STX2

Summary

STX2 (syntaxin 2, HGNC:3403) is a protein-coding gene on chromosome 12q24.33, encoding Syntaxin-2 (P32856). Essential for epithelial morphogenesis.

The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 2054 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure (Limited, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_194356

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3403
Approved symbol	STX2
Name	syntaxin 2
Location	12q24.33
Locus type	gene with protein product
Status	Approved
Aliases	EPM
Ensembl gene	ENSG00000111450
Ensembl biotype	protein_coding
OMIM	132350
Entrez	2054

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 9 nonsense_mediated_decay, 8 protein_coding, 1 retained_intron

ENST00000261653, ENST00000344271, ENST00000392373, ENST00000540889, ENST00000706278, ENST00000706279, ENST00000706280, ENST00000706281, ENST00000706282, ENST00000706283, ENST00000706284, ENST00000706285, ENST00000706286, ENST00000862174, ENST00000926398, ENST00000926399, ENST00000926400, ENST00000949060

RefSeq mRNA: 8 — MANE Select: NM_194356 NM_001351049, NM_001351050, NM_001351051, NM_001351052, NM_001413773, NM_001413775, NM_001980, NM_194356

CCDS: CCDS91778, CCDS9269, CCDS9270

Canonical transcript exons

ENST00000392373 — 11 exons

Exon	Start	End
ENSE00000853555	130827193	130827267
ENSE00000853556	130821689	130821788
ENSE00000903719	130812957	130813031
ENSE00000938278	130798525	130798635
ENSE00001202991	130839070	130839250
ENSE00001203001	130795995	130796120
ENSE00002243283	130789600	130791977
ENSE00003514922	130806982	130807090
ENSE00003582876	130801415	130801488
ENSE00003639477	130808631	130808704
ENSE00003653886	130801153	130801290

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 96.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.5758 / max 678.9864, expressed in 1784 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134178	17.5231	1782
134177	0.9715	583
134176	0.0812	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.64	gold quality
oocyte	CL:0000023	93.24	gold quality
sural nerve	UBERON:0015488	91.69	gold quality
right lung	UBERON:0002167	90.93	gold quality
stromal cell of endometrium	CL:0002255	90.77	gold quality
ganglionic eminence	UBERON:0004023	90.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.09	gold quality
lower esophagus	UBERON:0013473	90.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.46	gold quality
mucosa of stomach	UBERON:0001199	88.89	gold quality
right uterine tube	UBERON:0001302	88.84	gold quality
bronchial epithelial cell	CL:0002328	88.75	gold quality
ventricular zone	UBERON:0003053	88.51	gold quality
right atrium auricular region	UBERON:0006631	88.33	gold quality
spinal cord	UBERON:0002240	88.26	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.21	gold quality
tibial nerve	UBERON:0001323	88.16	gold quality
calcaneal tendon	UBERON:0003701	88.11	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.05	gold quality
tibial artery	UBERON:0007610	87.71	gold quality
popliteal artery	UBERON:0002250	87.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.60	gold quality
omental fat pad	UBERON:0010414	87.59	gold quality
left coronary artery	UBERON:0001626	87.57	gold quality
peritoneum	UBERON:0002358	87.55	gold quality
cardiac atrium	UBERON:0002081	87.49	gold quality
embryo	UBERON:0000922	87.41	gold quality
aorta	UBERON:0000947	87.39	gold quality
ascending aorta	UBERON:0001496	87.17	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.18
E-ENAD-17	no	204.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting STX2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-218-5P	99.93	72.22	2103

Literature-anchored findings (GeneRIF, showing 18)

