PACSIN2

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.^[5][6][7] Pacsin 2 is involved in the formation of caveolae.^[8]

PDBOrtholog search: PDBe RCSB

AliasesPACSIN2, SDPII, protein kinase C and casein kinase substrate in neurons 2

External IDsOMIM: 604960; MGI: 1345153; HomoloGene: 21414; GeneCards: PACSIN2; OMA:PACSIN2 - orthologs

Chr.Chromosome 22 (human)^[1]

Quick facts Available structures, PDB ...

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)[1] Band 22q13.2 Start 42,835,412 bp[1] End 43,015,149 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E1 Start 83,259,808 bp[2] End 83,348,807 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 11252 23970 Ensembl ENSG00000100266 ENSMUSG00000016664 UniProt Q9UNF0 Q9WVE8 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 22: 42.84 – 43.02 Mb Chr 15: 83.26 – 83.35 Mb PubMed search [3] [4]
Wikidata
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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.^[9]