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    STX18 syntaxin 18 [ Homo sapiens (human) ]

    Gene ID: 53407, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4418968..4542343, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4388433..4511917, complement)
    RS_2024_09 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 (71) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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