Stxbp2 syntaxin binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stxbp2provided by MGI
Official Full Name: syntaxin binding protein 2provided by MGI
Primary source: MGI:MGI:107370
See related: Ensembl:ENSMUSG00000004626 AllianceGenome:MGI:107370
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sxtp2; Sxtbp2; Unc18b; muSec1; Munc18b; Unc18-2; Munc-18b; Munc-18-2
Summary: Enables syntaxin-1 binding activity and syntaxin-3 binding activity. Acts upstream of or within cellular response to interferon-gamma and exocytosis. Located in apical plasma membrane; phagocytic vesicle; and zymogen granule membrane. Is expressed in several structures, including brain; gut; respiratory system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 5. Orthologous to human STXBP2 (syntaxin binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum adult (RPKM 36.3), large intestine adult (RPKM 33.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 1.92 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (3680960..3693998)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (3630960..3643998)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STING activation in platelets aggravates septic thrombosis by enhancing platelet activation and granule secretion.
Title: STING activation in platelets aggravates septic thrombosis by enhancing platelet activation and granule secretion.
Syntaxin binding protein 2 in sertoli cells regulates spermatogonial stem cell maintenance through directly interacting with connexin 43 in the testes of neonatal mice.
Title: Syntaxin binding protein 2 in sertoli cells regulates spermatogonial stem cell maintenance through directly interacting with connexin 43 in the testes of neonatal mice.
results indicate that Munc18-2, but not Munc18-1 or Munc18-3, is essential for regulated exocytosis in platelets and platelet participation in thrombosis and hemostasis.
Title: Munc18-2, but not Munc18-1 or Munc18-3, regulates platelet exocytosis, hemostasis, and thrombosis.
Loss of Munc18-2/Stxbp2 recapitulated the pathologic features observed in patients with MUNC18-2 deficiency.
Title: Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.
observed an almost complete absence of exocytosis in Munc18-2-deficient MCs but intact exocytosis in MCs lacking Munc18-1 or Munc18-3
Title: Munc18-2, but not Munc18-1 or Munc18-3, controls compound and single-vesicle-regulated exocytosis in mast cells.
SNARE zippering requires activation by SNARE-like peptides in Sec1/Munc18 proteins
Title: SNARE zippering requires activation by SNARE-like peptides in Sec1/Munc18 proteins.
Munc18b as an essential gene that is a limiting component of the exocytic machinery of epithelial cells and mast cell.
Title: Munc18b is an essential gene in mice whose expression is limiting for secretion by airway epithelial and mast cells.
Munc18-1 and Munc18-2 display distinct subcellular compartmentalization and can coordinate the insulin exocytotic process differently as a consequence of the actual [Ca(2+)](i).
Title: Munc18-1 and Munc18-2 proteins modulate beta-cell Ca2+ sensitivity and kinetics of insulin exocytosis differently.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	TAS Traceable Author Statement more info	PubMed
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	ISO Inferred from Sequence Orthology more info
enables syntaxin-3 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-3 binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-3 binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte mediated cytotoxicity	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mast cell degranulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of mast cell degranulation	ISO Inferred from Sequence Orthology more info
involved_in vesicle docking involved in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in azurophil granule	ISO Inferred from Sequence Orthology more info
located_in cytolytic granule	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with secretory granule	ISO Inferred from Sequence Orthology more info
located_in specific granule	ISO Inferred from Sequence Orthology more info
located_in tertiary granule	ISO Inferred from Sequence Orthology more info
located_in zymogen granule membrane	IC Inferred by Curator more info	PubMed
located_in zymogen granule membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in zymogen granule membrane	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: syntaxin-binding protein 2

Names: protein unc-18 homolog 2; protein unc-18 homolog B; syntaxin binding protein Munc18-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001357168.1 → NP_001344097.1 syntaxin-binding protein 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC170806

UniProtKB/TrEMBL

Q99J48

Related

ENSMUSP00000004745.9, ENSMUST00000004745.9

Conserved Domains (1) summary

pfam00995
Location:29 → 574

Sec1; Sec1 family
NM_011503.5 → NP_035633.1 syntaxin-binding protein 2 isoform 2

See identical proteins and their annotated locations for NP_035633.1

Status: VALIDATED

Source sequence(s)

AK133419, BY247044, CO043581

Consensus CDS

CCDS22067.1

UniProtKB/Swiss-Prot

Q64324

UniProtKB/TrEMBL

Q548T0, Q99J48

Related

ENSMUSP00000125405.2, ENSMUST00000160708.8

Conserved Domains (1) summary

pfam00995
Location:29 → 573

Sec1; Sec1 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

3680960..3693998

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006508743.4 → XP_006508806.3 syntaxin-binding protein 2 isoform X1

UniProtKB/TrEMBL

Q99J48

Conserved Domains (1) summary

pfam00995
Location:38 → 552

Sec1; Sec1 family
XM_030243371.1 → XP_030099231.1 syntaxin-binding protein 2 isoform X2

UniProtKB/TrEMBL

Q99J48

Conserved Domains (1) summary

pfam00995
Location:38 → 551

Sec1; Sec1 family
XM_006508746.2 → XP_006508809.1 syntaxin-binding protein 2 isoform X5

See identical proteins and their annotated locations for XP_006508809.1

Conserved Domains (1) summary

pfam00995
Location:1 → 342

Sec1; Sec1 family
XM_030243376.1 → XP_030099236.1 syntaxin-binding protein 2 isoform X6

Conserved Domains (1) summary

pfam00995
Location:1 → 341

Sec1; Sec1 family
XM_030243375.2 → XP_030099235.1 syntaxin-binding protein 2 isoform X5

Conserved Domains (1) summary

pfam00995
Location:1 → 342

Sec1; Sec1 family
XM_017312632.3 → XP_017168121.1 syntaxin-binding protein 2 isoform X3

UniProtKB/TrEMBL

Q99J48

Conserved Domains (1) summary

pfam00995
Location:1 → 542

Sec1; Sec1 family
XM_030243373.2 → XP_030099233.1 syntaxin-binding protein 2 isoform X4

UniProtKB/TrEMBL

Q99J48

Conserved Domains (1) summary

pfam00995
Location:1 → 541

Sec1; Sec1 family
XM_011242046.3 → XP_011240348.1 syntaxin-binding protein 2 isoform X5

See identical proteins and their annotated locations for XP_011240348.1

Conserved Domains (1) summary

pfam00995
Location:1 → 342

Sec1; Sec1 family
XM_030243374.2 → XP_030099234.1 syntaxin-binding protein 2 isoform X5

Conserved Domains (1) summary

pfam00995
Location:1 → 342

Sec1; Sec1 family