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STXBP2 syntaxin binding protein 2 [ Homo sapiens (human) ]

Gene ID: 6813, updated on 14-Apr-2018
Official Symbol
STXBP2provided by HGNC
Official Full Name
syntaxin binding protein 2provided by HGNC
Primary source
HGNC:HGNC:11445
See related
Ensembl:ENSG00000076944 MIM:601717; Vega:OTTHUMG00000182396
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; MUNC18-2
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]
Expression
Ubiquitous expression in bone marrow (RPKM 31.6), duodenum (RPKM 21.3) and 21 other tissues See more
Orthologs
Location:
19p13.2
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (7637101..7647874)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7701987..7712760)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene XPA binding protein 2 Neighboring gene PET100 homolog Neighboring gene Purkinje cell protein 2 Neighboring gene ribosomal protein S27a pseudogene 19 Neighboring gene resistin

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of syntaxin binding protein 2 (STXBP2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
reverse transcriptase gag-pol Knockdown of syntaxin binding protein 2 (STXBP2) reduces the amount of reverse transcribed viral DNA, leading to inhibit HIV-1 replication in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin-1 binding IEA
Inferred from Electronic Annotation
more info
 
syntaxin-3 binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
leukocyte mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation IEP
Inferred from Expression Pattern
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of mast cell degranulation ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle docking involved in exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with SNARE complex IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
azurophil granule IDA
Inferred from Direct Assay
more info
PubMed 
cytolytic granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
specific granule IDA
Inferred from Direct Assay
more info
PubMed 
tertiary granule IDA
Inferred from Direct Assay
more info
PubMed 
zymogen granule membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
syntaxin-binding protein 2
Names
protein unc-18 homolog B
unc-18B

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.

Genomic

  1. NG_016709.1 RefSeqGene

    Range
    4997..15770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_165

mRNA and Protein(s)

  1. NM_001127396.2NP_001120868.1  syntaxin-binding protein 2 isoform b

    See identical proteins and their annotated locations for NP_001120868.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 3. The encoded isoform (b) is shorter than isoform c.
    Source sequence(s)
    AI571535, BC002869, BQ067493
    Consensus CDS
    CCDS45948.1
    UniProtKB/Swiss-Prot
    Q15833
    Related
    ENSP00000409471.1, OTTHUMP00000269172, ENST00000414284.6, OTTHUMT00000460965
    Conserved Domains (1) summary
    pfam00995
    Location:29570
    Sec1; Sec1 family
  2. NM_001272034.1NP_001258963.1  syntaxin-binding protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AI571535, AK303701, AU098728, BC002869, BQ067493
    Consensus CDS
    CCDS62522.1
    UniProtKB/Swiss-Prot
    Q15833
    Related
    ENSP00000413606.2, OTTHUMP00000269169, ENST00000441779.6, OTTHUMT00000460961
    Conserved Domains (1) summary
    pfam00995
    Location:29584
    Sec1; Sec1 family
  3. NM_006949.3NP_008880.2  syntaxin-binding protein 2 isoform a

    See identical proteins and their annotated locations for NP_008880.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3. The encoded isoform (a) is shorter than isoform c.
    Source sequence(s)
    AI571535, AK222967, BC002869, BQ067493, DA431480
    Consensus CDS
    CCDS12181.1
    UniProtKB/Swiss-Prot
    Q15833
    UniProtKB/TrEMBL
    Q53GF4
    Related
    ENSP00000221283.4, OTTHUMP00000269170, ENST00000221283.9, OTTHUMT00000460963
    Conserved Domains (1) summary
    pfam00995
    Location:29573
    Sec1; Sec1 family

RNA

  1. NR_073560.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, lacks an internal exon and contains an alternate internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI571535, AK314230, BC002869, BQ067493, DA431480
    Related
    ENST00000597068.5, OTTHUMT00000460964

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    7637101..7647874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528210.2XP_011526512.1  syntaxin-binding protein 2 isoform X1

    Conserved Domains (1) summary
    pfam00995
    Location:29429
    Sec1; Sec1 family
  2. XM_011528212.3XP_011526514.1  syntaxin-binding protein 2 isoform X2

    Conserved Domains (1) summary
    pfam00995
    Location:29413
    Sec1; Sec1 family

RNA

  1. XR_001753741.2 RNA Sequence

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