STX16 (syntaxin 16)

2014-08-01  

Identity

HGNC
LOCATION
20q13.32
LOCUSID
ALIAS
SYN16
FUSION GENES

Other Information

Locus ID:

NCBI: 8675
MIM: 603666
HGNC: 11431
Ensembl: ENSG00000124222

Variants:

dbSNP: 8675
ClinVar: 8675
TCGA: ENSG00000124222
COSMIC: STX16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124222ENST00000312283F8W9Z6
ENSG00000124222ENST00000355957O14662
ENSG00000124222ENST00000358029O14662
ENSG00000124222ENST00000359617O14662
ENSG00000124222ENST00000361830O14662
ENSG00000124222ENST00000371132O14662
ENSG00000124222ENST00000371141O14662
ENSG00000124222ENST00000412911B7ZBM4
ENSG00000124222ENST00000438253B7ZBM8
ENSG00000124222ENST00000458280B7ZBM5
ENSG00000124222ENST00000460655E9PLV7
ENSG00000124222ENST00000464640Q96NX8
ENSG00000124222ENST00000467096O14662
ENSG00000124222ENST00000476384E9PND6
ENSG00000124222ENST00000483434E9PND6
ENSG00000124222ENST00000493301H0YEW0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
SNARE interactions in vesicular transportKEGGko04130
SNARE interactions in vesicular transportKEGGhsa04130
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173896862007Syntaxin 16 and syntaxin 5 are required for efficient retrograde transport of several exogenous and endogenous cargo proteins.48
158008432005A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.45
198876222009Aurora B-mediated phosphorylation of RASSF1A maintains proper cytokinesis by recruiting Syntaxin16 to the midzone and midbody.17
208268152010Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.17
241095962013Syntaxin 16 is a master recruitment factor for cytokinesis.17
178527342008Syntaxin 16 is enriched in neuronal dendrites and may have a role in neurite outgrowth.11
236776962013VAMP4 is required to maintain the ribbon structure of the Golgi apparatus.11
230873242012De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.10
273386442016Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.5
230952092013Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.4

Citation

Dessen P

STX16 (syntaxin 16)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54674/stx16