STXBP2 - syntaxin binding protein 2 Gene

Also Known as FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; unc-18B; MUNC18-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6813

About STXBP2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,637,110-7,647,873 (from NCBI)

This gene has 23 transcripts (splice variants), 210 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 31.6), duodenum (RPKM 21.3) and 21 other tissues.

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 cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]

STXBP2 Products (4)

mRNA	Protein	Name
NM_001127396.3	NP_001120868.1	syntaxin-binding protein 2 isoform b
NM_001272034.2	NP_001258963.1	syntaxin-binding protein 2 isoform c
NM_001414484.1	NP_001401413.1	syntaxin-binding protein 2 isoform d
NM_006949.4	NP_008880.2	syntaxin-binding protein 2 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19804848	GOA
enables syntaxin-3 binding	IPI IPI: Inferred from physical interaction	18588921	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in leukocyte mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	19884660	GOA
involved in neutrophil degranulation	IEP IEP: Inferred from expression pattern	18588921	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in azurophil granule	IDA IDA: Inferred from direct assay	18588921	GOA
located in cytolytic granule	IDA IDA: Inferred from direct assay	19804848	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18588921	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18588921	GOA
located in specific granule	IDA IDA: Inferred from direct assay	18588921	GOA
located in tertiary granule	IDA IDA: Inferred from direct assay	18588921	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STXBP2 Protein Structure

Sec1

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
syntaxin-binding protein 2	protein unc-18 homolog B

STXBP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STXBP2	Q15833	STX11	Homo sapiens	O75558	Anti Tag CoIP	19884660
Intra	STXBP2	Q15833	STX11	Homo sapiens	O75558	Confocal	19804848
Intra	STXBP2	Q15833	STX11	Homo sapiens	O75558	Anti Tag CoIP	19804848

