402)
• BTG1 deletions are not associated with down syndrome acute lymphoblastic leukemia (PMID:22868968)
• These results indicate that BTG1 may be used as a novel therapeutic target for human breast cancer treatment. (PMID:23982470)
• Altered BTG1 expression might play a role in the pathogenesis. (PMID:24084718)
• BTG1 expression decreased in nonsmall cell lung cancer and correlated significantly with lymph node metastasis; clinical stage; histological grade; poor overall survival (PMID:24264312)
• BTG1 may play important roles as a negative regulator to breast cancer cell. (PMID:24272202)
• Bcell translocation 1 gene inhibits cellular metastasisassociated behavior in breast cancer. (PMID:24714932)
• Reduced BTG1 expression is associated with increased disease severity, suggesting it is a negative regulator of esophageal cancer (PMID:24969561)
• Reduced BTG1 expression is associated with increased nasopharyngeal cancer severity, suggesting it is a negative regulator of the cancer and can serve as a prognostic indicator. Reduced BTG1 expression is possibly associated with tumour metastasis. (PMID:24985971)
• BTG1 deletions might play a role in leukemogenesis of B-cell precursor acute lymphoblastic leukemia as well as of BCR-ABL1-positive mixed-phenotype acute leukemia and chronic myeloid leukemia in B-lineage blast crisis (B-lineage). (PMID:24998463)
• Results show that reduced BTG1 expression is associated with increased disease severity, suggesting it as negative regulator of thyroid cancer. (PMID:25017022)
• Down-regulation of BTG1 by miR-454-3p renders tumor cells sensitive to radiation. (PMID:25115181)
• BTG1 protein levels were significantly reduced in hepatocellular cancer and were associated with lymph node metastasis, clinical stage, cell differentiation, and prognosis. (PMID:25173640)
• Our results indicate that altered BTG1 expression might affect hepatocarcinogenesis and may represent a novel biomarker for HCC carcinogenesis and progression. (PMID:25405901)
• Altered expression of BTG1 is a potential biomarker for carcinogenesis and progression of gastric cancer, particularly for proximal nondiffuse and diffuse GC. (PMID:25487193)
• Data indicate that microRNA-19a regulates prostate cancer cells by directly targeting B cell translocation gene-1 protein BTG1. (PMID:25936765)
• Suggest that down-regulated BTG1 expression might promote gastric carcinogenesis partially due to its promoter methylation. BTG1 overexpression might reverse the aggressive phenotypes. (PMID:26050197)
• our data suggest that BTG1 overexpression combined with radiation therapy increases the therapeutic efficacy of breast cancer treatment via regulation of the cell cycle and apoptosis-related signaling pathways. (PMID:26503430)
• BTG1 interacts with ATF4 and positively modulates its activity by recruiting the protein arginine methyl transferase PRMT1 to methylate ATF4 on arginine residue 239. (PMID:26657730)
• BTG1 expression is lowered in colorectal cancer cells. Forced BTG1 expression reverses aggressive phenotypes in colorectal cancers. (PMID:27447746)
• our results identify BTG1 as a tumor suppressor in leukemia that, when deleted, strongly enhances the risk of relapse in IKZF1-deleted B-cell precursor acute lymphoblastic leukemia, and augments the glucocorticoid resistance phenotype mediated by the loss of IKZF1 function. (PMID:27979924)
• BTG1 gene deletion is associated with acute lymphoblastic leukemia. (PMID:28033648)
• This study demonstrated for the first time that lower expression of BTG1 correlated with poor survival in PDAC patients, which suggests that BTG1 expression may serve as an available prognostic biomarker in the future (PMID:29076521)
• BTG1 down-regulation in colorectal cancer occurs through epigenetic repression, which is involved in the development and progression of colorectal cancer. (PMID:29374692)
• PUM2 promote glioblastoma development via repressing BTG1 expression (PMID:30787206)
• The treatment effects and the underlying mechanism of B cell translocation gene 1 on the oncogenesis of brain glioma. (PMID:30916818)
• Abnormal expression and mechanism of miR-330-3p/BTG1 axis in hepatocellular carcinoma. (PMID:31486488)
• Down-regulation of BTG1 expression through epigenetic repression is involved in mammary carcinogenesis. (PMID:31570430)
• Expression of B Cell Translocation Gene 1 Protein in Colon Carcinoma and its Clinical Significance. (PMID:31916520)
• Identification of BTG1 Status in Solid Cancer for Future Researches Using a System Review and Meta-analysis. (PMID:32166669)
• Prognostic significance of low expression of B-cell translocation gene 1 (BTG 1) in skin squamous cell carcinoma. (PMID:32457282)
• Frequent loss of BTG1 activity and impaired interactions with the Caf1 subunit of the Ccr4-Not deadenylase in non-Hodgkin lymphoma. (PMID:33021411)
• Exosomal microRNA-301a-3p promotes the proliferation and invasion of nasopharyngeal carcinoma cells by targeting BTG1 mRNA. (PMID:33760119)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	btg1	ENSDARG00000027249
mus_musculus	Btg1	ENSMUSG00000036478
rattus_norvegicus	Btg1	ENSRNOG00000004284
rattus_norvegicus	Btg1c	ENSRNOG00000032390
rattus_norvegicus	Btg1b	ENSRNOG00000047100

