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

    Gene ID: 6813, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See STXBP2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7637110..7647873)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7701996..7712759)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene XPA binding protein 2 Neighboring gene PET100 cytochrome c oxidase chaperone Neighboring gene Purkinje cell protein 2 Neighboring gene RPS27A pseudogene 19 Neighboring gene resistin

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables syntaxin-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables syntaxin-3 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables syntaxin-3 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in leukocyte mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neutrophil degranulation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation of mast cell degranulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle docking involved in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytolytic granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in specific granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tertiary granule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    syntaxin-binding protein 2
    Names
    protein unc-18 homolog B
    unc-18B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001127396.3NP_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)
      BC002869, BQ067493
      Consensus CDS
      CCDS45948.1
      UniProtKB/Swiss-Prot
      Q15833
      Related
      ENSP00000409471.1, ENST00000414284.6
      Conserved Domains (1) summary
      pfam00995
      Location:29570
      Sec1; Sec1 family
    2. NM_001272034.2NP_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
      Consensus CDS
      CCDS62522.1
      UniProtKB/Swiss-Prot
      Q15833
      Related
      ENSP00000413606.2, ENST00000441779.6
      Conserved Domains (1) summary
      pfam00995
      Location:29584
      Sec1; Sec1 family
    3. NM_006949.4NP_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)
      AK222967, BC002869, DA431480
      Consensus CDS
      CCDS12181.1
      UniProtKB/Swiss-Prot
      Q15833
      UniProtKB/TrEMBL
      Q53GF4
      Related
      ENSP00000221283.4, ENST00000221283.10
      Conserved Domains (1) summary
      pfam00995
      Location:29573
      Sec1; Sec1 family

    RNA

    1. NR_073560.2 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)
      AK314230, BC002869, DA431480
      Related
      ENST00000597068.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      7637110..7647873
      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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