STXBP4

Summary

STXBP4 (syntaxin binding protein 4, HGNC:19694) is a protein-coding gene on chromosome 17q22, encoding Syntaxin-binding protein 4 (Q6ZWJ1). Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane.

Enables syntaxin binding activity. Involved in several processes, including positive regulation of cell cycle G1/S phase transition; positive regulation of keratinocyte proliferation; and protein stabilization. Located in extracellular exosome.

Source: NCBI Gene 252983 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_178509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19694
Approved symbol	STXBP4
Name	syntaxin binding protein 4
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	Synip, MGC50337
Ensembl gene	ENSG00000166263
Ensembl biotype	protein_coding
OMIM	610415
Entrez	252983

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 3 retained_intron

ENST00000376352, ENST00000398391, ENST00000405898, ENST00000434978, ENST00000461444, ENST00000463234, ENST00000464340, ENST00000468837, ENST00000903181, ENST00000903182, ENST00000933366, ENST00000942650

RefSeq mRNA: 4 — MANE Select: NM_178509 NM_001398481, NM_001398482, NM_001398483, NM_178509

CCDS: CCDS11584, CCDS92360

Canonical transcript exons

ENST00000376352 — 18 exons

Exon	Start	End
ENSE00001101541	55007506	55007597
ENSE00001101552	55043236	55043325
ENSE00001334539	54985614	54985691
ENSE00001470263	55141310	55141367
ENSE00001470265	55081050	55081183
ENSE00001470267	55078686	55078735
ENSE00001470268	55078078	55078194
ENSE00001470270	55072900	55073076
ENSE00001470271	55047089	55047154
ENSE00001470279	54999632	54999842
ENSE00001470286	54968765	54968815
ENSE00002619217	55159797	55173632
ENSE00002779019	55000808	55000883
ENSE00003489745	55034168	55034259
ENSE00003534498	54986142	54986266
ENSE00003614231	54990825	54990957
ENSE00003622479	55031168	55031264
ENSE00003623818	54999345	54999451

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 88.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.6324 / max 432.6813, expressed in 1710 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161764	13.1614	1694
161763	1.4711	859

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	88.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.46	gold quality
adrenal tissue	UBERON:0018303	81.82	gold quality
calcaneal tendon	UBERON:0003701	81.13	gold quality
epithelial cell of pancreas	CL:0000083	81.08	silver quality
colonic epithelium	UBERON:0000397	80.29	gold quality
ventricular zone	UBERON:0003053	78.92	gold quality
ganglionic eminence	UBERON:0004023	77.73	gold quality
islet of Langerhans	UBERON:0000006	76.18	gold quality
sural nerve	UBERON:0015488	75.84	gold quality
pancreatic ductal cell	CL:0002079	75.73	silver quality
stromal cell of endometrium	CL:0002255	75.46	gold quality
smooth muscle tissue	UBERON:0001135	74.51	gold quality
gall bladder	UBERON:0002110	74.34	gold quality
cortical plate	UBERON:0005343	73.68	gold quality
right lung	UBERON:0002167	73.27	gold quality
bronchial epithelial cell	CL:0002328	73.21	gold quality
popliteal artery	UBERON:0002250	72.39	gold quality
tibial artery	UBERON:0007610	72.37	gold quality
descending thoracic aorta	UBERON:0002345	71.78	gold quality
bronchus	UBERON:0002185	71.73	gold quality
oviduct epithelium	UBERON:0004804	71.73	gold quality
aorta	UBERON:0000947	71.62	gold quality
bone marrow cell	CL:0002092	71.54	gold quality
thoracic aorta	UBERON:0001515	70.98	gold quality
ascending aorta	UBERON:0001496	70.95	gold quality
left ovary	UBERON:0002119	70.89	gold quality
left coronary artery	UBERON:0001626	70.64	gold quality
jejunal mucosa	UBERON:0000399	70.09	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.62
E-GEOD-111727	no	345.62
E-MTAB-6386	no	179.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

153 targeting STXBP4, 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-3613-3P	100.00	76.36	7965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-548AA	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 10)

• Syntaxin 4 and Synip (syntaxin 4 interacting protein) regulate insulin secretion in the pancreatic beta HC-9 cells (PMID:12855681)
• Stxbp4 and RACK1, two scaffold proteins, play central roles in balancing DeltaNp63 protein levels. While Stxbp4 functions to stabilize DeltaNp63 proteins, RACK1 targets DeltaNp63 for degradation. (PMID:19451233)
• meta-analysis suggested that polymorphism STXBP4/COX11 rs6504950 variant was significantly associated with breast cancer risk; the A allele of rs6504950 decreased the risk of breast cancer (PMID:22863968)
• Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. (PMID:27600471)
• Whole transcriptome sequencing followed by pathway analysis indicated that STXBP4 is involved in functional gene networks that regulate cell growth, proliferation, cell death, and survival in cancer. Platelet-derived growth factor receptor alpha (PDGFRalpha) was a key downstream mediator of STXBP4 function. In line with this, shRNA mediated STXBP4 and PDGFRA knockdown suppressed tumor growth in soft-agar and xenograft … (PMID:28087642)
• The deleterious SNPs localized in STXBP4 and ZNF404 genes were identified which might play a role in breast cancer development by dysregulating its gene expression. (PMID:28422318)
• High STXBP4 expression is associated with squamous cell carcinogenesis. (PMID:29735662)
• Low STXBP4 expression is associated with kidney cancer. (PMID:31782549)
• Distinctive roles of syntaxin binding protein 4 and its action target, TP63, in lung squamous cell carcinoma: a theranostic study for the precision medicine. (PMID:32993587)
• Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer. (PMID:35772352)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	stxbp4	ENSDARG00000076997
mus_musculus	Stxbp4	ENSMUSG00000020546
rattus_norvegicus	Stxbp4	ENSRNOG00000032768
caenorhabditis_elegans		WBGENE00001492
caenorhabditis_elegans		WBGENE00021406

Paralogs (5): LNX1 (ENSG00000072201), MPDZ (ENSG00000107186), PATJ (ENSG00000132849), LNX2 (ENSG00000139517), FRMPD2 (ENSG00000170324)

Protein

Protein identifiers

Syntaxin-binding protein 4 — Q6ZWJ1 (reviewed: Q6ZWJ1)

Alternative names: Syntaxin 4-interacting protein

All UniProt accessions (4): B5MCT9, E7EPP7, K7ESN8, Q6ZWJ1

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose.

Subunit / interactions. Interacts with STX4A.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated on Ser-99 by PKB/AKT2 after insulin treatment. Phosphorylation on Ser-99 abolishes the interaction with STX4A.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZWJ1-1	1	yes
Q6ZWJ1-2	2

RefSeq proteins (4): NP_001385410, NP_001385411, NP_001385412, NP_848604* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001202	WW_dom	Domain
IPR001478	PDZ	Domain
IPR036020	WW_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR051342	PDZ_scaffold	Family

Pfam: PF00397, PF00595

UniProt features (18 total): modified residue 5, splice variant 4, strand 3, domain 2, sequence variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2YSG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZWJ1-F1	70.04	0.32

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 (5): 10, 12, 99, 212, 463

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 182 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_KERATINOCYTE_PROLIFERATION, GOBP_INSULIN_SECRETION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (11): protein targeting (GO:0006605), DNA damage response (GO:0006974), insulin receptor signaling pathway (GO:0008286), regulation of D-glucose transmembrane transport (GO:0010827), positive regulation of keratinocyte proliferation (GO:0010838), protein stabilization (GO:0050821), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178), cellular response to type II interferon (GO:0071346), positive regulation of cell cycle G1/S phase transition (GO:1902808), response to stress (GO:0006950), regulation of transport (GO:0051049)

GO Molecular Function (2): syntaxin binding (GO:0019905), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasmic vesicle (GO:0031410), phagocytic vesicle (GO:0045335), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
establishment of protein localization	1
cellular response to stress	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to insulin stimulus	1
regulation of transmembrane transport	1
D-glucose transmembrane transport	1
regulation of keratinocyte proliferation	1
keratinocyte proliferation	1
positive regulation of epithelial cell proliferation	1
regulation of protein stability	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion	1
regulation of cellular localization	1
response to type II interferon	1
cellular response to cytokine stimulus	1
cell cycle G1/S phase transition	1
positive regulation of cell cycle phase transition	1
regulation of cell cycle G1/S phase transition	1
response to stimulus	1
transport	1
regulation of localization	1
SNARE binding	1
binding	1
cytoplasm	1
intracellular vesicle	1
endocytic vesicle	1
extracellular vesicle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

