PACSIN2

PACSIN2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3ABH, 3ACO, 3HAJ, 3Q0K
Identifiers
Aliases	PACSIN2, SDPII, protein kinase C and casein kinase substrate in neurons 2
External IDs	OMIM: 604960; MGI: 1345153; HomoloGene: 21414; GeneCards: PACSIN2; OMA:PACSIN2 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	43,015,149 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	83,348,807 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; tibia; ; mucosa of sigmoid colon; ; visceral pleura; ; body of pancreas; ; cartilage tissue; ; endothelial cell; ; renal medulla; ; urethra; ; cardia;
	Top expressed in
	interventricular septum; ; epithelium of stomach; ; neural layer of retina; ; primary oocyte; ; secondary oocyte; ; vestibular membrane of cochlear duct; ; myocardium of ventricle; ; zygote; ; atrioventricular valve; ; tunica media of zone of aorta;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transporter activity; cytoskeletal protein binding; phosphatidic acid binding; protein binding; identical protein binding; lipid binding; cadherin binding; phospholipid binding;
Cellular component	endosome; cell projection; membrane; intracellular membrane-bounded organelle; cell-cell junction; focal adhesion; ruffle membrane; recycling endosome membrane; early endosome; caveola; extracellular exosome; cytoplasmic vesicle membrane; cytoskeleton; cytoplasmic vesicle; extrinsic component of membrane; cytoplasm; cytosol; plasma membrane; nuclear speck; glutamatergic synapse;
Biological process	regulation of endocytosis; caveolin-mediated endocytosis; negative regulation of endocytosis; endocytosis; caveola assembly; plasma membrane tubulation; protein localization to endosome; cell projection morphogenesis; actin cytoskeleton organization; membrane organization; cytoskeleton organization; modulation of chemical synaptic transmission;
	Sources:Amigo / QuickGO
Orthologs
	11252
	23970
	ENSG00000100266
	ENSMUSG00000016664
	Q9UNF0
	Q9WVE8
NM_001184970; NM_001184971; NM_007229; NM_001349968; NM_001349969;
	NM_001349970; NM_001349971; NM_001349972; NM_001349973; NM_001349974
NM_001159509; NM_001159510; NM_011862; NM_001358641; NM_001358642;
	NM_001358643; NM_001358644
NP_001171899; NP_001171900; NP_009160; NP_001336897; NP_001336898;
	NP_001336899; NP_001336900; NP_001336901; NP_001336902; NP_001336903
NP_001152981; NP_001152982; NP_035992; NP_001345570; NP_001345571;
	NP_001345572; NP_001345573
	Wikidata
View/Edit Human	View/Edit Mouse

Protein kinase C and casein kinase substrate in neurons protein 2 (Pacsin 2) is a protein that in humans is encoded by the PACSIN2 gene. Pacsin 2 is involved in the formation of caveolae.

The variant rs2413739 in PACSIN2 has been associated with the activity of the enzyme thiopurine-methyltransferase during remission maintenance therapy of children with acute lymphoblastic leukemia and with the incidence of severe gastrointestinal adverse events during remission consolidation therapy of children with acute lymphoblastic leukemia, based mostly on the antimetabolites mercaptopurine and methotrexate.