STX2 syntaxin 2 [Homo sapiens (human)] - Gene

Summary

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

Location:: 12q24.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (130789600..130839250, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (130828749..130878417, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (131274145..131323795, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
STX2 drives colorectal cancer proliferation via upregulation of EXOSC4.
Title: STX2 drives colorectal cancer proliferation via upregulation of EXOSC4.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-D14582 (e-PCR)
- UniSTS:35335

RH68574 (e-PCR)
- UniSTS:32539

WIAF-2148 (e-PCR)
- UniSTS:57381

RH121436 (e-PCR)
- UniSTS:137803

D7S2067E (e-PCR)
- UniSTS:151120

D1S1423 (e-PCR)
- UniSTS:149619

D17S610 (e-PCR)
- UniSTS:46230

D6S1152E (e-PCR)
- UniSTS:42927

WI-12272 (e-PCR)
- UniSTS:60147

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 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
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: syntaxin-2

Names: epimorphin

NCBI Reference Sequences (RefSeq)

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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)

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

Status: REVIEWED

Source sequence(s)

AC073912
NM_001413774.1 → NP_001400703.1 syntaxin-2 isoform 8

Status: REVIEWED

Source sequence(s)

AC073912
NM_001413775.1 → NP_001400704.1 syntaxin-2 isoform 2

Status: REVIEWED

Source sequence(s)

AC073912

UniProtKB/Swiss-Prot

P32856, Q86VW8
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
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

NR_182216.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073912
NR_182217.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073912

Related

ENST00000706278.1