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    STX2 syntaxin 2 [ Homo sapiens (human) ]

    Gene ID: 2054, updated on 14-Nov-2024

    Summary

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    Official Symbol
    STX2provided by HGNC
    Official Full Name
    syntaxin 2provided by HGNC
    Primary source
    HGNC:HGNC:3403
    See related
    Ensembl:ENSG00000111450 MIM:132350; AllianceGenome:HGNC:3403
    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
    EPM; EPIM; STX2A; STX2B; STX2C
    Summary
    The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 4.3), lung (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STX2 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (130789600..130839250, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (130828749..130878417, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (131274145..131323795, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene piwi like RNA-mediated gene silencing 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25849 Neighboring gene RIMS binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130931901-130932400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130935063-130935689 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:130938232-130938396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130947695-130948194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:130954155-130954656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:130954657-130955156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130956221-130956721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7343 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:130966855-130967455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130988941-130989441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130988440-130988940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:130998885-130999583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25887 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:131047373-131048572 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25901 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131092324-131092520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131097951-131098545 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:131118450-131118967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131145339-131145838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131188343-131189087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131212975-131213518 Neighboring gene uncharacterized LOC105370080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131246445-131247250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7345 Neighboring gene Sharpr-MPRA regulatory region 14372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131271649-131272370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131272371-131273092 Neighboring gene Sharpr-MPRA regulatory region 967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131290439-131291361 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131296228-131296411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7347 Neighboring gene uncharacterized LOC124903117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5092 Neighboring gene Sharpr-MPRA regulatory region 8535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131335999-131336907 Neighboring gene uncharacterized LOC124903053 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:131337941-131338691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:131338692-131339442 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:131339443-131340192 Neighboring gene RNA, U6 small nuclear 1077, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plasma membrane flipping of Syntaxin-2 regulates its inhibitory action on insulin granule exocytosis.
      Title: Plasma membrane flipping of Syntaxin-2 regulates its inhibitory action on insulin granule exocytosis.
    2. STX2 drives colorectal cancer proliferation via upregulation of EXOSC4.
      Title: STX2 drives colorectal cancer proliferation via upregulation of EXOSC4.
    3. STX2 as a crucial modulator of the aggressive colorectal cancer phenotype.
      Title: STX2 promotes colorectal cancer metastasis through a positive feedback loop that activates the NF-κB pathway.
    4. he patient showed azoospermia, relatively small testes, and a mildly elevated follicle stimulating hormone level, but no additional clinical features. Testicular histology of the patient showed universal maturation arrest and multinucleated spermatocytes, which have also been observed in mice lacking Stx2. PCR-based cDNA screening revealed wildtype STX2 expression in various tissues including the testis
      Title: STX2 is a causative gene for nonobstructive azoospermia.
    5. Munc134 mediates human neutrophil elastaseinduced airway mucin5AC hypersecretion by interacting with syntaxin2
      Title: Munc13‑4 mediates human neutrophil elastase‑induced airway mucin5AC hypersecretion by interacting with syntaxin2.
    6. TGF-beta, bFGF and epimorphin in the extracellular microenvironment cooperatively affect HSF behaviors under the control of a highly sulfated chondroitin sulfate
      Title: Sulfated glycosaminoglycans and non-classically secreted proteins, basic FGF and epimorphin, coordinately regulate TGF-β-induced cell behaviors of human scar dermal fibroblasts.
    7. The effects of HIV/HCV co-infection on hepatic fibrosis might be mediated in part by epimorphin (EPM). Strategies to limit the expression of EPM might represent a novel therapeutic approach to prevent the progression of hepatic fibrosis during HIV/HCV co-infection.
      Title: HIV and HCV Co-Culture Promotes Profibrogenic Gene Expression through an Epimorphin-Mediated ERK Signaling Pathway in Hepatic Stellate Cells.
    8. Identify 3 loci associated with circulating tPA levels, the PLAT region, STXBP5, and STX2. Functional studies implicate a novel role for STXBP5 and STX2 in regulating tPA release.
      Title: Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
    9. Epimorphin can revert ovarian cancer cells away from their mesenchymal phenotype and toward an epithelial phenotype.
      Title: Epimorphin-induced MET sensitizes ovarian cancer cells to platinum.
    10. epimorphin modulates the signaling pathways mediated by EGFR for epidermal tissue organization
      Title: Extracellular epimorphin modulates epidermal differentiation signals mediated by epidermal growth factor receptor.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC51014

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acrosome reaction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cornified envelope assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ectoderm development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle fusion to presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in lamellipodium 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 presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    syntaxin-2
    Names
    epimorphin

