TOR2A

Summary

TOR2A (torsin family 2 member A, HGNC:11996) is a protein-coding gene on chromosome 9q34.11, encoding Torsin-2A (Q5JU69). It is a selective cancer dependency (DepMap: 24.9% of cell lines).

This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity.

Source: NCBI Gene 27433 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 76 total
• Cancer dependency (DepMap): dependent in 24.9% of screened cell lines
• MANE Select transcript: NM_001085347

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11996
Approved symbol	TOR2A
Name	torsin family 2 member A
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14771, TORP1
Ensembl gene	ENSG00000160404
Ensembl biotype	protein_coding
OMIM	608052
Entrez	27433

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000336067, ENST00000373281, ENST00000373284, ENST00000463256, ENST00000463577, ENST00000472723, ENST00000493439, ENST00000494135, ENST00000496460, ENST00000862308, ENST00000862309, ENST00000951408

RefSeq mRNA: 7 — MANE Select: NM_001085347 NM_001085347, NM_001134430, NM_001134431, NM_001252018, NM_001252021, NM_001252023, NM_130459

CCDS: CCDS43879, CCDS48024, CCDS48025, CCDS6876

Canonical transcript exons

ENST00000373284 — 5 exons

Exon	Start	End
ENSE00001052029	127734299	127734564
ENSE00003533188	127733385	127733560
ENSE00003570463	127732564	127732691
ENSE00003680991	127731524	127732278
ENSE00003758337	127735120	127735294

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 94.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.5109 / max 237.9970, expressed in 1811 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102559	18.9070	1811
102558	2.6039	1340

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.25	gold quality
granulocyte	CL:0000094	92.20	gold quality
monocyte	CL:0000576	89.77	gold quality
leukocyte	CL:0000738	89.73	gold quality
mucosa of transverse colon	UBERON:0004991	87.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.48	gold quality
secondary oocyte	CL:0000655	87.33	gold quality
left testis	UBERON:0004533	86.97	gold quality
right testis	UBERON:0004534	86.94	gold quality
blood	UBERON:0000178	85.76	gold quality
spleen	UBERON:0002106	85.55	gold quality
testis	UBERON:0000473	84.90	gold quality
lower esophagus mucosa	UBERON:0035834	84.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.52	gold quality
cerebellar hemisphere	UBERON:0002245	83.89	gold quality
cerebellar cortex	UBERON:0002129	83.75	gold quality
sperm	CL:0000019	83.60	gold quality
transverse colon	UBERON:0001157	83.33	gold quality
bone marrow cell	CL:0002092	82.75	gold quality
body of stomach	UBERON:0001161	82.74	gold quality
right lobe of liver	UBERON:0001114	82.39	gold quality
cerebellum	UBERON:0002037	82.38	gold quality
ileal mucosa	UBERON:0000331	82.27	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.06	gold quality
right adrenal gland	UBERON:0001233	82.00	gold quality
right adrenal gland cortex	UBERON:0035827	81.82	gold quality
left adrenal gland	UBERON:0001234	81.57	gold quality
left adrenal gland cortex	UBERON:0035825	81.04	gold quality
ventricular zone	UBERON:0003053	80.96	gold quality
esophagus mucosa	UBERON:0002469	80.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting TOR2A, 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-4682	100.00	68.89	1258
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-513B-5P	99.99	69.96	2150
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-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-4651	99.06	67.57	2002

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 24.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 35)

