Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SYNJ2 Gene

protein-coding   GIFtS: 65
GCID: GC06P158402

Synaptojanin 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Synaptojanin 21 2     INPP5H2
Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 22 3     Inositol Phosphate 5'-Phosphatase 22
EC 3.1.3.363 8     Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 22
KIAA03483 5     synaptojanin-22

External Ids:    HGNC: 115041   Entrez Gene: 88712   Ensembl: ENSG000000782697   OMIM: 6094105   UniProtKB: O150563   

Export aliases for SYNJ2 gene to outside databases

Previous GC identifers: GC06P157842 GC06P158276 GC06P158312 GC06P158373 GC06P158322 GC06P155875


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYNJ2 Gene:
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)

GeneCards Summary for SYNJ2 Gene: 
SYNJ2 (synaptojanin 2) is a protein-coding gene. Diseases associated with SYNJ2 include oculocerebrorenal syndrome, and hairy cell leukemia, and among its related super-pathways are Phosphatidylinositol signaling system and Metabolic pathways. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and RNA binding. An important paralog of this gene is INPP5E.

UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056
Function: Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction
pathways. May mediate the inhibitory effect of Rac1 on endocytosis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SYNJ2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYNJ2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SYNJ2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNJ2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

SYNJ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNJ2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P158402:  view genomic region     (about GC identifiers)

Start:
158,402,888 bp from pter      End:
158,520,208 bp from pter
Size:
117,321 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056 (See protein sequence)
Recommended Name: Synaptojanin-2  
Size: 1496 amino acids; 165538 Da
Subunit: Binds to GRB2. Isoform 2A binds to SYNJ2BP/OMP25. Isoform 2B2 C-terminal proline-rich region binds to a
variety of SH3 domain-containing proteins including SH3GL1, SH3GL2, SH3GL3 and GRB2
Subcellular location: Membrane (By similarity). Note=Predominantly associated with the particulate fractions (By
similarity)
Sequence caution: Sequence=AAH43277.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SYNJ2:
1UFW (3D)    
Secondary accessions: Q5TA13 Q5TA16 Q5TA19 Q86XK0 Q8IZA8 Q9H226
Alternative splicing: 3 isoforms:  O15056-1   O15056-2   O15056-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYNJ2: NX_O15056

Explore proteomics data for SYNJ2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15056

  • 4/11 DME Specific Peptides for SYNJ2 (O15056) (see all 11)
     ALEGKAK  DCLDRTN  PFIRDVA  EANAPAF 

    SYNJ2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SYNJ2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171559.1  NP_003889.1  

    ENSEMBL proteins: 
     ENSP00000347792   ENSP00000356080   ENSP00000411202   ENSP00000436657   ENSP00000356079  
     ENSP00000356089   ENSP00000356088   ENSP00000388371  
    Reactome Protein details: O15056
    Human Recombinant Protein Products for SYNJ2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SYNJ2
    OriGene Protein Over-expression Lysate for SYNJ2
    OriGene MassSpec for SYNJ2 
    OriGene Custom Protein Services for SYNJ2
    GenScript Custom Purified and Recombinant Proteins Services for SYNJ2
    Novus Biologicals SYNJ2 Proteins
    Novus Biologicals SYNJ2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SYNJ2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    SYNJ2 for ontologies           About GeneDecksing



    SYNJ2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SYNJ2
    OriGene Custom Antibody Services for SYNJ2
    GenScript Custom Superior Antibodies Services for SYNJ2
    Novus Biologicals SYNJ2 Antibodies
    Abcam antibodies for SYNJ2
    Cloud-Clone Corp. Antibodies for SYNJ2 
    ThermoFisher Antibodies for SYNJ2
    LSBio Antibodies in human, mouse, rat for SYNJ2 

    Assay Products for SYNJ2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SYNJ2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SYNJ2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SYNJ2 
    Cloud-Clone Corp. CLIAs for SYNJ2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: SYNJ2 
    Inositol polyphosphate phosphatases

    5/6 InterPro protein domains (see all 6):
     IPR005135 Endo/exonuclease/phosphatase
     IPR002013 Syja_N
     IPR000300 IPPc
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry O15056

    ProtoNet protein and cluster: O15056

    3 Blocks protein domains:
    IPB000300 Inositol polyphosphate related phosphatase family
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB002013 Synaptojanin


    UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056
    Similarity: Belongs to the synaptojanin family
    Similarity: In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family
    Similarity: Contains 1 RRM (RNA recognition motif) domain
    Similarity: Contains 1 SAC domain


    SYNJ2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYNJ2_HUMAN, O15056
    Function: Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction
    pathways. May mediate the inhibitory effect of Rac1 on endocytosis
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol
    4-phosphate + phosphate

         Enzyme Number (IUBMB): EC 3.1.3.361 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA--
    GO:0005515protein binding IPI15090612
         
    SYNJ2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SYNJ2:
     Decreased focal adhesion (FA)   Increased cell number in S and  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Synj2):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    SYNJ2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SYNJ2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SYNJ2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYNJ2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYNJ2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNJ2
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNJ2 (see all 9):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-519e* hsa-miR-511 hsa-miR-515-5p hsa-miR-633 hsa-miR-542-3p hsa-miR-4302
    SwitchGear 3'UTR luciferase reporter plasmidSYNJ2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SYNJ2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNJ2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SYNJ2
    Sirion Biotech Customized adenovirus for overexpression of SYNJ2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SYNJ2 (see all 14)
    OriGene ORF clones in mouse, rat for SYNJ2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SYNJ2 (NM_003898)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNJ2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNJ2
    Sirion Biotech Customized lentivirus for stable overexpression of SYNJ2 
                         Customized lentivirus expression plasmids for stable overexpression of SYNJ2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SYNJ2
    Search LifeMap BioReagents cell lines for SYNJ2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SYNJ2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    D-myo-inositol (1,4,5)-trisphosphate degradation0.65
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    3-phosphoinositide degradation0.33
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    4PI Metabolism
    PI Metabolism0.66
    Synthesis of PIPs at the plasma membrane0.66
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for SYNJ2 (see all 6)
        D-myo-inositol (1,4,5)-trisphosphate degradation
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    3-phosphoinositide degradation

    5        Reactome Pathways for SYNJ2
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    3         Kegg Pathways  (Kegg details for SYNJ2):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    SYNJ2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYNJ2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/93 Interacting proteins for SYNJ2 (O150561, 2, 3 ENSP000003477924) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-8109855 MINT-8109868 MINT-8109881 I2D: score=1 STRING: ENSP00000380921
    ABL1P005192, 3, ENSP000003614234MINT-8110827 I2D: score=3 STRING: ENSP00000361423
    PIK3R1P279862, 3, ENSP000002743354MINT-8112315 I2D: score=3 STRING: ENSP00000274335
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202203 I2D: score=1 STRING: ENSP00000250416
    SFNP319472, 3MINT-3976105 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046856phosphatidylinositol dephosphorylation IEA--

    SYNJ2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SYNJ2

    3 HMDB Compounds for SYNJ2    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about SYNJ2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SYNJ2 gene (2 alternative transcripts): 
    NM_001178088.1  NM_003898.3  

    Unigene Cluster for SYNJ2:

    Synaptojanin 2
    Hs.434494  [show with all ESTs]
    Unigene Representative Sequence: NM_003898
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355585(uc003qqx.2 uc003qqy.2 uc003qqz.2 uc003qra.2)
    ENST00000367113 ENST00000449320 ENST00000485863 ENST00000367112 ENST00000367122
    ENST00000367121(uc011efm.2 uc003qqw.2) ENST00000449859(uc011efn.1 uc010kjo.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNJ2
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNJ2 (see all 9):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-519e* hsa-miR-511 hsa-miR-515-5p hsa-miR-633 hsa-miR-542-3p hsa-miR-4302
    SwitchGear 3'UTR luciferase reporter plasmidSYNJ2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SYNJ2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNJ2
    Clone
    Products:
         
    OriGene clones in human, mouse for SYNJ2 (see all 14)
    OriGene ORF clones in mouse, rat for SYNJ2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SYNJ2 (NM_003898)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNJ2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNJ2
    Sirion Biotech Customized lentivirus for stable overexpression of SYNJ2 
                         Customized lentivirus expression plasmids for stable overexpression of SYNJ2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SYNJ2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SYNJ2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNJ2

    Additional mRNA sequence: 

    AB002346.2 AF039945.1 AF086449.1 AF318616.1 AK026758.1 AK074294.1 AK294480.1 AK296242.1 
    AK296935.1 AK309018.1 AL157424.1 AY152396.1 BC042971.2 BC043277.2 BX648749.1 

