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STX2 syntaxin 2 [ Homo sapiens (human) ]

Gene ID: 2054, updated on 1-Jun-2020

Summary

Official Symbol
STX2provided by HGNC
Official Full Name
syntaxin 2provided by HGNC
Primary source
HGNC:HGNC:3403
See related
Ensembl:ENSG00000111450 MIM:132350
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

Genomic context

See STX2 in Genome Data Viewer
Location:
12q24.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (130789600..130839274, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (131274145..131323819, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370080 Neighboring gene uncharacterized LOC107984451 Neighboring gene RNA, U6 small nuclear 1077, pseudogene Neighboring gene RAN, member RAS oncogene family

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?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC51014

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
syntaxin-2
Names
epimorphin

NCBI Reference Sequences (RefSeq)

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_001351049.2NP_001337978.2  syntaxin-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3.
    Source sequence(s)
    AC073912
  2. NM_001351050.2NP_001337979.1  syntaxin-2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform 4.
    Source sequence(s)
    AC073912
    Conserved Domains (2) summary
    pfam00804
    Location:29226
    Syntaxin
    cl22856
    Location:194260
    SNARE; SNARE motif
  3. NM_001351051.2NP_001337980.1  syntaxin-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 5.
    Source sequence(s)
    AC073912
    Conserved Domains (1) summary
    cl26014
    Location:20152
    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_001351052.2NP_001337981.1  syntaxin-2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform 6.
    Source sequence(s)
    AC073912
    Conserved Domains (2) summary
    pfam05739
    Location:98149
    SNARE; SNARE domain
    cl26014
    Location:197
    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_001980.5NP_001971.2  syntaxin-2 isoform 1

    See identical proteins and their annotated locations for NP_001971.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1).
    Source sequence(s)
    AC073912
    Consensus CDS
    CCDS9269.1
    UniProtKB/Swiss-Prot
    P32856
    Related
    ENSP00000261653.6, ENST00000261653.10
    Conserved Domains (2) summary
    pfam00804
    Location:29226
    Syntaxin; Syntaxin
    pfam05739
    Location:227278
    SNARE; SNARE domain
  6. NM_194356.4NP_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).
    Source sequence(s)
    AC073912
    Consensus CDS
    CCDS9270.1
    UniProtKB/Swiss-Prot
    P32856
    Related
    ENSP00000376178.2, ENST00000392373.7
    Conserved Domains (3) summary
    cd00179
    Location:29180
    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:190258
    SNARE_syntaxin2; SNARE motif of syntaxin 2
    pfam00804
    Location:29226
    Syntaxin; Syntaxin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    130789600..130839274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017018979.2XP_016874468.1  syntaxin-2 isoform X1

  3. XM_017018978.1XP_016874467.1  syntaxin-2 isoform X1

  4. XM_017018980.2XP_016874469.1  syntaxin-2 isoform X2

  5. XM_017018983.2XP_016874472.1  syntaxin-2 isoform X5

  6. XM_017018984.1XP_016874473.1  syntaxin-2 isoform X6

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

  8. XM_017018988.1XP_016874477.1  syntaxin-2 isoform X7

  9. XM_017018989.1XP_016874478.1  syntaxin-2 isoform X8

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