BTG3

Summary

BTG3 (BTG anti-proliferation factor 3, HGNC:1132) is a protein-coding gene on chromosome 21q21.1, encoding Protein BTG3 (Q14201). Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase.

The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10950 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 57 total — 3 pathogenic
• MANE Select transcript: NM_006806

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1132
Approved symbol	BTG3
Name	BTG anti-proliferation factor 3
Location	21q21.1
Locus type	gene with protein product
Status	Approved
Aliases	ANA, tob55, APRO4, ANA/BTG3
Ensembl gene	ENSG00000154640
Ensembl biotype	protein_coding
OMIM	605674
Entrez	10950

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 26 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000339775, ENST00000348354, ENST00000457956, ENST00000464058, ENST00000471860, ENST00000496601, ENST00000880537, ENST00000880538, ENST00000880539, ENST00000880540, ENST00000880541, ENST00000880542, ENST00000880543, ENST00000880544, ENST00000880545, ENST00000880546, ENST00000880547, ENST00000880548, ENST00000880549, ENST00000880550, ENST00000880551, ENST00000932922, ENST00000932923, ENST00000932924, ENST00000957438, ENST00000957439, ENST00000957440, ENST00000957441, ENST00000957442

RefSeq mRNA: 2 — MANE Select: NM_006806 NM_001130914, NM_006806

CCDS: CCDS13569, CCDS46636

Canonical transcript exons

ENST00000348354 — 5 exons

Exon	Start	End
ENSE00001016961	17604860	17604997
ENSE00001016965	17608972	17609152
ENSE00001016967	17598617	17598824
ENSE00001597441	17612699	17612901
ENSE00003902019	17593653	17594332

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 98.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.9293 / max 419.7655, expressed in 1806 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189851	53.7870	1805
189852	3.1423	1430

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	98.71	gold quality
cartilage tissue	UBERON:0002418	98.48	gold quality
corpus epididymis	UBERON:0004359	97.83	gold quality
ganglionic eminence	UBERON:0004023	97.75	gold quality
parotid gland	UBERON:0001831	97.08	gold quality
gingival epithelium	UBERON:0001949	96.94	gold quality
gingiva	UBERON:0001828	96.72	gold quality
islet of Langerhans	UBERON:0000006	96.70	gold quality
right uterine tube	UBERON:0001302	96.39	gold quality
type B pancreatic cell	CL:0000169	96.17	gold quality
lower lobe of lung	UBERON:0008949	95.61	gold quality
adult organism	UBERON:0007023	95.34	gold quality
upper leg skin	UBERON:0004262	95.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.11	gold quality
left uterine tube	UBERON:0001303	95.04	gold quality
right lung	UBERON:0002167	95.03	gold quality
hair follicle	UBERON:0002073	94.95	gold quality
skin of abdomen	UBERON:0001416	94.87	gold quality
placenta	UBERON:0001987	94.74	gold quality
body of uterus	UBERON:0009853	94.65	gold quality
vena cava	UBERON:0004087	94.59	gold quality
right testis	UBERON:0004534	94.57	gold quality
zone of skin	UBERON:0000014	94.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.37	gold quality
mammalian vulva	UBERON:0000997	94.32	gold quality
embryo	UBERON:0000922	94.30	gold quality
seminal vesicle	UBERON:0000998	94.22	gold quality
skin of leg	UBERON:0001511	94.12	gold quality
cauda epididymis	UBERON:0004360	93.98	gold quality
lung	UBERON:0002048	93.96	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-10283	yes	479.39
E-GEOD-106540	yes	479.07
E-MTAB-5061	yes	257.89
E-MTAB-6701	yes	123.48
E-MTAB-8142	yes	92.60
E-HCAD-5	yes	34.30
E-HCAD-4	yes	26.17
E-HCAD-31	yes	23.16
E-CURD-46	yes	17.74
E-CURD-114	yes	10.84
E-GEOD-93593	yes	9.83
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

89 targeting BTG3, 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-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Literature-anchored findings (GeneRIF, showing 27)