Paralogs (3): BTG4 (ENSG00000137707), BTG3 (ENSG00000154640), BTG2 (ENSG00000159388)

Protein

Protein identifiers

Protein BTG1 — P62324 (reviewed: P62324)

Alternative names: B-cell translocation gene 1 protein

All UniProt accessions (2): P62324, Q6IBC8

UniProt curated annotations — full annotation on UniProt →

Function. Anti-proliferative protein.

Subunit / interactions. Interacts with CNOT7 and CNOT8.

Disease relevance. A chromosomal aberration involving BTG1 may be a cause of a form of B-cell chronic lymphocytic leukemia. Translocation t(8;12)(q24;q22) with MYC.

Similarity. Belongs to the BTG family.

RefSeq proteins (1): NP_001722* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002087	Anti_prolifrtn	Domain
IPR033332	BTG	Family
IPR036054	BTG-like_sf	Homologous_superfamily

Pfam: PF07742

UniProt features (4 total): sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62324-F1	81.91	0.69

Functional residue map

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

Post-translational modifications (1): 159

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9617828	FOXO-mediated transcription of cell cycle genes
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9614085	FOXO-mediated transcription

MSigDB gene sets: 518 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, RNGTGGGC_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, SWEET_KRAS_ONCOGENIC_SIGNATURE, JAEGER_METASTASIS_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, HALMOS_CEBPA_TARGETS_UP, GOBP_GROWTH

GO Biological Process (12): regulation of DNA-templated transcription (GO:0006355), response to oxidative stress (GO:0006979), spermatogenesis (GO:0007283), cell population proliferation (GO:0008283), negative regulation of cell population proliferation (GO:0008285), cell migration (GO:0016477), negative regulation of cell growth (GO:0030308), response to peptide hormone (GO:0043434), positive regulation of endothelial cell differentiation (GO:0045603), positive regulation of myoblast differentiation (GO:0045663), positive regulation of angiogenesis (GO:0045766), positive regulation of fibroblast apoptotic process (GO:2000271)

GO Molecular Function (4): transcription coregulator activity (GO:0003712), enzyme binding (GO:0019899), kinase binding (GO:0019900), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
FOXO-mediated transcription	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of cellular process	2
cellular anatomical structure	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
response to stress	1
developmental process involved in reproduction	1
male gamete generation	1
cellular process	1
cell population proliferation	1
regulation of cell population proliferation	1
cell motility	1
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
response to hormone	1
response to nitrogen compound	1
response to oxygen-containing compound	1
positive regulation of epithelial cell differentiation	1
endothelial cell differentiation	1
regulation of endothelial cell differentiation	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
positive regulation of apoptotic process	1
fibroblast apoptotic process	1
regulation of fibroblast apoptotic process	1
transcription regulator activity	1
protein binding	1
enzyme binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

54 interactions, top by confidence:

