STX16 Chromosome 20
Syntaxin 16
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What This Gene Does
This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
20q13.32
Ensembl
ENSG00000124222
Associated Conditions (3)
Pseudohypoparathyroidism type 1B
Inborn genetic diseases
STX16-related disorder
Key Variants
RS115046538
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B
Health Risk
RS138647604
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
Health Risk
RS185111037
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B
Health Risk
RS188308261
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B
Health Risk
RS200474760
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202102691
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Inborn genetic diseases, STX16-related disorder
Health Risk
RS754524705
Conflicting classifications of pathogenicity
Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115046538 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B |
| RS138647604 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B |
| RS185111037 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B |
| RS188308261 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Inborn genetic diseases, Pseudohypoparathyroidism type 1B |
| RS200474760 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202102691 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Inborn genetic diseases, STX16-related disorder |
| RS754524705 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B |