    16 DOTS entries:

    DT.95165899  DT.91796855  DT.213330  DT.95302482  DT.91902596  DT.65285050  DT.100646296  DT.200557 
    DT.91673119  DT.95123641  DT.95222681  DT.40114375  DT.97796462  DT.99933574  DT.121393252  DT.92019933 

    24/138 AceView cDNA sequences (see all 138):

    AY152396 AI467871 CR615784 CA843516 BQ010337 BQ897614 BF431822 BU528223 
    BM840757 BM999429 AI014555 AW021035 BM756160 AF039945 CA427486 AA722646 
    BE348342 BE379911 BI491987 CA450042 AB002346 BM555844 BM556283 BM847554 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ2 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:        -     -     -     -           -                       -                                                                                             
    SP4:                    -     -           -     -     -     -     -                             -     -                                                         
    SP5:                    -     -           -                                                                                                                     

    ExUns: 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30
    SP1:                                      -                                         -     -                                       
    SP2:                                                                                -                                             
    SP3:                                                                                                                              
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for SYNJ2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SYNJ2 expression in normal human tissues (normalized intensities)      SYNJ2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SYNJ2 Expression
    About this image


    SYNJ2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Human Cerebellar Astrocytes   
             Septum   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             reticulocytes   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             saliva   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             huvec   

    See SYNJ2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYNJ2

    SOURCE GeneReport for Unigene cluster: Hs.434494
        SABiosciences Custom PCR Arrays for SYNJ2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SYNJ2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SYNJ2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNJ2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SYNJ2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Synj21 , 5 synaptojanin 21, 5 83.07(n)1
    84.68(a)1
      17 (3.59 cM)5
    209751  NM_001113353.11  NP_001106824.11 
     59412805 
    chicken
    (Gallus gallus)
    Aves SYNJ21 synaptojanin 2 71.33(n)
    73.68(a)
      421656  XM_003640916.1  XP_003640964.1 
    lizard
    (Anolis carolinensis)
    Reptilia SYNJ26
    synaptojanin 2
    68(a)
    1 ↔ 1
    1(213020707-213093986)
    fruit fly
    (Drosophila melanogaster)
    Insecta synaptojanin3 synaptic vesicle endocytosis
    inositol-1,4,5-trisphosphate
    more
    47(a)   58B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-266
    cil-16
    Uncharacterized protein C50C3.7
    37(a)
    23(a)
    1 ↔ many
    possible ortholog
    IV(13261556-13272514)
    III(8159157-8161338)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes INP51(YIL002C)4 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase, more   --   9(353431-350591) 854815  NP_012264.1 


    ENSEMBL Gene Tree for SYNJ2 (if available)
    TreeFam Gene Tree for SYNJ2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SYNJ2 gene
    INPP5E2  INPPL12  INPP5B2  INPP5J2  SYNJ12  OCRL2  INPP5D2  INPP5K2  
    1 SIMAP similar gene for SYNJ2 using alignment to 6 protein entries:     SYNJ2_HUMAN (see all proteins):
    SYNJ1

    SYNJ2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2940 SNPs in SYNJ2 are shown (see all 2940)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs615290711,2
    C--155887269(+) TTTTT-/T/TT  
      TTTTTT
    GGGAC
    1 -- int11NA 2
    rs106829521,2
    C--155894546(+) TCCCC-/CCCC  
            
    AGCTC
    1 -- int10--------
    rs77657661,2
    C,F,A--155968075(+) TGTCCC/Tttttt 2 -- int1 trp32Minor allele frequency- T:0.50NA 4
    rs1470757631,2
    --158401856(+) GAGACA/GGAGGA 1 -- us2k10--------
    rs775273371,2
    C,F--158401883(+) CTTGAG/CTCTGA 1 -- us2k12Minor allele frequency- C:0.10CSA WA 119
    rs730141291,2
    C--158401892(+) GAGACA/GTGCAT 1 -- us2k10--------
    rs1820145331,2
    --158401978(+) TCTCAA/GTGGTA 1 -- us2k10--------
    rs117592101,2
    C,F,H--158402017(+) ATGGTG/CACTTG 1 -- us2k15Minor allele frequency- C:0.01NS EA NA 478
    rs1850434741,2
    --158402239(+) GCAACA/GTATGA 1 -- us2k10--------
    rs1899393311,2
    --158402313(+) CATTCC/TAGGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SYNJ2 (158402888 - 158520208 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SYNJ2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675122CNV Deletion23128226
    esv2732991CNV Deletion23290073
    esv2732992CNV Deletion23290073
    nsv5559CNV Loss18451855
    nsv886796CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SYNJ2
    DNA2.0 Custom Variant and Variant Library Synthesis for SYNJ2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609410    OMIM disorders: --

