STX18 syntaxin 18 [Homo sapiens (human)] - Gene

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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.
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.
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.
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.
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.
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 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

SHGC-50656 (e-PCR)
- UniSTS:64775

SHGC-67907 (e-PCR)
- UniSTS:50963

SHGC-50981 (e-PCR)
- UniSTS:10013

STX18__5346 (e-PCR)
- UniSTS:463916

D4S2703 (e-PCR)
- UniSTS:12637

D4S1275 (e-PCR)
- UniSTS:33918

WI-17747 (e-PCR)
- UniSTS:61061

G65528 (e-PCR)
- UniSTS:166560

STS-D51228 (e-PCR)
- UniSTS:64464

SHGC-30353 (e-PCR)
- UniSTS:36317

WIAF-2557 (e-PCR)
- UniSTS:35567

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)

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

Status: REVIEWED

Source sequence(s)

AB028741, AC110814, AL832867, AW953241, DB458668

UniProtKB/Swiss-Prot

Q9P2W9
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
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
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