SYNJ2

Synaptojanin 2 is a protein that in humans is encoded by the SYNJ2 gene.[5]

SYNJ2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UFW
Identifiers
Aliases	SYNJ2, INPP5H, synaptojanin 2
External IDs	OMIM: 609410 MGI: 1201671 HomoloGene: 117703 GeneCards: SYNJ2
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q25.3 Start 157,981,863 bp[1] End 158,099,176 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A1|17 3.59 cM Start 5,941,280 bp[2] End 6,044,290 bp[2]
Gene ontology Molecular function • phosphoric ester hydrolase activity • GO:0001948 protein binding • hydrolase activity • RNA binding • nucleic acid binding • phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity • phosphatidylinositol phosphate 4-phosphatase activity • phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity • phosphatidylinositol-3-phosphatase activity • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity • phosphatidylinositol phosphate 5-phosphatase activity • inositol-polyphosphate 5-phosphatase activity • SH3 domain binding • PDZ domain binding • phosphatidylinositol-4-phosphate phosphatase activity Cellular component • cytoplasm • membrane raft • axon • cytosol • cell membrane • cell projection • cytoskeleton • membrane • cytoplasmic microtubule • extrinsic component of mitochondrial outer membrane • ruffle membrane • axon terminus • perinuclear region of cytoplasm • presynapse Biological process • phosphatidylinositol biosynthetic process • phosphatidylinositol dephosphorylation • phosphatidylinositol-3-phosphate biosynthetic process • membrane organization • brain development • inositol phosphate dephosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8871	20975
Ensembl	ENSG00000078269	ENSMUSG00000023805
UniProt	O15056	Q9D2G5
RefSeq (mRNA)	NM_001178088 NM_003898	NM_001113351 NM_001113352 NM_001113353 NM_001290698 NM_011523 NM_001357665 NM_001357667
RefSeq (protein)	NP_001171559 NP_003889	NP_001106822 NP_001106823 NP_001106824 NP_001277627 NP_035653 NP_001344594 NP_001344596
Location (UCSC)	Chr 6: 157.98 – 158.1 Mb	Chr 17: 5.94 – 6.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010].

References

1. GRCh38: Ensembl release 89: ENSG00000078269 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023805 - 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. "Entrez Gene: Synaptojanin 2".

Further reading

• Luciano M, Lopez LM, de Moor MH, Harris SE, Davies G, Nutile T, Krueger RF, Esko T, Schlessinger D, Toshiko T, Derringer JL, Realo A, Hansell NK, Pergadia ML, Pesonen AK, Sanna S, Terracciano A, Madden PA, Penninx B, Spinhoven P, Hartman CA, Oostra BA, Janssens AC, Eriksson JG, Starr JM, Cannas A, Ferrucci L, Metspalu A, Wright MJ, Heath AC, van Duijn CM, Bierut LJ, Raikkonen K, Martin NG, Ciullo M, Rujescu D, Boomsma DI, Deary IJ (March 2012). "Longevity candidate genes and their association with personality traits in the elderly". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 159B (2): 192–200. doi:10.1002/ajmg.b.32013. PMC 3583011. PMID 22213687.
• Verweij KJ, Vinkhuyzen AA, Benyamin B, Lynskey MT, Quaye L, Agrawal A, Gordon SD, Montgomery GW, Madden PA, Heath AC, Spector TD, Martin NG, Medland SE (September 2013). "The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation". Addiction Biology. 18 (5): 846–50. doi:10.1111/j.1369-1600.2012.00478.x. PMC 3548058. PMID 22823124.
• Modregger J, Schmidt AA, Ritter B, Huttner WB, Plomann M (February 2003). "Characterization of Endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1". The Journal of Biological Chemistry. 278 (6): 4160–7. doi:10.1074/jbc.M208568200. PMID 12456676.
• Spaenij-Dekking EH, Van Delft J, Van Der Meijden E, Hiemstra HS, Falkenburg JH, Koning F, Drijfhout JW, Kluin-Nelemans JC (December 2003). "Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells". Leukemia. 17 (12): 2467–73. doi:10.1038/sj.leu.2403174. PMID 14562116.
• Chuang Y, Xu X, Kwiatkowska A, Tsapraillis G, Hwang H, Petritis K, Flynn D, Symons M (2012). "Regulation of synaptojanin 2 5'-phosphatase activity by Src". Cell Adhesion & Migration. 6 (6): 518–25. doi:10.4161/cam.22139. PMC 3547897. PMID 23076136.
• Wong KA, Wilson J, Russo A, Wang L, Okur MN, Wang X, Martin NP, Scappini E, Carnegie GK, O'Bryan JP (2012). "Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks". PLOS ONE. 7 (4): e36023. Bibcode:2012PLoSO...736023W. doi:10.1371/journal.pone.0036023. PMC 3338775. PMID 22558309.
• Jiao S, Hsu L, Berndt S, Bézieau S, Brenner H, Buchanan D, Caan BJ, Campbell PT, Carlson CS, Casey G, Chan AT, Chang-Claude J, Chanock S, Conti DV, Curtis KR, Duggan D, Gallinger S, Gruber SB, Harrison TA, Hayes RB, Henderson BE, Hoffmeister M, Hopper JL, Hudson TJ, Hutter CM, Jackson RD, Jenkins MA, Kantor ED, Kolonel LN, Küry S, Le Marchand L, Lemire M, Newcomb PA, Potter JD, Qu C, Rosse SA, Schoen RE, Schumacher FR, Seminara D, Slattery ML, Ulrich CM, Zanke BW, Peters U (2012). "Genome-wide search for gene-gene interactions in colorectal cancer". PLOS ONE. 7 (12): e52535. Bibcode:2012PLoSO...752535J. doi:10.1371/journal.pone.0052535. PMC 3530500. PMID 23300701.
• Warnatz HJ, Schmidt D, Manke T, Piccini I, Sultan M, Borodina T, Balzereit D, Wruck W, Soldatov A, Vingron M, Lehrach H, Yaspo ML (July 2011). "The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle". The Journal of Biological Chemistry. 286 (26): 23521–32. doi:10.1074/jbc.M111.220178. PMC 3123115. PMID 21555518.
• Chuang YY, Tran NL, Rusk N, Nakada M, Berens ME, Symons M (November 2004). "Role of synaptojanin 2 in glioma cell migration and invasion". Cancer Research. 64 (22): 8271–5. doi:10.1158/0008-5472.CAN-04-2097. PMID 15548694.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.