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STX18 syntaxin 18 [ Homo sapiens (human) ]

Gene ID: 53407, updated on 5-Mar-2024

Summary

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Official Symbol
STX18provided by HGNC
Official Full Name
syntaxin 18provided by HGNC
Primary source
HGNC:HGNC:15942
See related
Ensembl:ENSG00000168818 MIM:606046; AllianceGenome:HGNC:15942
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
Ufe1
Summary
This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in endometrium (RPKM 20.8), skin (RPKM 17.0) and 25 other tissues See more
Orthologs
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Genomic context

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See STX18 in Genome Data Viewer
Location:
4p16.3-p16.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4418968..4542343, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4388433..4511917, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4420695..4544070, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 49 Neighboring gene uncharacterized LOC112268462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4398117-4398664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4398665-4399213 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4407681-4407811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4416839-4417340 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:4428747-4429290 Neighboring gene neuronal vesicle trafficking associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21228 Neighboring gene STX18 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21229 Neighboring gene VISTA enhancer hs746 Neighboring gene uncharacterized LOC107986254 Neighboring gene ribosomal protein S7 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 11878 Neighboring gene uncharacterized LOC124900165 Neighboring gene STX18 antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15215 Neighboring gene long intergenic non-protein coding RNA 3091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4584074-4584574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4611951-4612940 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:4641873-4642792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4643711-4644628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4652800-4653697 Neighboring gene NFE2L2 motif-containing MPRA enhancer 85 Neighboring gene small nucleolar RNA, C/D box 162

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
  • 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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Related articles in PubMed

  1. Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases. Li X, et al. Gene, 2017 Jan 20. PMID 27816473
  2. Effective stimulation of growth in MCF-7 human breast cancer cells by inhibition of syntaxin18 by external guide sequence and ribonuclease P. Bassett T, et al. Cancer Lett, 2008 Dec 8. PMID 18722709
  3. Syntaxin 18, a SNAP receptor that functions in the endoplasmic reticulum, intermediate compartment, and cis-Golgi vesicle trafficking. Hatsuzawa K, et al. J Biol Chem, 2000 May 5. PMID 10788491
  4. SLY1 and Syntaxin 18 specify a distinct pathway for procollagen VII export from the endoplasmic reticulum. Nogueira C, et al. Elife, 2014 May 19. PMID 24842878, Free PMC Article
  5. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Cordell HJ, et al. Nat Genet, 2013 Jul. PMID 23708191, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
    Title: Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
  2. The SNP rs12644497 in the STX18 gene was associated with congenital heart diseases Chinese Han populations.
    Title: Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
  4. Stx18 in involved in growth of human breast cancer cells and may possibly be used as a prognostic marker and a molecular target in the treatment of breast cancer.
    Title: Effective stimulation of growth in MCF-7 human breast cancer cells by inhibition of syntaxin18 by external guide sequence and ribonuclease P.
  5. Suggest that syntaxin 18 has an important role in ER subdomain organization by mediating the fusion of retrograde membrane carriers with the ER membrane.
    Title: Role of syntaxin 18 in the organization of endoplasmic reticulum subdomains.
  6. RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18.
    Title: RINT-1 regulates the localization and entry of ZW10 to the syntaxin 18 complex.
Submit: New GeneRIF Correction

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 of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
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)

Genotypes

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

  • DKFZp686O15149

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in endoplasmic reticulum membrane organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of organelle assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
syntaxin-18
Names
cell growth-inhibiting gene 9 protein

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)

  1. NM_001346281.2 → NP_001333210.1  syntaxin-18 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB028741, AC110814, AL832867, AW953241, DB458668
    UniProtKB/Swiss-Prot
    Q9P2W9

  2. NM_001346282.2 → NP_001333211.1  syntaxin-18 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, CN364605
    UniProtKB/Swiss-Prot
    Q9P2W9
    Conserved Domains (1) summary
    cd15850
    Location:165 → 223
    SNARE_syntaxin18; SNARE motif, subgroup Qa

  3. NM_001346300.2 → NP_001333229.1  syntaxin-18 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB028741, AC110814, AL832867, BP309333
    UniProtKB/Swiss-Prot
    Q9P2W9
    Conserved Domains (1) summary
    cd15850
    Location:165 → 223
    SNARE_syntaxin18; SNARE motif, subgroup Qa

  4. NM_016930.4 → NP_058626.1  syntaxin-18 isoform 1

    See identical proteins and their annotated locations for NP_058626.1

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, DB458668
    Consensus CDS
    CCDS3377.1
    UniProtKB/Swiss-Prot
    Q596L3, Q5TZP5, Q9P2W9
    UniProtKB/TrEMBL
    D6RF48
    Related
    ENSP00000305810.2, ENST00000306200.7
    Conserved Domains (2) summary
    cd15850
    Location:246 → 304
    SNARE_syntaxin18; SNARE motif, subgroup Qa
    pfam10496
    Location:4 → 96
    Syntaxin-18_N; SNARE-complex protein Syntaxin-18 N-terminus

RNA

  1. NR_144414.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, AW953241, DB458668

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    4418968..4542343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    4388433..4511917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2W9.1 GenPept UniProtKB/Swiss-Prot:Q9P2W9

Gene LinkOut

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