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  2. STXBP2 - syntaxin binding protein 2 Gene

STXBP2 - syntaxin binding protein 2 Gene

中文名称:突触融合蛋白结合蛋白 2

种属: Homo sapiens

同用名: FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; unc-18B; MUNC18-2

基因 ID: 6813 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 STXBP/unc-18/SEC1 家族的成员。编码的蛋白质参与细胞内运输、SNARE (可溶性 NSF 附着蛋白受体) 复合物组装的控制以及自然杀伤细胞释放细胞毒性颗粒。该基因的突变与家族性噬血细胞性淋巴组织细胞增生症有关。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19804848 GOA
enables syntaxin-3 binding IPI
IPI: 通过物理相互作用推断
18588921 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in leukocyte mediated cytotoxicity IMP
IMP: 通过突变表型推断
19884660 GOA
involved in neutrophil degranulation IEP
IEP: 通过表达模式推断
18588921 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in azurophil granule IDA
IDA: 通过直接分析推断
18588921 GOA
located in cytolytic granule IDA
IDA: 通过直接分析推断
19804848 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18588921 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18588921 GOA
located in specific granule IDA
IDA: 通过直接分析推断
18588921 GOA
located in tertiary granule IDA
IDA: 通过直接分析推断
18588921 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

STXBP2 蛋白结构

Sec1

Sec1: Sec1 family (28 - 580)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 593 a.a.
蛋白主名 其他名称

syntaxin-binding protein 2

protein unc-18 homolog B

STXBP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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