SNAP91 (synaptosome associated protein 91)

2012-11-01  

Identity

HGNC
SNAP91
LOCATION
6q14.2
LOCUSID
9892
ALIAS
AP180,CALM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9892
MIM: 607923
HGNC: 14986
Ensembl: ENSG00000065609

Variants:

dbSNP: 9892
ClinVar: 9892
TCGA: ENSG00000065609
COSMIC: SNAP91

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065609ENST00000195649E9PDG8
ENSG00000065609ENST00000369690E5RFC6
ENSG00000065609ENST00000369691A0A0A0MRM7
ENSG00000065609ENST00000369694O60641
ENSG00000065609ENST00000439399O60641
ENSG00000065609ENST00000518309E5RK51
ENSG00000065609ENST00000518312E5RGP8
ENSG00000065609ENST00000519779E5RIJ5
ENSG00000065609ENST00000519825E5RJY3
ENSG00000065609ENST00000520213O60641
ENSG00000065609ENST00000520302O60641
ENSG00000065609ENST00000521485E9PDG8
ENSG00000065609ENST00000521616E5RK53
ENSG00000065609ENST00000521743O60641
ENSG00000065609ENST00000521931E5RGY9
ENSG00000065609ENST00000522248E5RHK9
ENSG00000065609ENST00000523199E5RGP8
ENSG00000065609ENST00000523448H0YBT2
ENSG00000065609ENST00000523484E5RFU0
ENSG00000065609ENST00000523585E5RGP8

Expression (GTEx)

0
50
100
150
200
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
262048062015Intrinsically disordered proteins drive membrane curvature.58
218080192011SNARE motif-mediated sorting of synaptobrevin by the endocytic adaptors clathrin assembly lymphoid myeloid leukemia (CALM) and AP180 at synapses.55
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
264124912015Vesicular Synaptobrevin/VAMP2 Levels Guarded by AP180 Control Efficient Neurotransmission.23
226399182012Turning CALM into excitement: AP180 and CALM in endocytosis and disease.16
208474482010Changed clathrin regulatory proteins in the brains of Alzheimer's disease patients and animal models.14
194505452009The clathrin assembly protein AP180 regulates the generation of amyloid-beta peptide.11
205115632010Novel cleft susceptibility genes in chromosome 6q.6
124935632003Immunohistochemical characterization of clathrin assembly protein AP180 and synaptophysin in human brain.2

Citation

Dessen P

SNAP91 (synaptosome associated protein 91)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53048/snap91