A	B	Type	Score
CNOT8	BTG1	psi-mi:“MI:0915”(physical association)	0.830
BTG1	CNOT8	psi-mi:“MI:0915”(physical association)	0.830
CNOT7	BTG1	psi-mi:“MI:0915”(physical association)	0.790
BTG1	CNOT7	psi-mi:“MI:0915”(physical association)	0.790
AKT1	MAPK13	psi-mi:“MI:0914”(association)	0.600
AKT1	BTG1	psi-mi:“MI:0915”(physical association)	0.600
BTG1	AKT1	psi-mi:“MI:2364”(proximity)	0.600
GRB2	BTG1	psi-mi:“MI:0915”(physical association)	0.560
BTG1	FADD	psi-mi:“MI:0915”(physical association)	0.560
NCK2	BTG1	psi-mi:“MI:0915”(physical association)	0.560
BTG1	GRB2	psi-mi:“MI:0915”(physical association)	0.560
BTG1	SMAD4	psi-mi:“MI:0915”(physical association)	0.550
SMAD4	BTG1	psi-mi:“MI:2364”(proximity)	0.550
Cnot7	BTG1	psi-mi:“MI:0915”(physical association)	0.530
BTG1	Cnot7	psi-mi:“MI:0915”(physical association)	0.530
BTG1	Cnot7	psi-mi:“MI:0407”(direct interaction)	0.530
BTG1	CDKN2D	psi-mi:“MI:0915”(physical association)	0.490
CDKN2D	BTG1	psi-mi:“MI:0915”(physical association)	0.490

BioGRID (39): CNOT8 (Two-hybrid), CNOT8 (Two-hybrid), CNOT7 (Two-hybrid), CDKN2D (Two-hybrid), PRMT1 (Two-hybrid), PRMT1 (Two-hybrid), BTG1 (Reconstituted Complex), BTG1 (Two-hybrid), FADD (Two-hybrid), GRB2 (Two-hybrid), BTG1 (Proximity Label-MS), CNOT7 (Two-hybrid), CNOT7 (Reconstituted Complex), BTG1 (Two-hybrid), CNOT8 (Reconstituted Complex)

ESM2 similar proteins: A0A0B5AC19, A0A291NUG3, A0A291NUI4, A0A291NUI5, A0A2B4SII1, A0A2B4SJA1, A1JU78, A2CBW8, A2CBW9, A5F5K1, A5GIZ3, A5GVQ6, A8E5V9, B0JPG5, B6KLP1, B8XX90, C3LQX1, E7F4N7, F1M391, O85042, P0C2N4, P34743, P35671, P61416, P62324, P62325, P67695, P67696, P84786, P9WEK2, Q08142, Q0AH80, Q10115, Q2NSJ5, Q31HD6, Q3M745, Q3SGD1, Q3TBT3, Q56052, Q63073

Diamond homologs: A4UTQ2, O70552, O88677, P27049, P34743, P40744, P40745, P50615, P50616, P53348, P62324, P62325, P78543, Q04211, Q14106, Q14201, Q54NU5, Q61471, Q63073, Q8R5K6, Q9JM55, Q9NY30

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
BTG1	“up-regulates activity”	HOXB9	binding
AR	“down-regulates quantity by repression”	BTG1	“transcriptional regulation”

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 4 cancer types — CLLSLL, DLBCLNOS, NHL, PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

345 predictions. Top by Δscore:

Variant	Effect	Δscore
12:92145383:CTCA:C	donor_loss	1.0000
12:92144150:CAG:C	donor_gain	0.9900
12:92144203:T:TA	donor_gain	0.9900
12:92144448:C:CC	acceptor_gain	0.9900
12:92145386:A:AC	donor_gain	0.9900
12:92145386:ACCTG:A	donor_gain	0.9900
12:92145387:C:CC	donor_gain	0.9900
12:92145387:CCTG:C	donor_gain	0.9900
12:92145387:CCTGC:C	donor_gain	0.9900
12:92145390:G:A	donor_gain	0.9900
12:92144444:TGTT:T	acceptor_gain	0.9800
12:92144144:T:TA	donor_gain	0.9700
12:92144450:A:C	acceptor_gain	0.9700
12:92144081:TA:T	donor_gain	0.9600
12:92144082:AA:A	donor_gain	0.9600
12:92144163:TGTC:T	donor_gain	0.9600
12:92144445:GTT:G	acceptor_gain	0.9600
12:92144166:C:CT	donor_gain	0.9500
12:92144167:T:TT	donor_gain	0.9500
12:92144446:TT:T	acceptor_gain	0.9500
12:92144447:TC:T	acceptor_loss	0.9400
12:92144448:C:CA	acceptor_loss	0.9400
12:92144145:C:A	donor_gain	0.9300
12:92144198:C:CT	donor_gain	0.9300
12:92144199:T:TT	donor_gain	0.9300
12:92144443:ATGTT:A	acceptor_gain	0.9300
12:92144450:A:AC	acceptor_gain	0.9300
12:92144083:A:C	donor_gain	0.9100
12:92144554:A:C	donor_gain	0.8900
12:92144149:A:AC	donor_gain	0.8800

