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SYNJ2 Gene

protein-coding   GIFtS: 66
GCID: GC06P158402

Synaptojanin 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SYNJ2
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys1432
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SYNJ2 (O15056) (see all 11)
     ALEGKAK  DCLDRTN  PFIRDVA  EANAPAF 


    See SYNJ2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    antibodies-online proteins for SYNJ2 (3 products) 

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

    Selected 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


    Find genes that share domains with SYNJ2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with SYNJ2           About GenesLikeMe


    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 

    Find genes that share phenotypes with SYNJ2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SYNJ2

    miRNA
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    miRTarBase miRNAs that target SYNJ2:
    hsa-mir-324-3p (MIRT042886), hsa-mir-1301-3p (MIRT036063)

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    Selected qRT-PCR 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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYNJ2_HUMAN, O15056: Membrane (By similarity). Note=Predominantly associated with the particulate fractions (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane3
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with SYNJ2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SYNJ2 About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    superpathway of inositol phosphate compounds0.60
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the plasma membrane0.65
    4Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    53-phosphoinositide degradation
    3-phosphoinositide degradation


    Find genes that share SuperPaths with SYNJ2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for SYNJ2
        Synthesis of PIPs at the plasma membrane


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SYNJ2
    Interactions:

        GeneGlobe Interaction Network for SYNJ2

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

    Selected Interacting proteins for SYNJ2 (O150561, 2, 3 ENSP000003477924) via UniProtKB, MINT, STRING, and/or I2D (see all 160)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B971, 2, 3, ENSP000003809214EBI-310513,EBI-346595 MINT-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:    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--

    Find genes that share ontologies with SYNJ2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    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 

    Selected AceView cDNA sequences (see all 138):

    AI467871 BM556283 BQ010337 AB002346 BM840757 CA450042 AW021035 AI014555 
    BM756160 BE379911 CA427486 BM999429 CA843516 CF264776 AF039945 BM847554 
    BU528223 AY152396 BE348342 BF431822 BI491987 BM555844 CR615784 BQ897614 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SYNJ2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Spinal Cord (Nervous System)
    SYNJ2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYNJ2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.434494
        Custom PCR Arrays for SYNJ2
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SYNJ2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Synj21 , 5 synaptojanin 21, 5 83.04(n)1
    84.6(a)1
      17 (3.59 cM)5
    209751  NM_001113353.11  NP_001106824.11 
     59412805 
    chicken
    (Gallus gallus)
    Aves SYNJ21 synaptojanin 2 71.76(n)
    74.26(a)
      421656  XM_003640916.2  XP_003640964.1 
    lizard
    (Anolis carolinensis)
    Reptilia SYNJ26
    synaptojanin 2
    68(a)
    1 ↔ 1
    1(213020707-213093986)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia synj21 synaptojanin 2 68.37(n)
    70.38(a)
      100216051  NM_001142039.1  NP_001135511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta synaptojanin3 synaptic vesicle endocytosis
    inositol-1,4,5-trisphosphate
    more
    47(a)   58B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-266
    Protein UNC-26, isoform c (unc-26) mRNA, complete ...
    39(a)
    1 → many
    IV(13261556-13272514) WBGene00006763
    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)
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    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

    Find genes that share paralogs with SYNJ2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SYNJ2 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609410    OMIM disorders: --

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

    Find genes that share disorders with SYNJ2           About GenesLikeMe

    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)
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    PubMed articles for SYNJ2 gene, integrated from 10 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. (Curr. Biol. 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. (Genome Res. 2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 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. (J. Biol. Chem. 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. (DNA Res. 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. (Cancer Genet. Cytogenet. 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. (Leukemia 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. (J. Biol. Chem. 2007)
    9. The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation. (PubMed id 22823124)1 Verweij K.J....Medland S.E. (Addict Biol 2013)
    10. Regulation of synaptojanin 2 5'-phosphatase activity by Src. (PubMed id 23076136)1 Chuang Y....Symons M. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8871 HGNC: 11504 AceView: SYNJ2 Ensembl:ENSG00000078269 euGenes: HUgn8871
    ECgene: SYNJ2 Kegg: 8871 H-InvDB: SYNJ2

    (According to HUGE)
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    HUGE: KIAA0348

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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