PACSIN2

PACSIN2
Identifiers
Aliases	PACSIN2, SDPII, protein kinase C and casein kinase substrate in neurons 2
External IDs	OMIM: 604960; MGI: 1345153; GeneCards: PACSIN2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3ABH, 3ACO, 3HAJ, 3Q0K
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
Databases	NCBI: entry; OMA: entry
	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.

Clinical significance

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.

Interactions

PACSIN2 has been shown to interact with:

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100266 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000016664 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Ritter B, Modregger J, Paulsson M, Plomann M (August 1999). "PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins". FEBS Letters. 454 (3): 356–362. doi:10.1016/S0014-5793(99)00830-3. PMID 10431838. S2CID 44788141.
1 2 3 Modregger J, Ritter B, Witter B, Paulsson M, Plomann M (January 2001). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". Journal of Cell Science. 113 (24): 4511–4521. doi:10.1242/jcs.113.24.4511. PMID 11082044.
↑ "Entrez Gene: PACSIN2 protein kinase C and casein kinase substrate in neurons 2".
↑ 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.
↑ Franca R, Stocco G, Favretto D, Giurici N, Del Rizzo I, Locatelli F, et al. (June 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.
↑ Ghadimi MP, Sanzenbacher R, Thiede B, Wenzel J, Jing Q, Plomann M, et al. (May 2002). "Identification of interaction partners of the cytosolic polyproline region of CD95 ligand (CD178)". FEBS Letters. 519 (1–3): 50–58. doi:10.1016/s0014-5793(02)02709-6. PMID 12023017. S2CID 26765451.
↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
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, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10) R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
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". Journal of Cell Science. 119 (Pt 8): 1504–1516. doi:10.1242/jcs.02877. PMID 16551695.
Cuajungco MP, Grimm C, Oshima K, D'hoedt D, Nilius B, Mensenkamp AR, et al. (2006). "PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4". The Journal of Biological Chemistry. 281 (27): 18753–18762. doi:10.1074/jbc.M602452200. hdl:2066/51163. PMID 16627472.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000100266 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[Ritter_1999-5] Ritter B, Modregger J, Paulsson M, Plomann M (August 1999). "PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins". FEBS Letters. 454 (3): 356–362. doi:10.1016/S0014-5793(99)00830-3. PMID 10431838. S2CID 44788141.

[Modregger_2001-6] 1 2 3 Modregger J, Ritter B, Witter B, Paulsson M, Plomann M (January 2001). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". Journal of Cell Science. 113 (24): 4511–4521. doi:10.1242/jcs.113.24.4511. PMID 11082044.

[entrez-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 R, Stocco G, Favretto D, Giurici N, Del Rizzo I, Locatelli F, et al. (June 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.

[Ghadimi_2002-10] Ghadimi MP, Sanzenbacher R, Thiede B, Wenzel J, Jing Q, Plomann M, et al. (May 2002). "Identification of interaction partners of the cytosolic polyproline region of CD95 ligand (CD178)". FEBS Letters. 519 (1–3): 50–58. doi:10.1016/s0014-5793(02)02709-6. PMID 12023017. S2CID 26765451.

[Rual_2005-11] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

PACSIN2

Clinical significance

Interactions

References

Further reading