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
365966052023PACSIN2 as a modulator of autophagy and mercaptopurine cytotoxicity: mechanisms in lymphoid and intestinal cells.0
371326542023Pacsin 2-dependent N-cadherin internalization regulates the migration behaviour of malignant cancer cells.3
365966052023PACSIN2 as a modulator of autophagy and mercaptopurine cytotoxicity: mechanisms in lymphoid and intestinal cells.0
371326542023Pacsin 2-dependent N-cadherin internalization regulates the migration behaviour of malignant cancer cells.3
353528782022Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.2
353528782022Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.2
339725312021A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.16
343251302021Dynamin 2 and BAR domain protein pacsin 2 cooperatively regulate formation and maturation of podosomes.2
339725312021A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.16
343251302021Dynamin 2 and BAR domain protein pacsin 2 cooperatively regulate formation and maturation of podosomes.2
317923712020PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients.8
318018662020PACSIN2 Interacts with Nonstructural Protein 5A and Regulates Hepatitis C Virus Assembly.8
317923712020PACSIN2 rs2413739 influence on thiopurine pharmacokinetics: validation studies in pediatric patients.8
318018662020PACSIN2 Interacts with Nonstructural Protein 5A and Regulates Hepatitis C Virus Assembly.8
312420772019RNAi screen reveals a role for PACSIN2 and caveolins during bacterial cell-to-cell spread.8

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-(protein-kinase-c-and-casein-kinase-substrate-in-neurons-2)