STX16 (syntaxin 16)

2014-08-01  

Identity

HGNC
STX16
LOCATION
20q13.32
LOCUSID
8675
ALIAS
SYN16
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
bone marrow

References

Pubmed IDYearTitleCitations
380956372024Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.0
380956372024Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.0
332695692022Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism.1
344772002022Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.5
332695692022Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism.1
344772002022Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.5
332478542021Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.4
332478542021Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.4
273386442016Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.10
273386442016Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.10
258433302015Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.5
258433302015Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.5
230952092013Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.6
236776962013VAMP4 is required to maintain the ribbon structure of the Golgi apparatus.17
241095962013Syntaxin 16 is a master recruitment factor for cytokinesis.20

Citation

Dessen P

STX16 (syntaxin 16)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54674/haematological-explorer/haematological-explorer/