Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6813
Gene name	Syntaxin binding protein 2
Gene symbol	STXBP2
Synonyms (NCBI Gene)	FHL5Hunc18bMUNC18-2UNC18-2UNC18Bpp10122unc-18B
Chromosome	19
Chromosome location	19p13.2
Summary	This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736587	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs121918540	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs121918541	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140148806	G>C	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice acceptor variant
rs148868283	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs370053399	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs756948868	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs773360200	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555768979	T>G	Pathogenic	Splice donor variant
rs1555769166	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568463402	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599395085	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599397070	CCCCTTCCGG>GA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599398298	GAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion

107

Show/Hide all (107)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020657	hsa-miR-155-5p	Proteomics	18668040
MIRT668356	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT668355	hsa-miR-5693	HITS-CLIP	23824327
MIRT668354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT668353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT668351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT668350	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT668349	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT668348	hsa-miR-3135b	HITS-CLIP	23824327
MIRT668347	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT668346	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT668345	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668344	hsa-miR-566	HITS-CLIP	23824327
MIRT668343	hsa-miR-4284	HITS-CLIP	23824327
MIRT668342	hsa-miR-3652	HITS-CLIP	23824327
MIRT668341	hsa-miR-4430	HITS-CLIP	23824327
MIRT668340	hsa-miR-4449	HITS-CLIP	23824327
MIRT668339	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT668338	hsa-miR-5698	HITS-CLIP	23824327
MIRT658150	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT658149	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658148	hsa-miR-1248	HITS-CLIP	23824327
MIRT658147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658146	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658145	hsa-miR-4297	HITS-CLIP	23824327
MIRT658144	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT658143	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT658142	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT658141	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658140	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT658139	hsa-miR-3674	HITS-CLIP	23824327
MIRT658138	hsa-miR-5096	HITS-CLIP	23824327
MIRT543273	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT543274	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT543272	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT543271	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT543270	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT543269	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT543268	hsa-miR-607	PAR-CLIP	21572407
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT668356	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT668355	hsa-miR-5693	HITS-CLIP	23824327
MIRT668354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT668353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT668351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT668350	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT668349	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT668348	hsa-miR-3135b	HITS-CLIP	23824327
MIRT668347	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT668346	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT668345	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668344	hsa-miR-566	HITS-CLIP	23824327
MIRT668343	hsa-miR-4284	HITS-CLIP	23824327
MIRT668342	hsa-miR-3652	HITS-CLIP	23824327
MIRT668341	hsa-miR-4430	HITS-CLIP	23824327
MIRT668340	hsa-miR-4449	HITS-CLIP	23824327
MIRT668339	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT668338	hsa-miR-5698	HITS-CLIP	23824327
MIRT658150	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT658149	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658148	hsa-miR-1248	HITS-CLIP	23824327
MIRT658147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658146	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658145	hsa-miR-4297	HITS-CLIP	23824327
MIRT658144	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT658143	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT658142	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT658141	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658140	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT658139	hsa-miR-3674	HITS-CLIP	23824327
MIRT658138	hsa-miR-5096	HITS-CLIP	23824327
MIRT543273	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT543274	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT543272	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT543271	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT543270	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT543269	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT543268	hsa-miR-607	PAR-CLIP	21572407
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT441430	hsa-miR-141-3p	PAR-CLIP	22100165
MIRT441429	hsa-miR-200a-3p	PAR-CLIP	22100165
MIRT441428	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT441427	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT441426	hsa-miR-4480	PAR-CLIP	22100165
MIRT441425	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT441424	hsa-miR-374b-5p	PAR-CLIP	22100165

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001909	Process	Leukocyte mediated cytotoxicity	IMP	19884660
GO:0005515	Function	Protein binding	IPI	19804848, 19884660, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	IDA	18588921
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18588921
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030348	Function	Syntaxin-3 binding	IBA
GO:0030348	Function	Syntaxin-3 binding	IEA
GO:0030348	Function	Syntaxin-3 binding	IPI	18588921
GO:0042581	Component	Specific granule	IDA	18588921
GO:0042582	Component	Azurophil granule	IDA	18588921
GO:0042589	Component	Zymogen granule membrane	IEA
GO:0043304	Process	Regulation of mast cell degranulation	ISS
GO:0043312	Process	Neutrophil degranulation	IEP	18588921
GO:0044194	Component	Cytolytic granule	IDA	19804848
GO:0045055	Process	Regulated exocytosis	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19056867, 23533145
GO:0070820	Component	Tertiary granule	IDA	18588921
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IBA

MIM	HGNC	e!Ensembl
601717	11445	ENSG00000076944

Q15833

Protein name

Syntaxin-binding protein 2 (Protein unc-18 homolog 2) (Unc18-2) (Protein unc-18 homolog B) (Unc-18B)

Protein function

Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that

PDB

4CCA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00995	Sec1	29 → 579	Sec1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.