• by disrupting the DNA binding activity of E2F1, BTG3 participates in the regulation of E2F1 target gene expression. Therefore, our studies have revealed a previously unidentified pathway through which the activity of E2F1 may be guarded by activated p53. (PMID:17690688)
• These data support the hypothesis that BTG3 may act to suppress tumorigenesis and that hypermethylation is an important mechanism for inactivation of BTG3 and perhaps other tumor suppressor genes. (PMID:18590053)
• BTG3 is epigenetically silenced in renal cancer (PMID:19221000)
• loss of BTG3 in normal cells induced cellular senescence, which was correlated with enhanced ERK-AP1 signaling and elevated expression of the histone H3K27me3 demethylase JMJD3/KDM6B (PMID:22020331)
• BTG3-dependent CHK1 ubiquitination contributes to its chromatin localization and activation and a defect in this regulation may increase genome instability and promote tumorigenesis (PMID:23533280)
• BTG3 protein expression may be considered as a good marker to indicate the favorable prognosis of epithelial ovarian carcinoma. (PMID:23657964)
• These results disclosed an important role of BTG3 in lung tumorigenesis. (PMID:23810394)
• Down-regulation of BTG3 promotes cell proliferation, migration and invasion in gastric cancer. (PMID:25238703)
• BTG3 binds and suppresses AKT, a kinase frequently deregulated in cancers. (PMID:25569101)
• The suppressed migration and invasion abilities found in BTG3-overexpressing esophageal adenocarcinoma cells. Our findings suggested that BTG3 is suppressor in the progression of esophageal adenocarcinoma (PMID:25701359)
• BTG3 overexpression might reverse the aggressive phenotypes and be employed as a potential target for gene therapy of gastric cancer. (PMID:25904053)
• BTG3 overexpression inhibited cell growth, induced cell cycle arrest and suppressed the metastasis of SW480 cells via the Wnt/beta-catenin signaling pathway. BTG3 may be considered as a therapeutic target in CRC treatment. (PMID:27468874)
• Taken together, the results of our study suggest that BTG3 overexpression could inhibit cell proliferation and invasion and promotes cell apoptosis in EOC cell, possibly by regulating the AKT/GSK3beta/beta-catenin signaling pathway (PMID:28183228)
• ANA and ASMA evaluation in patients with liver transplantation and no history of autoimmune disease has no clinical relevance, since it varies in time and is not related to any risk factors or liver injury. Routine autoimmunity evaluation should be avoided. (PMID:28337446)
• BTG3 overexpression inhibited tumor growth of SW620 cells by suppressing proliferation and inducing apoptosis. It was suggested that down-regulated BTG3 expression might be considered as a marker for colorectal carcinogenesis. (PMID:28407690)
• BTG3 is a direct downstream target of miR-106b-5p. (PMID:29197876)
• Data show that miR-139 can repress the proliferation of hepatocellular carcinoma (HCC) cells via directly inhibiting the expression of ANA protein, human Add B-cell translocation gene 3 protein (BTG3). (PMID:29268856)
• BTG3 expression might contribute to CRC carcinogenesis. BTG3 knockdown might strengthen the aggressive colorectal cancer behavior. (PMID:29270670)
• Inhibition of miR-93-5p may have blocked HPV-positive cervical cancer development by targeting of BTG3. (PMID:30689165)
• HOTAIRM1 might act as a tumor-suppressor in 5-fluorouracil resistant colorectal cancer cells in vitro and in vivo through downregulating miR-17-5p/BTG3 pathway and inhibiting multi-drug resistance. (PMID:31261026)
• miR-519c-3p functions as a tumor promotor in regulating the growth and metastasis of hepatocellular carcinoma by targeting BTG3. (PMID:31387005)
• Hypoxia-induced downregulation of B-cell translocation gene 3 confers resistance to radiation therapy of colorectal cancer. (PMID:32620986)
• Long noncoding RNA CA3-AS1 suppresses gastric cancer migration and invasion by sponging miR-93-5p and targeting BTG3. (PMID:33051589)
• Loss of the tumor suppressor BTG3 drives a pro-angiogenic tumor microenvironment through HIF-1 activation. (PMID:33311481)
• Long non-coding RNA cancer susceptibility candidate 2 regulates the function of human fibroblast-like synoviocytes via the microRNA-18a-5p/B-cell translocation gene 3 signaling axis in rheumatoid arthritis. (PMID:35045800)
• Correlation between BTG3, CASP9 and LRP4 single-nucleotide polymorphisms and susceptibility to papillary thyroid carcinoma. (PMID:35362324)
• A keratinocyte-adipocyte signaling loop is reprogrammed by loss of BTG3 to augment skin carcinogenesis. (PMID:38714880)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	btg3	ENSDARG00000069065
mus_musculus	Btg3	ENSMUSG00000022863
rattus_norvegicus	Btg3	ENSRNOG00000001555

Paralogs (3): BTG1 (ENSG00000133639), BTG4 (ENSG00000137707), BTG2 (ENSG00000159388)

Protein

Protein identifiers

Protein BTG3 — Q14201 (reviewed: Q14201)

Alternative names: Abundant in neuroepithelium area protein, BTG family member 3, Protein Tob5

All UniProt accessions (3): Q14201, C9JLA2, Q6IAU3

UniProt curated annotations — full annotation on UniProt →

Function. Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase.

