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Aliases for STX2 Gene

Aliases for STX2 Gene

  • Syntaxin 2 2 3 5
  • Epimorphin 2 3 4
  • STX2A 3 4
  • STX2B 3 4
  • STX2C 3 4
  • EPIM 3 4
  • Syntaxin-2 3
  • EPM 3

External Ids for STX2 Gene

Previous HGNC Symbols for STX2 Gene

  • STX2B
  • STX2C
  • STX2A
  • EPIM

Previous GeneCards Identifiers for STX2 Gene

  • GC12M129840
  • GC12M131274
  • GC12M128256

Summaries for STX2 Gene

Entrez Gene Summary for STX2 Gene

  • 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]

GeneCards Summary for STX2 Gene

STX2 (Syntaxin 2) is a Protein Coding gene. Diseases associated with STX2 include Osteogenesis Imperfecta, Type Xv and Deafness, Autosomal Dominant 41. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Synaptic vesicle cycle. GO annotations related to this gene include protein dimerization activity and SNARE binding. An important paralog of this gene is STX1A.

UniProtKB/Swiss-Prot for STX2 Gene

  • Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.

Gene Wiki entry for STX2 Gene

Additional gene information for STX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX2 Gene

Genomics for STX2 Gene

Regulatory Elements for STX2 Gene

Enhancers for STX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H130830 1.2 Ensembl ENCODE 62.4 +7.2 7166 3.6 HDGF PKNOX1 TCF12 GATA2 ATF7 MBD2 SMARCA4 MYNN HNF4A KDM1A STX2 ENSG00000256250 ENSG00000256299
GH12H130825 1.2 Ensembl ENCODE 51.4 +12.4 12432 2.3 ATF1 MLX ARID4B DMAP1 TCF12 GATA2 ZNF143 REST MIER2 ZNF592 ENSG00000256250 STX2 ENSG00000256299
GH12H130813 0.6 ENCODE 60.6 +25.4 25422 1.3 POLR2A EED TARDBP JUNB BATF CREM STX2 ENSG00000256250 ENSG00000256299
GH12H130878 1.2 Ensembl ENCODE 28.3 -40.3 -40282 2.9 HDAC1 YBX3 PKNOX1 ZSCAN4 SIN3A BATF EGR1 ATF7 ETV6 RUNX3 STX2 ENSG00000255933 ENSG00000256299 SFSWAP ENSG00000256250 RAN GC12P130907
GH12H130817 0.5 ENCODE 62.3 +23.7 23704 0.2 MXI1 POLR2A MLLT1 CREM STX2 ENSG00000256299
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STX2 on UCSC Golden Path with GeneCards custom track

Promoters for STX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for STX2 Gene

Genomic Locations for STX2 Gene
64,392 bases
Minus strand

Genomic View for STX2 Gene

Genes around STX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX2 Gene

Proteins for STX2 Gene

  • Protein details for STX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q86VW8

    Protein attributes for STX2 Gene

    288 amino acids
    Molecular mass:
    33341 Da
    Quaternary structure:
    • Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent.
    • Sequence=BAA03436.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for STX2 Gene


neXtProt entry for STX2 Gene

Post-translational modifications for STX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for STX2 (Epimorphin/Syntaxin 2)

No data available for DME Specific Peptides for STX2 Gene

Domains & Families for STX2 Gene

Gene Families for STX2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Protein Domains for STX2 Gene

Suggested Antigen Peptide Sequences for STX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the syntaxin family.
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX2: view

Function for STX2 Gene

Molecular function for STX2 Gene

UniProtKB/Swiss-Prot Function:
Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.

LifeMap Function Summary for STX2 Gene

During embryonic development, STX2 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for STX2 Gene

Gene Ontology (GO) - Molecular Function for STX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005484 SNAP receptor activity IBA --
GO:0005515 protein binding IPI 12773094
GO:0046983 protein dimerization activity IDA 22226963
GO:0048306 calcium-dependent protein binding ISS --
genes like me logo Genes that share ontologies with STX2: view
genes like me logo Genes that share phenotypes with STX2: view

Animal Models for STX2 Gene

MGI Knock Outs for STX2:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STX2 Gene

Localization for STX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX2 Gene

Membrane; Single-pass type IV membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STX2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
cytoskeleton 2
nucleus 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22226963
GO:0005886 plasma membrane IDA 21720706
GO:0008021 synaptic vesicle IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with STX2: view

Pathways & Interactions for STX2 Gene

genes like me logo Genes that share pathways with STX2: view

Pathways by source for STX2 Gene

1 BioSystems pathway for STX2 Gene
1 Qiagen pathway for STX2 Gene

Gene Ontology (GO) - Biological Process for STX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0007165 signal transduction TAS 1581962
GO:0007340 acrosome reaction ISS,IEA --
GO:0007398 ectoderm development TAS 8466509
GO:0009887 animal organ morphogenesis TAS 1581962
genes like me logo Genes that share ontologies with STX2: view

