PACSIN2 (protein kinase C and casein kinase substrate in neurons 2)

2016-10-01  

Identity

HGNC
PACSIN2
LOCATION
22q13.2
LOCUSID
11252
ALIAS
SDPII
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11252
MIM: 604960
HGNC: 8571
Ensembl: ENSG00000100266

Variants:

dbSNP: 11252
ClinVar: 11252
TCGA: ENSG00000100266
COSMIC: PACSIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100266ENST00000263246Q9UNF0
ENSG00000100266ENST00000337959Q9UNF0
ENSG00000100266ENST00000337959Q6FIA3
ENSG00000100266ENST00000402229Q9UNF0
ENSG00000100266ENST00000403744Q9UNF0
ENSG00000100266ENST00000407585Q9UNF0
ENSG00000100266ENST00000407585Q6FIA3
ENSG00000100266ENST00000418133B0QYG7
ENSG00000100266ENST00000422336B0QYG7
ENSG00000100266ENST00000453079B0QYG9
ENSG00000100266ENST00000453643B0QYG8
ENSG00000100266ENST00000507586H0Y923
ENSG00000100266ENST00000634914A0A0U1RR22

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPKPD22846425, 27452984
PA450379mercaptopurineChemicalClinicalAnnotationassociatedPKPD22846425, 27452984
PA450428methotrexateChemicalClinicalAnnotationassociatedPKPD22846425

References

Pubmed IDYearTitleCitations
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.225
195498362009Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin.90
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218079422011Pacsin 2 is recruited to caveolae and functions in caveolar biogenesis.56
216100942011Essential role of PACSIN2/syndapin-II in caveolae membrane sculpting.51
235963232013Cooperation of MICAL-L1, syndapin2, and phosphatidic acid in tubular recycling endosome biogenesis.46
216935842011The F-BAR domain protein PACSIN2 associates with Rac1 and regulates cell spreading and migration.41
205643192010Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.36
165516952006Complexes of syndapin II with dynamin II promote vesicle formation at the trans-Golgi network.29
201880972010Mapping of the basic amino-acid residues responsible for tubulation and cellular protrusion by the EFC/F-BAR domain of pacsin2/Syndapin II.29

Citation

Dessen P

PACSIN2 (protein kinase C and casein kinase substrate in neurons 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56519/pacsin2