• Munc18b binds to syntaxins 1A, 2, and 3 and regulates vesicle transport to the apical plasma membrane (PMID:12198139)
• These findings suggest that epimorphin contributes to repair of pulmonary fibrosis in nonspecific interstitial pneumonia, perhaps partly by inducing expression of matrix metalloproteinase 2, which is an important proteolytic factor in lung remodeling. (PMID:15651999)
• expression of SNAP-23 and syntaxin-2 on the extracellular surface of the platelet plasma membrane. (PMID:17485553)
• Inadequate epimorphin elicits an abnormal differentiation response in keratinocytes, and indicate a causal function of the epimorphin signaling gradient for the establishment of differentiated epidermal structure in the skin. (PMID:18273050)
• Homology with vesicle fusion mediator syntaxin-1a predicts determinants of epimorphin/syntaxin-2 function in mammary epithelial morphogenesis.( (PMID:19129200)
• Genetic variability in STXBP5 and STX2 affects both VWF concentration and activity in young individuals with premature arterial thrombosis. (PMID:21156930)
• EPM, secreted by activated stellate cells within stroma, promotes invasion and metastasis of hepatocellular cancer cells by activating MMP-9 expression through the FAK-ERK pathway. (PMID:22045676)
• Genetic variation in STX2 is associated with von Willebrand factor:Ag levels in patients diagnosed with type 1 von Willebrand Disease. (PMID:22792389)
• epimorphin modulates the signaling pathways mediated by EGFR for epidermal tissue organization (PMID:23219092)
• Epimorphin can revert ovarian cancer cells away from their mesenchymal phenotype and toward an epithelial phenotype. (PMID:24039787)
• Identify 3 loci associated with circulating tPA levels, the PLAT region, STXBP5, and STX2. Functional studies implicate a novel role for STXBP5 and STX2 in regulating tPA release. (PMID:24578379)
• The effects of HIV/HCV co-infection on hepatic fibrosis might be mediated in part by epimorphin (EPM). Strategies to limit the expression of EPM might represent a novel therapeutic approach to prevent the progression of hepatic fibrosis during HIV/HCV co-infection. (PMID:27362846)
• TGF-beta, bFGF and epimorphin in the extracellular microenvironment cooperatively affect HSF behaviors under the control of a highly sulfated chondroitin sulfate (PMID:28209294)
• he patient showed azoospermia, relatively small testes, and a mildly elevated follicle stimulating hormone level, but no additional clinical features. Testicular histology of the patient showed universal maturation arrest and multinucleated spermatocytes, which have also been observed in mice lacking Stx2. PCR-based cDNA screening revealed wildtype STX2 expression in various tissues including the testis (PMID:29570232)
• Munc134 mediates human neutrophil elastaseinduced airway mucin5AC hypersecretion by interacting with syntaxin2 (PMID:29767240)
• STX2 as a crucial modulator of the aggressive colorectal cancer phenotype. (PMID:29855462)
• STX2 drives colorectal cancer proliferation via upregulation of EXOSC4. (PMID:33075373)
• Plasma membrane flipping of Syntaxin-2 regulates its inhibitory action on insulin granule exocytosis. (PMID:36316316)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	stx2a	ENSDARG00000004618
danio_rerio	stx2b	ENSDARG00000068217
mus_musculus	Stx2	ENSMUSG00000029428
rattus_norvegicus	Stx2	ENSRNOG00000000936
drosophila_melanogaster	Syx1A	FBGN0013343
caenorhabditis_elegans		WBGENE00006798

Paralogs (12): STX7 (ENSG00000079950), STX1B (ENSG00000099365), STX4 (ENSG00000103496), STX1A (ENSG00000106089), STX12 (ENSG00000117758), STX16 (ENSG00000124222), STX11 (ENSG00000135604), STX17 (ENSG00000136874), STX5 (ENSG00000162236), STX3 (ENSG00000166900), TSNARE1 (ENSG00000171045), STX19 (ENSG00000178750)

Protein

Protein identifiers

Syntaxin-2 — P32856 (reviewed: P32856)

Alternative names: Epimorphin

All UniProt accessions (10): P32856, A0A994J596, A0A994J599, A0A994J5I9, A0A994J5V9, A0A994J7R2, A0A994J7R5, A0A994J835, A0A994J840, J3KNU7

UniProt curated annotations — full annotation on UniProt →

Function. Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.