978 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STXBP4	STX4	Q12846	955
STXBP4	SNAP23	O00161	781
STXBP4	SLC2A4	P14672	778
STXBP4	VAMP2	P19065	751
STXBP4	COX11	Q9Y6N1	603
STXBP4	AKT2	P31751	591
STXBP4	TOM1L1	O75674	565
STXBP4	SLC2A1	P11166	522
STXBP4	STXBP3	O00186	493
STXBP4	TXNDC16	Q9P2K2	460
STXBP4	ZNF404	Q494X3	445
STXBP4	DHX57	Q6P158	443
STXBP4	EXOC2	Q96KP1	441
STXBP4	TOX3	O15405	435
STXBP4	PCTP	Q9UKL6	432
STXBP4	SLC4A7	Q9Y6M7	432

IntAct

115 interactions, top by confidence:

A	B	Type	Score
RUBCN	BECN1	psi-mi:“MI:0914”(association)	0.920
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
PTPN14	YAP1	psi-mi:“MI:0914”(association)	0.810
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
CIT	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
LATS1	YWHAH	psi-mi:“MI:0914”(association)	0.670
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
ERP44	MEX3A	psi-mi:“MI:0914”(association)	0.530
TMEM171	THAP12	psi-mi:“MI:0914”(association)	0.530
FNDC11	AKR7A3	psi-mi:“MI:0914”(association)	0.530
LDLRAD4	WWP2	psi-mi:“MI:0914”(association)	0.530
CBFA2T3	CBFA2T2	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
WDTC1	TCP1	psi-mi:“MI:0914”(association)	0.530
STXBP4	PLK1	psi-mi:“MI:0914”(association)	0.530
CUEDC1	TOM1	psi-mi:“MI:0914”(association)	0.530
ABCC4	STXBP4	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF16	STXBP4	psi-mi:“MI:0407”(direct interaction)	0.440
ASIC3	STXBP4	psi-mi:“MI:0407”(direct interaction)	0.440
ATP2B4	STXBP4	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (123): STXBP4 (Two-hybrid), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Synthetic Growth Defect), STXBP4 (Proximity Label-MS), STXBP4 (Proximity Label-MS), STXBP4 (Proximity Label-MS), STXBP4 (Affinity Capture-MS), STXBP4 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A0JNW5, A2RSJ4, F4HRV8, O17482, O95876, P49021, P79457, Q08D51, Q28C33, Q3B7T1, Q3UD82, Q498F0, Q5H8C4, Q5JSH3, Q5JTW2, Q5QNQ6, Q5R9R1, Q5THJ4, Q5ZLG9, Q6BDS2, Q6GLR7, Q6GQV7, Q6INA9, Q6NRZ1, Q6NVE8, Q6ZMT4, Q6ZWJ1, Q709C8, Q80T23, Q80XK6, Q812E4, Q8BX70, Q8BXR9, Q8C5W4, Q8IWB9, Q8N3A8, Q8N7X0, Q8TDW5

Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
STXBP4	“down-regulates activity”	YAP1	binding
STXBP4	“up-regulates activity”	STX4	binding
AKT2	“down-regulates activity”	STXBP4	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3595 predictions. Top by Δscore:

Variant	Effect	Δscore
17:54986267:G:GG	donor_gain	1.0000
17:54986274:T:G	donor_gain	1.0000
17:54990953:ATAAG:A	donor_loss	1.0000
17:54990954:TAAG:T	donor_loss	1.0000
17:54990955:AAGGT:A	donor_loss	1.0000
17:54990956:AG:A	donor_loss	1.0000
17:54990957:GG:G	donor_loss	1.0000
17:54990958:G:C	donor_loss	1.0000
17:54990959:T:A	donor_loss	1.0000
17:54999447:TTGAG:T	donor_loss	1.0000
17:54999448:TGAG:T	donor_loss	1.0000
17:54999450:AGGTA:A	donor_loss	1.0000
17:54999452:GT:G	donor_loss	1.0000
17:54999453:T:G	donor_loss	1.0000
17:55000802:TCACA:T	acceptor_loss	1.0000
17:55000804:A:AG	acceptor_gain	1.0000
17:55000805:C:G	acceptor_gain	1.0000
17:55000805:CA:C	acceptor_loss	1.0000
17:55000806:A:AG	acceptor_gain	1.0000
17:55000806:A:AT	acceptor_loss	1.0000
17:55000807:G:GT	acceptor_gain	1.0000
17:55000807:GA:G	acceptor_gain	1.0000
17:55000807:GAT:G	acceptor_gain	1.0000
17:55000807:GATA:G	acceptor_gain	1.0000
17:55000807:GATAA:G	acceptor_gain	1.0000
17:55000881:CAGGT:C	donor_loss	1.0000
17:55000883:GGT:G	donor_loss	1.0000
17:55000884:GT:G	donor_loss	1.0000
17:55000885:T:A	donor_loss	1.0000
17:55043225:A:AG	acceptor_gain	1.0000

AlphaMissense

3601 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:54999355:T:C	L64S	0.998
17:54999378:T:C	S72P	0.997
17:54999420:G:C	A86P	0.996
17:54999367:A:G	D68G	0.995
17:54999657:T:C	F105L	0.994
17:54999659:C:A	F105L	0.994
17:54999659:C:G	F105L	0.994
17:54999352:G:C	R63P	0.993
17:54999376:T:A	V71D	0.993
17:55141324:T:A	W502R	0.993
17:55141324:T:C	W502R	0.993
17:54999367:A:C	D68A	0.992
17:54999373:T:A	L70H	0.992
17:54999658:T:C	F105S	0.992
17:55141333:G:C	A505P	0.992
17:55141357:T:C	Y513H	0.992
17:55141357:T:G	Y513D	0.992
17:54990875:T:C	L33P	0.991
17:54990949:T:C	C58R	0.990
17:54999382:T:A	V73D	0.990
17:55141358:A:C	Y513S	0.990
17:55159819:T:A	W524R	0.989
17:55159819:T:C	W524R	0.989
17:54999373:T:C	L70P	0.988
17:55159816:T:C	S523P	0.988
17:54999367:A:T	D68V	0.986
17:54990951:T:G	C58W	0.984
17:54999366:G:C	D68H	0.984
17:54999373:T:G	L70R	0.984
17:55078178:T:C	L430P	0.984

dbSNP variants (sampled 300 via entrez): RS1000005047 (17:55210559 C>T), RS1000018057 (17:55102311 G>A), RS1000026585 (17:55147026 G>A,C), RS1000031547 (17:55166457 C>T), RS1000051321 (17:55198934 C>A,G), RS1000068556 (17:55112108 T>TG), RS1000080205 (17:54992960 G>A,C), RS1000089688 (17:54984933 A>G), RS1000100390 (17:55078436 T>C), RS1000127082 (17:55154243 C>A), RS1000128026 (17:55078832 C>A,T), RS1000131836 (17:55065952 C>T), RS1000148884 (17:55065526 A>G), RS1000173203 (17:55119878 T>G), RS1000179616 (17:54992424 A>C)

Disease associations

OMIM: gene MIM:610415 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002541_113	Menarche (age at onset)	4.000000e-11
GCST002934_5	Zinc levels	9.000000e-07
GCST003542_23	Night sleep phenotypes	4.000000e-06
GCST005287_6	Intrinsic epigenetic age acceleration	6.000000e-09
GCST009066_29	Mosaic loss of chromosome Y (Y chromosome dosage)	3.000000e-10
GCST010797_17	Breast cancer, ovarian cancer or prostate cancer (pleiotropy)	4.000000e-16
GCST012051_2	Systolic blood pressure	5.000000e-07
GCST90002400_222	Plateletcrit	5.000000e-15

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0000473	epigenetic status
EFO:0022597	aging
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0006335	systolic blood pressure
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9303363	STXBP4		0.00	0

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	4
bisphenol S	affects cotreatment, increases methylation, decreases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
abrine	decreases expression	1
jinfukang	decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Caffeine	affects phosphorylation	1
Clorgyline	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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