STX3 syntaxin 3

Gene ID: 6809, updated on 28-Oct-2024
Gene type: protein coding
Also known as: MVID2; STX3A; DIAR12; RDMVID

Summary

The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Diarrhea 12, with microvillus atrophy MedGen: C5561942OMIM: 619445GeneReviews: Not available	See labs
Retinal dystrophy and microvillus inclusion disease MedGen: C5561943OMIM: 619446GeneReviews: Not available	See labs

Genomic context

Location:: 11q12.1

Sequence:: Chromosome: 11; NC_000011.10 (59754188..59805878)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for STX3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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