STXBP2 - syntaxin binding protein 2 Gene

Homo sapiens

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

Gene ID: 6813 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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