STX3 Chromosome 11
Syntaxin 3
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What This Gene Does
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]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
11q12.1
Ensembl
ENSG00000166900
Associated Conditions (4)
Inborn genetic diseases
Diarrhea 12
with microvillus atrophy
Retinal dystrophy and microvillus inclusion disease
Key Variants
RS2229915
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746797808
Conflicting classifications of pathogenicity
Diarrhea 12, with microvillus atrophy, Diarrhea 12
Health Risk
RS1394703998
Likely pathogenic
Health Risk
RS1310783792
Pathogenic
Health Risk
RS1359585490
Pathogenic
Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
Health Risk
RS2134993322
Pathogenic
Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
Health Risk
RS2135015182
Pathogenic
Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
Health Risk
RS2135015231
Pathogenic
Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
Health Risk
RS2495577460
Pathogenic
Health Risk
RS372990138
Pathogenic
Health Risk
RS575668968
Pathogenic
Diarrhea 12, with microvillus atrophy, Diarrhea 12
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2229915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746797808 | Health Risk | Conflicting classifications of pathogenicity | Diarrhea 12, with microvillus atrophy, Diarrhea 12 |
| RS1394703998 | Health Risk | Likely pathogenic | — |
| RS1310783792 | Health Risk | Pathogenic | — |
| RS1359585490 | Health Risk | Pathogenic | Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease |
| RS2134993322 | Health Risk | Pathogenic | Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease |
| RS2135015182 | Health Risk | Pathogenic | Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease |
| RS2135015231 | Health Risk | Pathogenic | Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease |
| RS2495577460 | Health Risk | Pathogenic | — |
| RS372990138 | Health Risk | Pathogenic | — |
| RS575668968 | Health Risk | Pathogenic | Diarrhea 12, with microvillus atrophy, Diarrhea 12 |