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]

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
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 83,375,607 bp[2] End 83,464,606 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transporter activity • cytoskeletal protein binding • phosphatidic acid binding • GO:0001948 protein binding • identical protein binding • lipid binding • cadherin binding • phospholipid binding Cellular component • endosome • cell projection • membrane • intracellular membrane-bounded organelle • intercellular 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 • cell 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: 83.38 – 83.46 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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].

Interactions

PACSIN2 has been shown to interact with:

• Fas ligand,[10]
• PACSIN1,[6][11] and
• PACSIN3.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000100266 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000016664 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ritter B, Modregger J, Paulsson M, Plomann M (Aug 1999). "PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins". FEBS Lett. 454 (3): 356–62. doi:10.1016/S0014-5793(99)00830-3. PMID 10431838.
6. Modregger J, Ritter B, Witter B, Paulsson M, Plomann M (Jan 2001). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". J Cell Sci. 113 (24): 4511–21. PMID 11082044.
7. "Entrez Gene: PACSIN2 protein kinase C and casein kinase substrate in neurons 2".
8. Shvets, E; Ludwig, A; Nichols, BJ (August 2014). "News from the caves: update on the structure and function of caveolae". Current Opinion in Cell Biology. 29: 99–106. doi:10.1016/j.ceb.2014.04.011. PMID 24908346.
9. "PACSIN2 rs2413739 Influence on Thiopurine Pharmacokinetics: Validation Studies in Pediatric Patients". The Pharmacogenomics Journal. doi:10.1038/s41397-019-0130-0.
10. Ghadimi MP, Sanzenbacher R, Thiede B, Wenzel J, Jing Q, Plomann M, Borkhardt A, Kabelitz D, Janssen O (May 2002). "Identification of interaction partners of the cytosolic polyproline region of CD95 ligand (CD178)". FEBS Lett. 519 (1–3): 50–8. doi:10.1016/s0014-5793(02)02709-6. PMID 12023017.
11. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
• Sumoy L, Pluvinet R, Andreu N, Estivill X, Escarceller M (2001). "PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family". Gene. 262 (1–2): 199–205. doi:10.1016/S0378-1119(00)00531-X. PMID 11179684.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Ghadimi MP, Sanzenbacher R, Thiede B, Wenzel J, Jing Q, Plomann M, Borkhardt A, Kabelitz D, Janssen O (2002). "Identification of interaction partners of the cytosolic polyproline region of CD95 ligand (CD178)". FEBS Lett. 519 (1–3): 50–8. doi:10.1016/S0014-5793(02)02709-6. PMID 12023017.
• Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Kessels MM, Dong J, Leibig W, Westermann P, Qualmann B (2006). "Complexes of syndapin II with dynamin II promote vesicle formation at the trans-Golgi network". J. Cell Sci. 119 (Pt 8): 1504–16. doi:10.1242/jcs.02877. PMID 16551695.
• Cuajungco MP, Grimm C, Oshima K, D'hoedt D, Nilius B, Mensenkamp AR, Bindels RJ, Plomann M, Heller S (2006). "PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4". J. Biol. Chem. 281 (27): 18753–62. doi:10.1074/jbc.M602452200. PMID 16627472.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.