SNAP29 (synaptosome associated protein 29)

2016-10-01  

Identity

HGNC
SNAP29
LOCATION
22q11.21
LOCUSID
9342
ALIAS
CEDNIK,SNAP-29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9342
MIM: 604202
HGNC: 11133
Ensembl: ENSG00000099940

Variants:

dbSNP: 9342
ClinVar: 9342
TCGA: ENSG00000099940
COSMIC: SNAP29

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099940ENST00000215730O95721
ENSG00000099940ENST00000439214C9JAF7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Autophagy - animalKEGGko04140
SNARE interactions in vesicular transportKEGGhsa04130
Autophagy - animalKEGGhsa04140
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
254198482014O-GlcNAc-modification of SNAP-29 regulates autophagosome maturation.72
159685922005A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.52
232317872013Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.39
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
255516752014Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila.28
158906532005SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons.27
203057902010Loss of SNAP29 impairs endocytic recycling and cell motility.26
210734482011CEDNIK syndrome results from loss-of-function mutations in SNAP29.23
113172222001Polymorphism in SNAP29 gene promoter region associated with schizophrenia.13
276478762016An essential step of kinetochore formation controlled by the SNARE protein Snap29.7

Citation

Dessen P

SNAP29 (synaptosome associated protein 29)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56477/snap29