Subunit / interactions. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent. Interacts with FER1L5.

Subcellular location. Membrane.

Similarity. Belongs to the syntaxin family.

Isoforms (3)

UniProt ID	Names	Canonical?
P32856-1	3	yes
P32856-2	1
P32856-3	2

RefSeq proteins (8): NP_001337978, NP_001337979, NP_001337980, NP_001337981, NP_001400702, NP_001400704, NP_001971, NP_919337* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000727	T_SNARE_dom	Domain
IPR006011	Syntaxin_N	Domain
IPR006012	Syntaxin/epimorphin_CS	Conserved_site
IPR010989	SNARE	Homologous_superfamily
IPR028671	STX2_SNARE	Domain
IPR045242	Syntaxin	Family

Pfam: PF00804, PF05739

UniProt features (12 total): sequence conflict 3, splice variant 2, sequence variant 2, chain 1, topological domain 1, transmembrane region 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P32856-F1	83.47	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 225 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_SINGLE_FERTILIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_MEMBRANE_BIOGENESIS, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_MEMBRANE_DOCKING, GTGCCTT_MIR506, GOBP_ECTODERM_DEVELOPMENT, GOBP_EXOCYTOSIS

GO Biological Process (12): intracellular protein transport (GO:0006886), exocytosis (GO:0006887), signal transduction (GO:0007165), acrosome reaction (GO:0007340), ectoderm development (GO:0007398), animal organ morphogenesis (GO:0009887), synaptic vesicle fusion to presynaptic active zone membrane (GO:0031629), cellular response to oxidative stress (GO:0034599), obsolete vesicle docking (GO:0048278), cornified envelope assembly (GO:1903575), vesicle-mediated transport (GO:0016192), membrane fusion (GO:0061025)

GO Molecular Function (6): SNARE binding (GO:0000149), structural molecule activity (GO:0005198), SNAP receptor activity (GO:0005484), identical protein binding (GO:0042802), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515)

GO Cellular Component (10): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), endomembrane system (GO:0012505), basolateral plasma membrane (GO:0016323), lamellipodium (GO:0030027), SNARE complex (GO:0031201), protein-containing complex (GO:0032991), intracellular membrane-bounded organelle (GO:0043231), presynaptic active zone membrane (GO:0048787), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	3
vesicle fusion to plasma membrane	2
cellular process	2
cellular anatomical structure	2
intracellular protein localization	1
protein transport	1
intracellular transport	1
vesicle-mediated transport	1
secretion by cell	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
membrane fusion involved in acrosome reaction	1
single fertilization	1
reproductive process	1
acrosomal vesicle exocytosis	1
tissue development	1
anatomical structure morphogenesis	1
animal organ development	1
synaptic vesicle exocytosis	1
synaptic vesicle membrane organization	1
response to oxidative stress	1
cellular response to chemical stress	1
protein-glutamine gamma-glutamyltransferase activity	1
plasma membrane organization	1
membrane assembly	1
transport	1
membrane organization	1
molecular_function	1
protein-macromolecule adaptor activity	1
membrane fusion	1
fusogenic activity	1
calcium ion binding	1
binding	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1
basal plasma membrane	1

Protein interactions and networks

STRING

1109 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STX2	SNAP23	O00161	995
STX2	VAMP2	P19065	968
STX2	ST8SIA2	Q92186	960
STX2	VAMP8	Q9BV40	959
STX2	VAMP3	Q15836	894
STX2	MDH2	P40926	856
STX2	NAPA	P54920	802
STX2	NAPG	Q99747	796
STX2	STXBP1	P61764	792
STX2	STXBP2	Q15833	776
STX2	VAMP1	P23763	770
STX2	VAMP7	P51809	750
STX2	SMAP2	Q8WU79	745
STX2	CFH	P08603	740
STX2	STXBP3	O00186	739

IntAct

22 interactions, top by confidence:

A	B	Type	Score
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
VAMP3	SNAP23	psi-mi:“MI:0914”(association)	0.670
	TMEM223	psi-mi:“MI:0914”(association)	0.350
STX2	NSF	psi-mi:“MI:0914”(association)	0.350
CERS6	NEMF	psi-mi:“MI:0914”(association)	0.350
SLC35A1	PGRMC2	psi-mi:“MI:0914”(association)	0.350
KCNK3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
AKT1	STX2	psi-mi:“MI:2364”(proximity)	0.270
BRAF	STX2	psi-mi:“MI:2364”(proximity)	0.270
FBXW7	STX2	psi-mi:“MI:2364”(proximity)	0.270
SMAD4	STX2	psi-mi:“MI:2364”(proximity)	0.270
SMARCA4	STX2	psi-mi:“MI:2364”(proximity)	0.270
STX2	EGFR	psi-mi:“MI:2364”(proximity)	0.270
STX2	PTPN11	psi-mi:“MI:2364”(proximity)	0.270
STX2	PTEN	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (103): STX2 (Affinity Capture-RNA), STX2 (Affinity Capture-RNA), STX2 (Affinity Capture-RNA), STX2 (Affinity Capture-MS), STX2 (Affinity Capture-Western), STX2 (Synthetic Growth Defect), STX2 (Affinity Capture-Western), SNAP23 (Affinity Capture-Western), VAMP8 (Affinity Capture-Western), STX2 (Affinity Capture-Western), SNAP23 (Two-hybrid), VAMP2 (Two-hybrid), VAMP3 (Two-hybrid), STX2 (Affinity Capture-Western), STX2 (Affinity Capture-Western)

ESM2 similar proteins: A8WVD0, O15400, O16000, O35526, O70257, O70439, P32850, P32851, P32856, P32867, P39926, P50279, P61264, P61265, P61266, P61267, P61268, P70452, Q00262, Q08849, Q08850, Q0VCI2, Q12846, Q13277, Q16623, Q16932, Q20024, Q24547, Q3SWZ3, Q3ZBT5, Q42374, Q59YF0, Q5R4L2, Q5R602, Q5TX47, Q64704, Q7XIE2, Q8N4C7, Q8R1Q0, Q8VZU2

Diamond homologs: A8WVD0, O16000, O35526, O75558, P32850, P32851, P32854, P32856, P50279, P61264, P61265, P61266, P61267, P61268, P70452, P91409, Q00262, Q08849, Q08850, Q12846, Q13277, Q16623, Q16932, Q20797, Q24547, Q3SWZ3, Q5R4L2, Q5TX47, Q64704, Q6F3B4, Q8R1Q0, Q9D3G5, G3V7P1, O14662, O15400, O64791, O65359, O70257, O70439, O94651

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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.

GO biological processes:

GO term	Partners	Fold	FDR
epidermal growth factor receptor signaling pathway	5	56.3×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2862 predictions. Top by Δscore:

Variant	Effect	Δscore
12:130798523:AC:A	donor_gain	1.0000
12:130798524:CC:C	donor_gain	1.0000
12:130798524:CCCTT:C	donor_gain	1.0000
12:130798634:CC:C	acceptor_gain	1.0000
12:130798634:CCCT:C	acceptor_gain	1.0000
12:130798635:CCT:C	acceptor_gain	1.0000
12:130798636:C:CC	acceptor_gain	1.0000
12:130798636:C:T	acceptor_gain	1.0000
12:130798637:T:C	acceptor_gain	1.0000
12:130798637:T:TC	acceptor_gain	1.0000
12:130801148:ACTAC:A	donor_loss	1.0000
12:130801150:TA:T	donor_loss	1.0000
12:130801151:ACCT:A	donor_loss	1.0000
12:130801171:AG:A	donor_gain	1.0000
12:130801172:G:C	donor_gain	1.0000
12:130801287:TAAT:T	acceptor_gain	1.0000
12:130801288:AAT:A	acceptor_gain	1.0000
12:130801289:AT:A	acceptor_gain	1.0000
12:130801291:C:CC	acceptor_gain	1.0000
12:130801292:T:C	acceptor_gain	1.0000
12:130801292:T:TC	acceptor_gain	1.0000
12:130801301:C:CT	acceptor_gain	1.0000
12:130801302:A:T	acceptor_gain	1.0000
12:130801413:A:AC	donor_gain	1.0000
12:130801414:C:CC	donor_gain	1.0000
12:130801414:CGT:C	donor_gain	1.0000
12:130806976:A:AC	donor_gain	1.0000
12:130806977:C:CC	donor_gain	1.0000
12:130806977:CTCA:C	donor_gain	1.0000
12:130806978:TCACT:T	donor_loss	1.0000

