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Stxbp2 Gene Detail
Summary
  • Symbol
    Stxbp2
  • Name
    syntaxin binding protein 2
  • Synonyms
    C79054, Munc-18-2, Munc18b, Munc-18b, muSec1, Sxtp2
  • Feature Type
    protein coding gene
  • IDs
    MGI:107370
    NCBI Gene: 20911
  • Gene Overview
    MyGene.info: STXBP2
Location & Maps
more
Homology
more
  • Human Ortholog
    STXBP2, syntaxin binding protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    STXBP2, syntaxin binding protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FHL5, Hunc18b, MUNC18-2, pp10122, UNC18-2, UNC18B
  • Links
    NCBI Gene ID: 6813
    neXtProt AC: NX_Q15833

  • Chr Location
    19p13.2; chr19:7637101-7647874 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human STXBP2 associations

Human Disease Mouse Models
       Hemophagocytic Lymphohistiocytosis, Familial, 5; FHL5   OMIM: 613101
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    4 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Targeted
    5
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027109 VEGA Gene Model | MGI Sequence Detail 12690 C57BL/6J ±  kb
transcript OTTMUST00000067053 VEGA | MGI Sequence Detail 1847 Not Applicable  
polypeptide OTTMUSP00000033687 VEGA | MGI Sequence Detail 594 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    122 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • InterPro Domains
    IPR027482 Sec1-like, domain 2
    IPR001619 Sec1-like protein
Molecular
Reagents
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  • All nucleic 102
    cDNA 102

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-33866, MGD-MRK-35837, MGI:2142858
References
more
  • Summaries
    All 43
    Developmental Gene Expression 7
    Gene Ontology 9
    Phenotypes 4
  • Earliest
    J:23761 Katagiri H, et al., A novel isoform of syntaxin-binding protein homologous to yeast Sec1 expressed ubiquitously in mammalian cells. J Biol Chem. 1995 Mar 10;270(10):4963-6
  • Latest
    J:188931 Kim K, et al., Munc18b is an essential gene in mice whose expression is limiting for secretion by airway epithelial and mast cells. Biochem J. 2012 Sep 15;446(3):383-94

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory