SYNJ2

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; OMA:SYNJ2 - orthologs
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 5,991,555 bp [2] End 6,094,565 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve internal globus pallidus C1 segment subthalamic nucleus medulla oblongata pons superior vestibular nucleus corpus callosum inferior olivary nucleus ventral tegmental area Top expressed in muscle of thigh spermatid primary visual cortex dentate gyrus of hippocampal formation granule cell ascending aorta soleus muscle right ventricle lumbar subsegment of spinal cord superior frontal gyrus temporal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function phosphoric ester hydrolase activity 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 plasma 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: 5.99 – 6.09 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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.