AlphaMissense

1119 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:92144240:C:A	G119V	1.000
12:92144240:C:T	G119D	1.000
12:92144241:C:A	G119C	1.000
12:92144241:C:G	G119R	1.000
12:92144246:T:A	E117V	1.000
12:92144249:C:A	G116V	1.000
12:92144249:C:T	G116E	1.000
12:92144250:C:G	G116R	1.000
12:92144250:C:T	G116R	1.000
12:92144252:A:T	I115N	1.000
12:92144254:T:A	R114S	1.000
12:92144254:T:G	R114S	1.000
12:92144255:C:A	R114I	1.000
12:92144255:C:G	R114T	1.000
12:92144256:T:C	R114G	1.000
12:92144259:A:C	Y113D	1.000
12:92144259:A:G	Y113H	1.000
12:92144262:A:G	S112P	1.000
12:92144265:C:A	V111L	1.000
12:92144265:C:G	V111L	1.000
12:92144265:C:T	V111M	1.000
12:92144273:G:A	P108L	1.000
12:92144273:G:T	P108H	1.000
12:92144274:G:A	P108S	1.000
12:92144274:G:T	P108T	1.000
12:92144276:T:A	D107V	1.000
12:92144276:T:C	D107G	1.000
12:92144276:T:G	D107A	1.000
12:92144277:C:G	D107H	1.000
12:92144279:A:T	V106D	1.000

dbSNP variants (sampled 300 via entrez): RS1000216168 (12:92143859 T>A,C), RS1000247244 (12:92144120 C>A,G), RS1001018643 (12:92146320 A>C,G), RS1001496799 (12:92147656 C>T), RS1001702436 (12:92143147 GATTT>G), RS1001796615 (12:92147177 A>G), RS1002005358 (12:92140925 G>C), RS1002256953 (12:92141598 A>G), RS1002356198 (12:92140707 G>A,C), RS1002513396 (12:92145058 A>C), RS1002908204 (12:92146312 C>A,T), RS1003025553 (12:92144692 A>G), RS1003450758 (12:92145566 G>A), RS1003664440 (12:92140199 G>A), RS1003712678 (12:92140500 T>A)

Disease associations

OMIM: gene MIM:109580 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000675_5	Heart failure	2.000000e-06
GCST004946_60	Schizophrenia	5.000000e-08
GCST006803_38	Schizophrenia	2.000000e-08
GCST007201_176	Schizophrenia	1.000000e-09
GCST007201_306	Schizophrenia	4.000000e-07
GCST009391_34	Metabolite levels	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010116	choline measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
bisphenol A	affects cotreatment, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	3
nickel sulfate	increases expression	3
(+)-JQ1 compound	decreases expression, increases expression	3
Benzo(a)pyrene	increases methylation, decreases methylation, increases expression	3
Cisplatin	affects reaction, decreases expression, affects cotreatment, increases expression	3
Doxorubicin	affects expression, increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	3
Aflatoxin B1	increases expression, decreases methylation	3
epigallocatechin gallate	decreases expression, affects cotreatment, increases expression	2
arsenic disulfide	affects expression, increases expression	2
chloropicrin	affects expression, decreases expression	2
Atrazine	affects cotreatment, increases expression	2
Dexamethasone	affects cotreatment, increases expression	2
Estradiol	decreases expression	2
Formaldehyde	increases expression	2
Indomethacin	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
N(6)-(delta(2)-isopentenyl)adenine	increases expression	1
ethylbenzene	increases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
afimoxifene	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B7WA	Abcam Raji BTG1 KO	Cancer cell line	Male
CVCL_B9WT	Abcam THP-1 BTG1 KO	Cancer cell line	Male
CVCL_C6YU	Abcam PC-3 BTG1 KO	Cancer cell line	Male
CVCL_E1SF	HAP1 BTG1 (-) 2	Cancer cell line	Male
CVCL_XM14	HAP1 BTG1 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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