Cross: Cross-species interaction Intra: Intraspecies interaction

STXBP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89659	Unc18-2 Antibody (YA9003)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	FHL5 Hlh5 Hplh5 Hemophagocytic Lymphohistiocytosis, Familial, 5, Without Microvillus Inclusion Disease
Familial Hemophagocytic Lymphohistiocytosis 5	Fhl5 Hlh5 Hplh5 Lymphohistiocytosis, Hemophagocytic, Familial, Type 5
Hemophagocytic Lymphohistiocytosis, Familial, 1	Familial Hemophagocytic Lymphohistiocytosis Fhl Familial Erythrophagocytic Lymphohistiocytosis Hemophagocytic Syndrome FHL1 Hplh1 Hlh1 Fel Familial Hemophagocytic Lymphohistiocytosis 1 Primary Hemophagocytic Lymphohistiocytosis Familial Hlh Hlh Familial Hemophagocytic Lymphocytosis Hemophagocytic Lymphohistiocytosis, Familial Reticulosis, Familial Histiocytic Hemophagocytic Reticulosis, Familial Erythrophagocytic Lymphohistiocytosis, Familial Familial Histiocytic Reticulosis Familial Hemophagocytic Histiocytosis Familial Hemophagocytic Reticulosis Fhlh Hplh Primary Hemophagocytic Hymphohistiocytosis Genetic Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis Type 1
Hemophagocytic Lymphohistiocytosis	Lymphohistiocytosis, Hemophagocytic Haemophagocytic Syndrome Lymphohistiocytosis Hemophagocytic Hemophagocytic Syndrome Familial Hemophagocytic Lymphocytosis Histiocytoses Of Mononuclear Phagocytes Haemophagocytic Lymphohistiocytosis Nos
Autoinflammatory Syndrome
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Hemophagocytic Lymphohistiocytosis, Familial, 4	Familial Hemophagocytic Lymphohistiocytosis 4 FHL4 Hplh4 Hlh4 Lymphohistiocytosis, Hemophagocytic, Familial, Type 4
Lymphoproliferative Syndrome, X-Linked, 2	XLP2 Xiap Deficiency X-Linked Lymphoproliferative Syndrome 2 X-Linked Lymphoproliferative Disease Due To Xiap Deficiency Xiap-Related Lymphoproliferative Disease, X-Linked X-Linked Lymphoproliferative Syndrome Type 2 Xiap Deficiency Syndrome
Griscelli Syndrome	Chediak-Higashi-Like Syndrome Griscelli-Prunieras Syndrome Partial Albinism-Immunodeficiency Syndrome Griscelli Disease Gs Hypopigmentation Immunodeficiency Disease Partial Albinism With Immunodeficiency Immunodeficiency Syndrome With Hypopigmentation Hypopigmentation-Immunodeficiency Disease
Griscelli Syndrome, Type 2	Griscelli Syndrome Type 2 GS2 Griscelli Syndrome With Hemophagocytic Syndrome Partial Albinism And Immunodeficiency Syndrome Paid Syndrome Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome Griscelli-Prunieras Syndrome Type 2 Griscelli-Pruniéras Syndrome Type 2 Griscelli Syndrome 2
Lymphoproliferative Syndrome 1	LPFS1 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 Combined Immunodeficiency Due To Itk Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Itk Deficiency Itk Deficiency
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Chediak-Higashi Syndrome	CHS Chédiak-Higashi Syndrome Chediak - Steinbrinck Anomaly Chediak Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Oculocutaneous Albinism With Leukocyte Defect Chediak-Higashi Disease Chediak-Higashi-Steinbrink Syndrome
Osmotic Diarrhea
Lymphoproliferative Syndrome 2	Cd27 Deficiency LPFS2 Combined Immunodeficiency Due To Cd27 Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency
Congenital Diarrhea
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XMEN X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia Cid Due To Magt1 Deficiency Combined Immunodeficiency Due To Magt1 Deficiency X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia
Acute Hemorrhagic Encephalitis
Psoriasis 15	Psors15
Selective Immunoglobulin Deficiency Disease
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood	Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood Systemic Ebv-Positive T-Cell Lymphoma Of Childhood Systemic Ebv+ T-Cell Lymphoma Of Childhood
Hermansky-Pudlak Syndrome 2	HPS2 Hermansky Pudlak Syndrome 2 Platelet Defects And Oculocutaneous Albinism Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 2 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Dysgammaglobulinemia
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Hemophagocytic Lymphohistiocytosis, Familial, 3	Familial Hemophagocytic Lymphohistiocytosis 3 FHL3 Hplh3 Hlh3 Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Familial Intestinal Polyatresia Syndrome Fipa Gastrointestinal Defects And Immunodeficiency Syndrome Multiple Gastrointestinal Atresias Familial Isolated Pituitary Adenoma Intestinal Atresia, Multiple Multiple Intestinal Atresia GIDID1 Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Minat Gidid Meddra:10028210 Familial Isolated Pituitary Adenoma Syndrome Intestinal Atresia Multiple Combined Immunodeficiency-Enteropathy Spectrum Cid-Mia/Early-Onset Ibd Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Mia Gastrointestinal Defect And Immunodeficiency Syndrome Pituitary Adenoma Predisposition Pituitary Adenoma, Familial Isolated
Bare Lymphocyte Syndrome, Type Ii	Mhc Class Ii Deficiency Bare Lymphocyte Syndrome Major Histocompatibility Complex Class Ii Deficiency Bare Lymphocyte Syndrome 2 Bare Lymphocyte Syndrome Type 2 Severe Combined Immunodeficiency, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group C Bare Lymphocyte Syndrome, Type Ii, Complementation Group D Bare Lymphocyte Syndrome Type Ii Scid, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group A Bare Lymphocyte Syndrome, Type Ii, Complementation Group B Scid Due To Absent Class Ii Hla Antigens Hla Class 1 Deficiency Scid, Hla Class 2-Negative Bls Type Ii Bare Lymphocyte Syndrome Type 2, Complementation Group A Bare Lymphocyte Syndrome Type 2, Complementation Group E Severe Combined Immunodeficiency Bls, Type Ii Bls Bare Lymphocyte Syndrome, Type Ii, Complementation Group E Blsii Bls Type 1 Bls 2 Scid Due To Absence Of Class Ii Hla Antigens Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens Immunodeficiency By Defective Expression Of Mhc Class Ii BLS2 Bare Lymphocyte Syndrome Type Ii Complementation Group A Bare Lymphocyte Syndrome Type Ii Complementation Group B Bare Lymphocyte Syndrome Type Ii Complementation Group C Bare Lymphocyte Syndrome Type Ii Complementation Group D Bare Lymphocyte Syndrome Type Ii Complementation Group E Bls Ii Hereditary Mhc Class Ii Deficiency Hla Class Ii Deficient Combined Immunodeficiency Mhc-Ii Deficiency Scid Hla Class Ii-Negative Severe Combined Immunodeficiency Hla Class Ii-Negative Bl-2 Immunodeficiency By Defective Expression Of Hla Class 2 Hla Class 2-Negative Severe Combined Immunodeficiency
Pancytopenia
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13990	STXBP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	STXBP2	VGNC	VGNC:46960
Macaca mulatta	STXBP2	VGNC	VGNC:78050
Felis catus	STXBP2	VGNC	VGNC:65819
Bos taurus	STXBP2	VGNC	VGNC:35446
Rattus norvegicus	STXBP2	RGD	RGD:619967
Mus musculus	STXBP2	MGD	MGI:107370
Others	STXBP2	NCBI