PACSIN2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPACSIN2, SDPII, protein kinase C and casein kinase substrate in neurons 2
External IDsOMIM: 604960 MGI: 1345153 HomoloGene: 21414 GeneCards: PACSIN2
Orthologs
SpeciesHumanMouse
Entrez

11252

23970

Ensembl

ENSG00000100266

ENSMUSG00000016664

UniProt

Q9UNF0

Q9WVE8

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 22: 42.84 – 43.02 MbChr 15: 83.26 – 83.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6][7] Pacsin 2 is involved in the formation of caveolae.[8]

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:

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100266 - Ensembl, May 2017
  2. 1 2 3 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. S2CID 44788141.
  6. 1 2 3 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. doi:10.1242/jcs.113.24.4511. 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. Franca, Raffaella; Stocco, Gabriele; Favretto, Diego; Giurici, Nagua; Del Rizzo, Irene; Locatelli, Franco; Vinti, Luciana; Biondi, Andrea; Colombini, Antonella; Fagioli, Franca; Barisone, Elena; Pelin, Marco; Martellossi, Stefano; Ventura, Alessandro; Decorti, Giuliana; Rabusin, Marco (2020). "PACSIN2 rs2413739 Influence on Thiopurine Pharmacokinetics: Validation Studies in Pediatric Patients". The Pharmacogenomics Journal. 20 (3): 415–425. doi:10.1038/s41397-019-0130-0. hdl:2318/1757668. PMID 31792371. S2CID 208539277.
  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. S2CID 26765451.
  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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Further reading


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