    6 diseases for SYNJ2:    About MalaCards
    oculocerebrorenal syndrome    hairy cell leukemia    t-cell leukemia    leukemia
    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SYNJ2:
    Oculocerebrorenal syndrome

    SYNJ2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SYNJ2

    Export disorders for SYNJ2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SYNJ2 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with SYNJ2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Synaptojanin 2, a novel Rac1 effector that regulates clathrin- mediated endocytosis. (PubMed id 11084340)1, 2, 9 Malecz N....Symons M. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. Identification and characterization of a synaptojanin 2 splice isoform predominantly expressed in nerve terminals. (PubMed id 11498538)1, 2 Nemoto Y.... De Camilli P. (2001)
    5. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    6. Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. (PubMed id 16102578)1, 9 Rossi M.R....Ionov Y. (2005)
    7. Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells. (PubMed id 14562116)1, 9 Spaenij-Dekking E.H....Kluin-Nelemans J.C. (2003)
    8. Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1. (PubMed id 17562712)1, 9 Ieguchi K....Satoh T. (2007)
    9. Regulation of synaptojanin 2 5'-phosphatase activity b y Src. (PubMed id 23076136)1 Chuang Y....Symons M. (2012)
    10. Evolutionary conserved longevity genes and human cogni tive abilities in elderly cohorts. (PubMed id 22045296)1 Lopez L.M....Deary I.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8871 HGNC: 11504 AceView: SYNJ2 Ensembl:ENSG00000078269 euGenes: HUgn8871
    ECgene: SYNJ2 Kegg: 8871 H-InvDB: SYNJ2

    (According to HUGE)
    About This Section
    HUGE: KIAA0348

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SYNJ2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SYNJ2 gene:
    Search GeneIP for patents involving SYNJ2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SYNJ2   OriGene RNAi products in human, mouse, rat for SYNJ2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SYNJ2  
     OriGene MassSpec something-or-other for SYNJ2   OriGene clones in human, mouse for SYNJ2  
     OriGene qSTAR qPCR primer pairs in human, mouse for SYNJ2   OriGene Purified Protein for SYNJ2  
     OriGene ORF clones in mouse, rat for SYNJ2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SYNJ2   OriGene Custom Protein Services for SYNJ2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SYNJ2
     QIAGEN SeqTarget long-range PCR primers for resequencing SYNJ2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNJ2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNJ2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNJ2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ2
     GenScript Custom Purified and Recombinant Proteins Services for SYNJ2 GenScript cDNA clones with any tag delivered in your preferred vector for SYNJ2
     GenScript Custom Assay Services for SYNJ2 GenScript Custom Superior Antibodies Services for SYNJ2
     GenScript Custom overexpressing Cell Line Services for SYNJ2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Search Regulatory tfbs for SYNJ2
     Search Chromatin IP Primers for SYNJ2
     RT2 qPCR Primer Assay in human, mouse, rat SYNJ2
     GNC Network for SYNJ2
     SABiosciences Custom PCR Arrays for SYNJ2
     Search Tocris compounds for SYNJ2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SYNJ2 antibodies
     SYNJ2 proteins
     SYNJ2 lysates
     Antibodies for SYNJ2
     See all of Abcam's Antibodies, Kits and Proteins for SYNJ2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SYNJ2
     Antibodies for SYNJ2
     ELISAs for SYNJ2
     CLIAs for SYNJ2
     Search LifeMap BioReagents cell lines for SYNJ2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ2
     SwitchGear 3'UTR luciferase reporter plasmids for SYNJ2
     SwitchGear Promoter luciferase reporter plasmids for SYNJ2
     ThermoFisher Antibodies for SYNJ2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNJ2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SYNJ2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SYNJ2
    Customized:
     lentivirus for stable overexpression of SYNJ2
     lentivirus expression plasmids for stable overexpression of SYNJ2
     adenovirus for overexpression of SYNJ2
     LSBio Antibodies in human, mouse, rat for SYNJ2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SYNJ2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4