• the identification and characterization of two related peptides of 28 and 20 amino acids, which we designated salusin-alpha and salusin-beta. Salusins are translated from an alternatively spliced mRNA of TOR2A (PMID:12910263)
• Human salusin beta is a surrogate ligand of mouse MrgA1. (PMID:16697365)
• Decrease in serum salusin-alpha, an anti-atherogenic peptide, may be associated with carotid atherosclerosis in hypertensive patients. (PMID:18497465)
• salusin-alpha is biosynthesized and released from human-derived cells. (PMID:18804130)
• Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia. (PMID:19761814)
• Salusin-beta accelerates the development of atherosclerotic lesions in APOE knockout mice whilst salusin-alpha exerts anti-atherosclerotic effects. (PMID:20684826)
• There was no positive relationship between serum salusin-alpha and salusin-beta levels and preeclampsia. (PMID:22533552)
• Salusins, newly identified regulators of hemodynamics and mitogenesis, are increased within the serum of women with polycystic ovary syndrome. (PMID:22827297)
• The Salusin-alpha, salusin-beta are locally synthesized in the arteries and veins and might be important markers in the cardiopulmonary bypass. (PMID:22884920)
• salusin-alpha might serve as a potential biomarker for predicting the development and progression of coronary artery disease. (PMID:23611255)
• Human circulating salusin-beta, is a potent hemodynamics and atherogenesis regulator. (PMID:24098553)
• the mechanism of salusins in atherosclerosis (PMID:24621517)
• Salusin-beta is an antimicrobial peptide with potent antibacterial activity against Gram-positive microorganisms. (PMID:24881665)
• circulating salusin-beta levels are suppressed following physiological parasympathetic stimulation and appear to constitute a negative feedback relationship with the parasympathetic nervous system (PMID:25063054)
• Salusin-beta but not saluin-alpha is able to promote inflammatory responses in human umbilical vein endothelial cells. (PMID:25210730)
• Serum salusin-Beta levels were associated with the presence and severity of coronary artery disease. (PMID:25730454)
• Plasma salusin-alpha and salusin-beta levels are increased in endometrioma patients and positively correlated with endometrioma size. (PMID:26008602)
• These results demonstrate contrasting actions of salusin-beta in the control of water intake via the central and peripheral systems and highlight it as a potent endogenous antidipsogenic neuropeptide. (PMID:26869388)
• Study provides evidence results that salusin-beta induces foam formation and monocyte adhesion via miR155/NOX2/NFkappaB-mediated ACAT-1 and VCAM-1 expressions in vascular smooth muscle cells. (PMID:27004848)
• Overexpression of salusin-beta is associated with ovarian cancer. (PMID:28184918)
• Salusin-beta mediates high glucose-induced endothelial injury via disruption of AMPK signaling pathway. (PMID:28647373)
• the effects of salusin-alpha on the expression of some pro- and anti-inflammatory cytokines and on TNF-alpha-induced inflammatory responses in human umbilical vein endothelial cells (HUVECs) were examined (PMID:29223158)
• Increased expression of salusin-beta is associated with Diabetes Mellitus-Induced Endothelial Dysfunction. (PMID:29359008)
• results demonstrate the novel role of salusin-beta in the central nervous system and salusin-beta can be used as a novel therapeutic to effectively treat Parkinson’s disease (PMID:30017195)
• Salusin-beta mediates tubular cell apoptosis in acute kidney injury: Involvement of the PKC/ROS signaling pathway. (PMID:31884071)
• Salusin-beta is superior to salusin-alpha as a marker for evaluating coronary atherosclerosis. (PMID:32054363)
• Assessment of salusin alpha and salusin beta levels in patients with newly diagnosed dipper and non-dipper hypertension. (PMID:32723189)
• The importance of circulating levels of salusin-alpha, salusin-beta, and heregulin-beta1 in atherosclerotic coronary arterial disease. (PMID:33031820)
• Serum salusin-beta in relation to atherosclerosis and ventricular dysfunction in patients with type 2 diabetes mellitus. (PMID:33113473)
• Evaluation of salusin-alpha and salusin-beta levels in patients with type 2 diabetes mellitus and determination of the impact of severity of hyperglycemia on salusin levels. (PMID:34109528)
• Downregulation of Salusin-beta protects renal tubular epithelial cells against high glucose-induced inflammation, oxidative stress, apoptosis and lipid accumulation via suppressing miR-155-5p. (PMID:34482798)
• Use of salusin beta for predicting atherosclerosis and components of the metabolic syndrome. (PMID:37386856)
• Overexpression of salusin-beta downregulates adipoR1 expression to prevent fatty acid oxidation in HepG2 cells. (PMID:38063230)
• TOR2A Variants in Blepharospasm. (PMID:38076033)
• Salusin-alpha alleviates lipid metabolism disorders via regulation of the downstream lipogenesis genes through the LKB1/AMPK pathway. (PMID:38963051)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	tor2a	ENSDARG00000100559
mus_musculus	Tor2a	ENSMUSG00000009563
rattus_norvegicus	Tor2a	ENSRNOG00000022514
drosophila_melanogaster	Torsin	FBGN0025615
caenorhabditis_elegans		WBGENE00003870
caenorhabditis_elegans		WBGENE00006597
caenorhabditis_elegans		WBGENE00006598

Paralogs (4): TOR1B (ENSG00000136816), TOR1A (ENSG00000136827), TOR3A (ENSG00000186283), TOR4A (ENSG00000198113)

Protein

Protein identifiers

Torsin-2A — Q5JU69 (reviewed: Q5JU69, Q8N2E6)

Alternative names: Torsin family 2 member A, Torsin-related protein 1

All UniProt accessions (2): Q5JU69, Q8N2E6

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Homohexamer. Interacts with TOR1AIP1.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues.