Sequence

MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVED
INKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGR
SRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLC
ATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEKTRSQLLIMDRAADPV
SPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVS
KKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGS
VEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEE
NLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIK
DVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMG
GVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP

Sequence length

593

Interactions

View interactions

	Reactome
			Platelet degranulation Other interleukin signaling

1203

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs140148806, rs61736587	RCV002263594 RCV002262571
Colon adenocarcinoma	Pathogenic	rs140148806	RCV005894885
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs768725365, rs769717341, rs753879238, rs773917703, rs765763103, rs121918540, rs1467430023, rs140148806, rs61736587, rs773360200, rs141717050, rs921624651	RCV003317508 RCV005432870 RCV005409073 RCV004801217 RCV005930626 RCV005430925 RCV003995122 RCV000351372 RCV003226166 RCV003226346 RCV002509538 RCV002307673
Familial hemophagocytic lymphohistiocytosis 5	Pathogenic; Likely pathogenic	rs2031907358, rs768725365, rs2146226413, rs2031844309, rs760061071, rs769717341, rs2146220482, rs753879238, rs1158166238, rs2146216115, rs2512707947, rs773917703, rs779558314, rs2512700296, rs765763103 View all (64 more)	RCV001330339 RCV001542460 RCV001542461 RCV002047773 RCV001939413 RCV001942091 RCV001871443 RCV001884165 RCV001975105 RCV001916445 RCV002288388 RCV004571166 RCV003041346 RCV002603661 RCV002628666 RCV002576777 RCV002781272 RCV002791434 RCV002885452 RCV002872291 RCV002931913 RCV002971596 RCV003011797 RCV003059549 RCV000008308 RCV000008309 RCV003466423 RCV003463581 RCV003463582 RCV003463583 RCV003463584 RCV003463585 RCV003463586 RCV003463587 RCV003463589 RCV003463590 RCV003464653 RCV003464654 RCV003464655 RCV003464656 RCV003466424 RCV003466425 RCV003466426 RCV003466428 RCV003464657 RCV003530440 RCV003530927 RCV003531049 RCV003531051 RCV003531112 RCV003531046 RCV003531077 RCV003530959 RCV003530960 RCV003531209 RCV003531312 RCV003645414 RCV003645402 RCV003645450 RCV003645606 RCV003645802 RCV003645803 RCV003645849 RCV003645787 RCV003644566 RCV003644630 RCV003644799 RCV003837407 RCV003881390 RCV004555789 RCV004573682 RCV004573683 RCV004573684 RCV004573685 RCV000700702 RCV000024317 RCV003464116 RCV000647331 RCV000647328 RCV000684854 RCV000793904 RCV001063093 RCV001221186 RCV001244298
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE	Pathogenic	rs1599395085, rs2146217813, rs140148806	RCV000008312 RCV000008313 RCV001613072
Lung cancer	Pathogenic	rs140148806	RCV005894888
Malignant tumor of urinary bladder	Pathogenic	rs140148806	RCV005894886
STXBP2-related disorder	Pathogenic; Likely pathogenic	rs121918540, rs61736587	RCV003924815 RCV003398562
Thyroid cancer, nonmedullary, 1	Pathogenic	rs140148806	RCV005894887

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	association; Conflicting classifications of pathogenicity; Uncertain significance	rs35490401, rs768296460, rs200135215	RCV001270501 RCV001270552 RCV001270558
Acute myeloid leukemia	Benign; Likely benign	rs141309384	RCV005889780
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs141309384	RCV005889782
Cervical cancer	Benign; Likely benign; Uncertain significance	rs141309384, rs138007892	RCV005889783 RCV005900274
Clear cell carcinoma of kidney	Uncertain significance	rs138007892	RCV005900275
Familial cancer of breast	Likely benign; Benign	rs761135377, rs794073	RCV005925817 RCV005892851
Gastric cancer	Benign; Likely benign	rs141309384	RCV005889784
Lymphoma	Likely benign	rs1249361837	RCV005926393
Malignant tumor of esophagus	Benign; Likely benign	rs141309384	RCV005889781
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs141309384	RCV005889785
Thrombocytopenia	association; Conflicting classifications of pathogenicity; Uncertain significance	rs35490401, rs768296460, rs200135215	RCV001270501 RCV001270552 RCV001270558
Thymoma	Benign; Likely benign; Uncertain significance	rs141309384, rs372742473	RCV005889786 RCV005896878
Uterine corpus endometrial carcinoma	Uncertain significance	rs138007892	RCV005900276

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agammaglobulinemia	Associate	20558610
Arthritis Juvenile	Associate	25047945
Cholangiocarcinoma	Associate	35672673
Cholestasis	Associate	33162974
Colitis	Associate	20558610
COVID 19	Associate	36016321
Diarrhea	Associate	22451424
Drug Related Side Effects and Adverse Reactions	Associate	29599780
Epileptic Syndromes	Associate	32076423
Epstein Barr Virus Infections	Associate	25947952, 30782130
Glucosephosphate Dehydrogenase Deficiency	Associate	33162974
Hemophagocytic lymphohistiocytosis familial 4	Associate	24910990
Hemophagocytic Lymphohistiocytosis Familial 5	Associate	19804848, 20558610, 20798128, 22451424, 22791290, 22796692, 23687090, 26320718, 31651895, 33162974, 33593331
Hemorrhage	Associate	28399723
Histiocytosis Langerhans Cell	Associate	34630398
Hodgkin Disease	Associate	23100279
Immunologic Deficiency Syndromes	Associate	26771955
Infections	Associate	34630398
Inflammation	Associate	26320718
Leukemia Lymphoid	Associate	29599780
Lymphohistiocytosis Hemophagocytic	Associate	19804848, 19884660, 20558610, 20798128, 20823128, 21152410, 21881043, 22451424, 22796692, 23100279, 23287865, 24916509, 25233452, 25312756, 25564401 View all (17 more)
Lymphoma	Associate	20823128, 23100279
Macrophage Activation Syndrome	Associate	25047945, 36016321
Microvillus inclusion disease	Associate	26553929
Myocardial Infarction	Associate	28380445
Neoplasms	Associate	36119081
Neuroinflammatory Diseases	Associate	26381267
Parkinson Disease	Associate	26381267, 28086916
Primary Immunodeficiency Diseases	Associate	20823128, 38644452
Propping Zerres syndrome	Associate	30782130
Syndrome	Associate	34630398

STXBP2 (syntaxin binding protein 2)