No data available for SIGNOR curated interactions for STX2 Gene

Drugs & Compounds for STX2 Gene

(3) Drugs for STX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for STX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STX2: view

Transcripts for STX2 Gene

Unigene Clusters for STX2 Gene

Syntaxin 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for STX2 Gene

No ASD Table

Relevant External Links for STX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for STX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STX2 Gene

This gene is overexpressed in Spinal cord (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of STX2 Gene:


SOURCE GeneReport for Unigene cluster for STX2 Gene:


Evidence on tissue expression from TISSUES for STX2 Gene

  • Nervous system(2.9)
  • Kidney(2.8)
  • Intestine(2.7)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with STX2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STX2 Gene

Orthologs for STX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for STX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia STX2 33 34
  • 99.65 (n)
(Bos Taurus)
Mammalia STX2 33 34
  • 88.54 (n)
(Monodelphis domestica)
Mammalia STX2 34
  • 88 (a)
(Canis familiaris)
Mammalia STX2 33 34
  • 87.78 (n)
(Mus musculus)
Mammalia Stx2 33 16 34
  • 84.95 (n)
(Rattus norvegicus)
Mammalia Stx2 33
  • 84.37 (n)
(Ornithorhynchus anatinus)
Mammalia STX2 34
  • 69 (a)
(Gallus gallus)
Aves STX2 34
  • 67 (a)
(Anolis carolinensis)
Reptilia STX2 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia stx2 33
  • 73.05 (n)
Str.15965 33
(Danio rerio)
Actinopterygii stx2b 33 34
  • 65.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta Syx1A 34
  • 57 (a)
(Caenorhabditis elegans)
Secernentea unc-64 34
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4995 33
Species where no ortholog for STX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STX2 Gene

Gene Tree for STX2 (if available)
Gene Tree for STX2 (if available)

Paralogs for STX2 Gene

Paralogs for STX2 Gene

(10) SIMAP similar genes for STX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with STX2: view

Variants for STX2 Gene

Sequence variations from dbSNP and Humsavar for STX2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000064882 -- 130,791,762(+) TCTTC(C/T)GTGAA utr-variant-3-prime
rs1000066994 -- 130,814,398(+) CATCT(A/G)ACCTG intron-variant, upstream-variant-2KB
rs1000082508 -- 130,834,538(+) TTCTA(C/T)GGATC intron-variant, upstream-variant-2KB
rs1000209543 -- 130,812,071(+) TTCAC(A/C)AACCA intron-variant, utr-variant-3-prime
rs1000241608 -- 130,821,159(+) AAGGA(A/G)GCAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STX2 Gene

Variant ID Type Subtype PubMed ID
nsv939 CNV insertion 18451855
nsv560744 CNV gain 21841781
nsv527536 CNV loss 19592680
nsv472815 CNV novel sequence insertion 20440878
nsv1121859 CNV deletion 24896259
dgv2977n54 CNV gain 21841781

Variation tolerance for STX2 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX2 Gene

Disorders for STX2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xv
  • osteogenesis imperfecta type 15
deafness, autosomal dominant 41
  • autosomal dominant nonsyndromic deafness 41
deafness, autosomal dominant 25
  • autosomal dominant nonsyndromic deafness 25
- elite association - COSMIC cancer census association via MalaCards
Search STX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for STX2

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with STX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STX2 Gene

Publications for STX2 Gene

  1. Localization of plasma membrane t-SNAREs syntaxin 2 and 3 in intracellular compartments. (PMID: 15943887) Band AM … Kuismanen E (BMC cell biology 2005) 2 3 22 60
  2. The epimorphin gene is highly conserved among humans, mice, and rats and maps to human chromosome 7, mouse chromosome 5, and rat chromosome 12. (PMID: 8938452) Zha H … Wilder RL (Genomics 1996) 2 3 22 60
  3. Molecular cloning of human epimorphin: identification of isoforms and their unique properties. (PMID: 8466509) Hirai Y (Biochemical and biophysical research communications 1993) 3 4 22 60
  4. Homology with vesicle fusion mediator syntaxin-1a predicts determinants of epimorphin/syntaxin-2 function in mammary epithelial morphogenesis. (PMID: 19129200) Chen CS … Radisky DC (The Journal of biological chemistry 2009) 3 22 60
  5. Overexpression of extracellular epimorphin leads to impaired epidermal differentiation in HaCaT keratinocytes. (PMID: 18273050) Okugawa Y … Hirai Y (The Journal of investigative dermatology 2008) 3 22 60

Products for STX2 Gene

Sources for STX2 Gene

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