AlphaMissense

1929 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:130798596:C:G	A239P	0.999
12:130806996:C:G	R150P	0.999
12:130798575:C:G	A246P	0.998
12:130801238:C:G	R197P	0.998
12:130806990:A:G	L152P	0.998
12:130798554:C:G	A253P	0.997
12:130801173:C:G	A219P	0.997
12:130807023:C:G	R141P	0.997
12:130801183:G:C	F215L	0.996
12:130801183:G:T	F215L	0.996
12:130801185:A:G	F215L	0.996
12:130801217:A:G	L204P	0.996
12:130807005:C:G	R147P	0.996
12:130798616:A:T	I232K	0.995
12:130801260:C:G	A190P	0.995
12:130807017:C:G	R143P	0.995
12:130801256:A:G	L191P	0.994
12:130801424:G:C	F176L	0.994
12:130801424:G:T	F176L	0.994
12:130801426:A:G	F176L	0.994
12:130798595:G:T	A239D	0.993
12:130806997:G:T	R150S	0.993
12:130807080:A:G	L122P	0.993
12:130812984:C:G	A85P	0.993
12:130798604:A:T	V236D	0.992
12:130798616:A:C	I232R	0.992
12:130801461:A:G	L164P	0.992
12:130798574:G:T	A246D	0.991
12:130801239:G:T	R197S	0.991
12:130801425:A:C	F176C	0.991

dbSNP variants (sampled 300 via entrez): RS1000064882 (12:130791762 C>T), RS1000066994 (12:130814398 G>A), RS1000082508 (12:130834538 T>C), RS1000209543 (12:130812071 C>A,T), RS1000241608 (12:130821159 A>G), RS1000391833 (12:130817146 G>A), RS1000402694 (12:130815379 G>A,T), RS1000601233 (12:130801601 T>A,C), RS1000613539 (12:130809642 C>A), RS1000674427 (12:130804412 G>A), RS1000744962 (12:130835956 T>C), RS1000745201 (12:130816888 G>A), RS1000797803 (12:130821280 A>G), RS1000817490 (12:130836228 T>G), RS1000829268 (12:130806551 G>A)

Disease associations

OMIM: gene MIM:132350 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure	Limited	Autosomal recessive

Mondo (1): spermatogenic failure (MONDO:0004983)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002374_4	Plasma plasminogen activator levels	1.000000e-09
GCST005026_16	Initial pursuit acceleration in psychotic disorders	2.000000e-08
GCST007446_37	vWF levels	4.000000e-18
GCST007446_47	vWF levels	4.000000e-18
GCST007446_54	vWF levels	1.000000e-18
GCST007446_77	vWF levels	8.000000e-20
GCST009391_457	Metabolite levels	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008434	initial pursuit acceleration
EFO:0010522	phosphoenolpyruvic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Tetrachlorodibenzodioxin	decreases expression, decreases reaction	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
methylselenic acid	increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
arsenic disulfide	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Cycloheximide	decreases expression, decreases reaction	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Ketoconazole	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TR09	HAP1 STX2 (-) 1	Cancer cell line	Male
CVCL_TR10	HAP1 STX2 (-) 2	Cancer cell line	Male
CVCL_TR11	HAP1 STX2 (-) 3	Cancer cell line	Male
CVCL_TR12	HAP1 STX2 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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