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001351049.2 → NP_001337978.2  syntaxin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC073912
      Consensus CDS
      CCDS91778.1
      UniProtKB/TrEMBL
      A0A994J5V9, A0A994J7R2
      Related
      ENSP00000516327.1, ENST00000706282.1
      Conserved Domains (2) summary
      pfam00804
      Location:29 → 226
      Syntaxin
      cl22856
      Location:194 → 260
      SNARE; SNARE motif

    2. NM_001351050.2 → NP_001337979.1  syntaxin-2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC073912
      UniProtKB/TrEMBL
      A0A994J7R2
      Related
      ENSP00000516326.1, ENST00000706281.1
      Conserved Domains (2) summary
      pfam00804
      Location:29 → 226
      Syntaxin
      cl22856
      Location:194 → 260
      SNARE; SNARE motif

    3. NM_001351051.2 → NP_001337980.1  syntaxin-2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC073912
      Conserved Domains (1) summary
      cl26014
      Location:20 → 152
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...

    4. NM_001351052.2 → NP_001337981.1  syntaxin-2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC073912
      Conserved Domains (2) summary
      pfam05739
      Location:98 → 149
      SNARE; SNARE domain
      cl26014
      Location:1 → 97
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...

    5. NM_001413773.1 → NP_001400702.1  syntaxin-2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC073912

    6. NM_001413774.1 → NP_001400703.1  syntaxin-2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC073912

    7. NM_001413775.1 → NP_001400704.1  syntaxin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073912
      UniProtKB/Swiss-Prot
      P32856, Q86VW8

    8. NM_001980.5 → NP_001971.2  syntaxin-2 isoform 1

      See identical proteins and their annotated locations for NP_001971.2

      Status: REVIEWED

      Source sequence(s)
      AC073912
      Consensus CDS
      CCDS9269.1
      UniProtKB/Swiss-Prot
      P32856
      Related
      ENSP00000261653.6, ENST00000261653.11
      Conserved Domains (2) summary
      pfam00804
      Location:29 → 226
      Syntaxin; Syntaxin
      pfam05739
      Location:227 → 278
      SNARE; SNARE domain

    9. NM_194356.4 → NP_919337.1  syntaxin-2 isoform 2

      See identical proteins and their annotated locations for NP_919337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2). Variants 2 and 9 both encode the same isoform (2).
      Source sequence(s)
      AC073912
      Consensus CDS
      CCDS9270.1
      UniProtKB/Swiss-Prot
      P32856, Q86VW8
      Related
      ENSP00000376178.2, ENST00000392373.7
      Conserved Domains (3) summary
      cd00179
      Location:29 → 180
      SynN; Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may ...
      cd15882
      Location:190 → 258
      SNARE_syntaxin2; SNARE motif of syntaxin 2
      pfam00804
      Location:29 → 226
      Syntaxin; Syntaxin

    RNA

    1. NR_182216.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073912

    2. NR_182217.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073912
      Related
      ENST00000706278.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      130789600..130839250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018982.3 → XP_016874471.1  syntaxin-2 isoform X4

    2. XM_017018980.3 → XP_016874469.1  syntaxin-2 isoform X2

    3. XM_047428491.1 → XP_047284447.1  syntaxin-2 isoform X1

    4. XM_017018983.3 → XP_016874472.1  syntaxin-2 isoform X5

    5. XM_017018984.2 → XP_016874473.1  syntaxin-2 isoform X6

    6. XM_047428492.1 → XP_047284448.1  syntaxin-2 isoform X7

    7. XM_017018981.3 → XP_016874470.1  syntaxin-2 isoform X3

    8. XM_017018988.2 → XP_016874477.1  syntaxin-2 isoform X9

    9. XM_047428493.1 → XP_047284449.1  syntaxin-2 isoform X8

      UniProtKB/TrEMBL
      A0A994J840
      Related
      ENSP00000516329.1, ENST00000706284.1

    10. XM_017018989.2 → XP_016874478.1  syntaxin-2 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      130828749..130878417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371395.1 → XP_054227370.1  syntaxin-2 isoform X4

    2. XM_054371393.1 → XP_054227368.1  syntaxin-2 isoform X2

    3. XM_054371392.1 → XP_054227367.1  syntaxin-2 isoform X1

    4. XM_054371396.1 → XP_054227371.1  syntaxin-2 isoform X5

    5. XM_054371397.1 → XP_054227372.1  syntaxin-2 isoform X6

    6. XM_054371398.1 → XP_054227373.1  syntaxin-2 isoform X7

    7. XM_054371394.1 → XP_054227369.1  syntaxin-2 isoform X3

    8. XM_054371400.1 → XP_054227375.1  syntaxin-2 isoform X9

    9. XM_054371399.1 → XP_054227374.1  syntaxin-2 isoform X8

      UniProtKB/TrEMBL
      A0A994J840

    10. XM_054371401.1 → XP_054227376.1  syntaxin-2 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32856.3 GenPept UniProtKB/Swiss-Prot:P32856

    Gene LinkOut

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