Gene
STX16
syntaxin 16
- HGNC 11431↗(opens in a new tab)
- Ensembl gene ENSG00000124222↗(opens in a new tab)
- NCBI Gene 8675↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.32
- Coordinates
- Chromosome 20: 58,651,283–58,679,526 (GRCh38)
- Exons
- 9 exons across 28.2 kb
- Protein
- 325 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- hsyn16, SYN16, SYN-16
- MANE Select transcript
- ENST00000371141.8NM_001001433.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Pseudohypoparathyroidism & GNAS-Inactivation Disorders
- PseudohypoparathyroidismAutosomal dominant
Resistance to parathyroid hormone, and often to TSH and other hormones, causing low calcium and high phosphate, with or without Albright hereditary osteodystrophy.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Calcitriol, calcium and, where needed, levothyroxine or growth hormone treat the hormone resistance.
- Disorder of GNAS inactivationAutosomal dominant
Conditions caused by loss of GNAS function, including pseudopseudohypoparathyroidism and progressive osseous heteroplasia; which form develops depends on which parent the variant came from.
- 3 GenCC submitters rate it definitive or strong
Thyroid Cancer
- Parathyroid Gland Disorder
A disease involving the parathyroid gland.
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How STX16 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.9 kb of the gene's 28.2 kb; 978 of those bases code for the protein.
How a genome test reads STX16
2
positions in STX16 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (50%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 28.2 kb of STX16, introns included, not only the 4.9 kb of exons.
Genes linked to the same conditions
- GNASGNAS complex locusShares 3 conditions
- AIREautoimmune regulatorShares 1 condition
- CASRcalcium sensing receptorShares 1 condition
- CDC73cell division cycle 73Shares 1 condition
- GCM2GCM transcription factor 2Shares 1 condition
- GNA11G protein subunit alpha 11Shares 1 condition
- MEN1menin 1Shares 1 condition
- PTHparathyroid hormoneShares 1 condition
- TRPV6transient receptor potential cation channel subfamily V member 6Shares 1 condition
Traits linked to STX16
The Human Phenotype Ontology lists these as features of the rare conditions STX16 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Anxiety
- Decreased reflex response
- Depression
- Disorder of involuntary muscle movements
- Hypocalcemic tetany
- Irritability
- Laryngeal dystonia
- Myoclonic spasms
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). STX16 gene: syntaxin 16. Retrieved 16 October 2026, from https://dantelabs.com/genes/stx16
Dante Labs. STX16 gene: syntaxin 16 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stx16
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