Similarity. Belongs to the ClpA/ClpB family. Torsin subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5JU69-1	1	yes
Q5JU69-2	2
Q5JU69-5	3
Q8N2E6-1	4

RefSeq proteins (7): NP_001078816, NP_001127902, NP_001127903, NP_001238947, NP_001238950, NP_001238952, NP_569726 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001270	ClpA/B	Family
IPR003593	AAA+_ATPase	Domain
IPR010448	Torsin	Family
IPR017378	Torsin_1/2	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR049337	TOR1A_C	Domain

Pfam: PF06309, PF21376

UniProt features (20 total): splice variant 4, signal peptide 2, chain 2, binding site 2, glycosylation site 2, peptide 2, sequence variant 1, sequence conflict 1, propeptide 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JU69-F1	88.52	0.80
AF-Q8N2E6-F1	79.17	0.56

Functional residue map

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

Q5JU69 (canonical)

Ligand- & substrate-binding residues (1): 93–100

Glycosylation sites (1): 149

Q8N2E6

Ligand- & substrate-binding residues (1): 93–100

Post-translational modifications (1): 241

Glycosylation sites (1): 149

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, MARTINEZ_RB1_TARGETS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_POSITIVE_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT

GO Biological Process (2): signal transduction (GO:0007165), obsolete chaperone cofactor-dependent protein refolding (GO:0051085)

GO Molecular Function (5): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), identical protein binding (GO:0042802), hormone activity (GO:0005179), nucleotide binding (GO:0000166)

GO Cellular Component (4): nuclear envelope (GO:0005635), endoplasmic reticulum lumen (GO:0005788), extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
protein binding	1
receptor ligand activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleus	1
organelle envelope	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TOR2A	PAM	P19021	826
TOR2A	TOR1AIP2	Q8NFQ8	654
TOR2A	REEP4	Q9H6H4	579
TOR2A	HS1BP3	Q53T59	551
TOR2A	TOR1AIP1	Q5JTV8	532
TOR2A	PTRH1	Q86Y79	520
TOR2A	PPP1R26	Q5T8A7	493
TOR2A	PTH2	Q96A98	479
TOR2A	FAM81A	Q8TBF8	463
TOR2A	EFCAB5	A4FU69	457
TOR2A	GPR152	Q8TDT2	454
TOR2A	TMEM134	Q9H6X4	450
TOR2A	PTPN20	Q4JDL3	438
TOR2A	NMS	Q5H8A3	432
TOR2A	RNF170	Q96K19	411

IntAct

20 interactions, top by confidence:

A	B	Type	Score
CTBP1	CBX4	psi-mi:“MI:0914”(association)	0.700
ZNF707	ZNF316	psi-mi:“MI:0914”(association)	0.530
TOR1A	CLGN	psi-mi:“MI:0914”(association)	0.530
TOR1A	TOR1B	psi-mi:“MI:0914”(association)	0.530
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
ZNF708	OCM2	psi-mi:“MI:0914”(association)	0.350
LCN2	PTPRF	psi-mi:“MI:0914”(association)	0.350
TOR2A	HSPA5	psi-mi:“MI:0914”(association)	0.350
ALPI	RTCA	psi-mi:“MI:0914”(association)	0.350
ZNF707	LRP4	psi-mi:“MI:0914”(association)	0.350
ENOPH1	ACTA2	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
POLD3	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Synthetic Lethality), HSPA5 (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TTC19 (Affinity Capture-MS), TOR2A (Affinity Capture-MS), TOR2A (Affinity Capture-MS), GPR50 (Affinity Capture-MS)

ESM2 similar proteins: A0A4Z3, A1Y9I9, A4FUH1, B6CZ46, B6CZ56, B6CZ62, D3ZNQ3, G3V9Q9, O43505, O60512, O60909, O94766, P14616, P14617, P58158, Q09326, Q10469, Q2NKH9, Q2YDM8, Q3V1N9, Q3V5L5, Q4R5T7, Q5EA01, Q5EB73, Q5JU69, Q5M936, Q5NVN3, Q5R4S2, Q5R868, Q5YB40, Q5ZLK4, Q64716, Q6AYR4, Q765H6, Q7Z4J2, Q8BGT9, Q8BWP8, Q8IXK2, Q8NCL4, Q8R1J9