Tissue specificity. Ubiquitous. High expression in the ventricular zone of the developing central nervous system. High in ovary, testis, prostate, thymus and lung.

Similarity. Belongs to the BTG family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14201-1	1	yes
Q14201-2	2

RefSeq proteins (2): NP_001124386, NP_006797* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF07742

UniProt features (5 total): sequence conflict 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14201-F1	71.61	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 338 (showing top): GCACCTT_MIR18A_MIR18B, LEE_NEURAL_CREST_STEM_CELL_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, KANG_FLUOROURACIL_RESISTANCE_UP, TGCACTT_MIR519C_MIR519B_MIR519A, ENK_UV_RESPONSE_KERATINOCYTE_UP, BECKER_TAMOXIFEN_RESISTANCE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_511, KYNG_DNA_DAMAGE_DN, BROWNE_HCMV_INFECTION_16HR_UP, TOMLINS_PROSTATE_CANCER_DN, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN

GO Biological Process (2): negative regulation of cell population proliferation (GO:0008285), negative regulation of mitotic cell cycle (GO:0045930)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
mitotic cell cycle	1
regulation of mitotic cell cycle	1
negative regulation of cell cycle	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTG3	CNOT8	Q9UFF9	636
BTG3	CNOT7	Q9UIV1	625
BTG3	CHODL	Q9H9P2	467
BTG3	NCAM2	O15394	451
BTG3	PI4K2B	Q8TCG2	409
BTG3	FBXL5	Q9UKA1	408
BTG3	C21orf91	Q9NYK6	392
BTG3	E2F1	Q01094	392
BTG3	GNG13	Q9P2W3	390
BTG3	NIPAL4	Q0D2K0	387
BTG3	PSPH	P78330	378
BTG3	YBX2	Q9Y2T7	377
BTG3	CTNS	O60931	375
BTG3	IFNG	P01579	371
BTG3	FOSL1	P15407	365

IntAct

111 interactions, top by confidence:

A	B	Type	Score
CNOT7	CNOT1	psi-mi:“MI:0914”(association)	0.880
CNOT6L	CNOT1	psi-mi:“MI:0914”(association)	0.810
CNOT11	CNOT1	psi-mi:“MI:0914”(association)	0.770
CNOT3	CNOT1	psi-mi:“MI:0914”(association)	0.740
E2F1	BTG3	psi-mi:“MI:0407”(direct interaction)	0.600
E2F1	BTG3	psi-mi:“MI:0915”(physical association)	0.600
BTG3	E2F1	psi-mi:“MI:0915”(physical association)	0.600
CNOT10	CNOT1	psi-mi:“MI:0914”(association)	0.530
FANCD2OS	CNOT1	psi-mi:“MI:0914”(association)	0.530
RIBC1	CNOT1	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
Cnot3	CNOT1	psi-mi:“MI:0915”(physical association)	0.400
BTG3	TMLHE	psi-mi:“MI:0915”(physical association)	0.400
CNOT1	IBTK	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
BLK	CNOT1	psi-mi:“MI:0914”(association)	0.350
UHMK1	CNOT1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
NANOS2	CNOT1	psi-mi:“MI:0914”(association)	0.350
TEX13A	CNOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (110): BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-Western), BTG3 (Proximity Label-MS), BTG3 (Proximity Label-MS), BTG3 (Proximity Label-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS), BTG3 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LFM6, A2APA5, A6H754, A6NKT7, A8MZ97, C5DZR8, E9Q555, H3BTG2, O14715, O39519, O43310, O88677, P0CAX8, P25049, P33802, P50615, Q14201, Q14CH0, Q2KIK3, Q3SZY8, Q4R309, Q4V9P3, Q5CCK0, Q5JX69, Q5JX71, Q5R7R7, Q5RA87, Q5RBQ2, Q5RF07, Q5XIC3, Q60664, Q7L3B6, Q7Z3J3, Q8BLN6, Q8K190, Q8N0W7, Q8N2C7, Q90YM4, Q91VT8, Q95JR4

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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	7	46.6×	2e-08
Deadenylation of mRNA	7	39.4×	5e-08
M-decay: degradation of maternal mRNAs by maternally stored factors	8	33.5×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
nuclear-transcribed mRNA poly(A) tail shortening	7	57.9×	1e-08
regulatory ncRNA-mediated gene silencing	5	34.8×	1e-04
regulation of translation	5	11.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	41
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
147792	GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1	Pathogenic
564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	Pathogenic
816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	Pathogenic

SpliceAI

1655 predictions. Top by Δscore:

Variant	Effect	Δscore
21:17598674:A:AC	donor_gain	1.0000
21:17598675:C:CC	donor_gain	1.0000
21:17598612:GTTAC:G	donor_loss	0.9900
21:17598613:TTA:T	donor_loss	0.9900
21:17598614:TACCT:T	donor_loss	0.9900
21:17598615:A:T	donor_loss	0.9900
21:17598616:CC:C	donor_loss	0.9900
21:17598663:T:TA	donor_gain	0.9900
21:17598748:T:A	donor_gain	0.9900
21:17598823:ACCTA:A	acceptor_loss	0.9900
21:17598824:CCTAA:C	acceptor_loss	0.9900
21:17598825:C:CA	acceptor_loss	0.9900
21:17598826:T:C	acceptor_loss	0.9900
21:17611674:C:CA	donor_gain	0.9900
21:17611703:T:TA	donor_gain	0.9900
21:17612678:T:A	donor_gain	0.9900
21:17612693:CCTCA:C	donor_loss	0.9900
21:17612694:CTCAC:C	donor_loss	0.9900
21:17612695:TCACC:T	donor_loss	0.9900
21:17612696:CACC:C	donor_loss	0.9900
21:17612697:ACCG:A	donor_gain	0.9900
21:17612698:CCG:C	donor_gain	0.9900
21:17612698:CCGC:C	donor_gain	0.9900
21:17594331:ATCT:A	acceptor_loss	0.9800
21:17594332:TCTG:T	acceptor_loss	0.9800
21:17594333:C:CC	acceptor_gain	0.9800
21:17594333:C:CG	acceptor_loss	0.9800
21:17594334:T:G	acceptor_loss	0.9800
21:17598611:GGTTA:G	donor_loss	0.9800
21:17598617:C:A	donor_loss	0.9800

AlphaMissense

1670 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:17598795:A:T	V114D	1.000
21:17598800:G:C	F112L	1.000
21:17598800:G:T	F112L	1.000
21:17598802:A:G	F112L	1.000
21:17604860:C:G	R104P	1.000
21:17604878:G:A	P98L	1.000
21:17604878:G:T	P98Q	1.000
21:17604879:G:A	P98S	1.000
21:17604879:G:T	P98T	1.000
21:17604881:T:A	D97V	1.000
21:17604881:T:C	D97G	1.000
21:17604886:C:A	W95C	1.000
21:17604886:C:G	W95C	1.000
21:17604887:C:G	W95S	1.000
21:17604888:A:G	W95R	1.000
21:17604888:A:T	W95R	1.000
21:17604890:A:G	L94P	1.000
21:17604890:A:T	L94H	1.000
21:17604896:A:G	L92P	1.000
21:17604908:A:G	L88S	1.000
21:17604956:A:T	V72D	1.000
21:17604982:A:C	N63K	1.000
21:17604982:A:T	N63K	1.000
21:17604989:C:G	R61P	1.000
21:17604990:G:T	R61S	1.000
21:17604992:A:T	I60N	1.000
21:17604994:A:C	C59W	1.000
21:17604995:C:T	C59Y	1.000
21:17604996:A:G	C59R	1.000
21:17604997:T:A	R58S	1.000

dbSNP variants (sampled 300 via entrez): RS1000020256 (21:17610560 T>A,C), RS1000102016 (21:17604461 A>G), RS1000125191 (21:17603767 T>C), RS1000191305 (21:17602234 G>T), RS1000334121 (21:17597513 G>A,C), RS1000558208 (21:17605477 T>C), RS1000637090 (21:17599030 T>C), RS1001233309 (21:17610991 A>G), RS1001249808 (21:17593505 T>C), RS1001408587 (21:17597560 G>A,C), RS1001427382 (21:17604668 C>T), RS1001454561 (21:17605514 G>A), RS1001521799 (21:17597958 G>A,C), RS1001791514 (21:17604157 G>A), RS1001858668 (21:17599639 C>T)

Disease associations

OMIM: gene MIM:605674 | 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
GCST006951_21	Feeling hurt	4.000000e-09
GCST009216_10	Corpus callosum central volume	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009599	feeling emotionally hurt measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	7
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	6
methylmercuric chloride	increases expression	3
Cyclosporine	increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases expression	3
sodium arsenite	affects methylation, increases expression	2
Decitabine	increases expression, affects expression, decreases methylation	2
Acetaminophen	decreases expression, increases expression	2
Cisplatin	affects expression, increases expression	2
Doxorubicin	affects response to substance, decreases expression, affects cotreatment	2
Estradiol	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
Paclitaxel	affects cotreatment, affects response to substance, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
methylselenic acid	increases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases abundance, increases expression	1
ferrous chloride	increases expression	1
cupric chloride	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
mercuric bromide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
deguelin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1

Clinical trials (associated diseases)

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