Diamond homologs: A4FUH1, O14656, O14657, O77277, P0C7W1, P0C7W2, P0C7W3, Q5JU69, Q5M936, Q60HG2, Q68F68, Q68G38, Q6AYR4, Q8N2E6, Q8R1J9, Q95NU5, Q9ER38, Q9ER39, Q9ER41, Q9ERA9, Q9H497, Q568B8, Q8BH02

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

872 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127732274:GCCAT:G	acceptor_gain	1.0000
9:127732275:CCAT:C	acceptor_gain	1.0000
9:127732275:CCATC:C	acceptor_gain	1.0000
9:127732276:CAT:C	acceptor_gain	1.0000
9:127732276:CATC:C	acceptor_gain	1.0000
9:127732279:C:CC	acceptor_gain	1.0000
9:127732279:CT:C	acceptor_loss	1.0000
9:127732560:TCACG:T	donor_loss	1.0000
9:127732561:CAC:C	donor_loss	1.0000
9:127732562:A:AC	donor_gain	1.0000
9:127732563:C:CT	donor_gain	1.0000
9:127732563:CG:C	donor_gain	1.0000
9:127732563:CGG:C	donor_gain	1.0000
9:127732563:CGGT:C	donor_gain	1.0000
9:127732563:CGGTG:C	donor_gain	1.0000
9:127732687:TGTTG:T	acceptor_gain	1.0000
9:127732688:GTTG:G	acceptor_gain	1.0000
9:127732689:TTG:T	acceptor_gain	1.0000
9:127732690:TG:T	acceptor_gain	1.0000
9:127732692:C:CC	acceptor_gain	1.0000
9:127732699:CA:C	acceptor_gain	1.0000
9:127733381:CCACC:C	donor_loss	1.0000
9:127733384:C:CT	donor_loss	1.0000
9:127733428:C:CT	donor_gain	1.0000
9:127733429:C:CT	donor_gain	1.0000
9:127733463:T:TA	donor_gain	1.0000
9:127733556:TCCTT:T	acceptor_gain	1.0000
9:127733557:CCTTC:C	acceptor_gain	1.0000
9:127733558:CTT:C	acceptor_gain	1.0000
9:127733559:TT:T	acceptor_gain	1.0000

AlphaMissense

2077 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127734420:T:A	K99I	0.992
9:127733505:A:G	F158S	0.991
9:127732071:C:G	C310S	0.989
9:127732072:A:T	C310S	0.989
9:127734419:T:A	K99N	0.984
9:127734419:T:G	K99N	0.984
9:127733396:G:C	F194L	0.981
9:127733396:G:T	F194L	0.981
9:127733398:A:G	F194L	0.981
9:127732188:C:G	C271S	0.980
9:127732189:A:T	C271S	0.980
9:127733505:A:C	F158C	0.980
9:127734485:A:C	F77L	0.979
9:127734485:A:T	F77L	0.979
9:127734487:A:G	F77L	0.979
9:127734383:G:C	F111L	0.978
9:127734383:G:T	F111L	0.978
9:127734385:A:G	F111L	0.978
9:127734423:C:A	G98V	0.978
9:127734423:C:T	G98D	0.978
9:127733397:A:G	F194S	0.976
9:127733504:G:C	F158L	0.976
9:127733504:G:T	F158L	0.976
9:127733506:A:G	F158L	0.976
9:127733541:A:T	V146D	0.976
9:127735137:A:C	F45C	0.975
9:127732188:C:T	C271Y	0.974
9:127732221:A:G	F260S	0.974
9:127732067:C:A	K311N	0.973
9:127732067:C:G	K311N	0.973

dbSNP variants (sampled 300 via entrez): RS1000347414 (9:127734931 G>A,C), RS1000685973 (9:127736053 C>T), RS1000738076 (9:127735837 G>A), RS1002252579 (9:127735256 C>G,T), RS1002651053 (9:127735407 G>A,T), RS1002852261 (9:127735434 G>A,T), RS1002902878 (9:127735225 C>G), RS1002936734 (9:127732451 A>C,G), RS1003294939 (9:127732612 G>A,C), RS1003664211 (9:127733813 C>G,T), RS1004728757 (9:127733723 G>A), RS1004795887 (9:127732353 C>G,T), RS1005211197 (9:127736631 A>G), RS1005222539 (9:127736407 C>A,T), RS1006751653 (9:127735835 G>A)

Disease associations

OMIM: gene MIM:608052 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
vanadyl sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Cisplatin	increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Methotrexate	decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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