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

SYNJ2BP Gene

protein-coding   GIFtS: 48
GCID: GC14M070833

Synaptojanin 2 Binding Protein

  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 2 Binding Protein1 2
OMP252 3 5
Activin Receptor Interacting Protein 51 2
Mitochondrial Outer Membrane Protein 252 3
ARIP22 5
Synaptojanin-2-Binding Protein2

External Ids:    HGNC: 189551   Entrez Gene: 553332   Ensembl: ENSG000002134637   OMIM: 6094115   UniProtKB: P571053   

Export aliases for SYNJ2BP gene to outside databases

Previous GC identifers: GC14M068343 GC14M064635 GC14M068828 GC14M069908 GC14M051001


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

GeneCards Summary for SYNJ2BP Gene: 
SYNJ2BP (synaptojanin 2 binding protein) is a protein-coding gene. Diseases associated with SYNJ2BP include trench fever, and breast fibroadenoma. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is IL16.

Gene Wiki entry for SYNJ2BP Gene


(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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SYNJ2BP gene promoter:
         STAT1   p53   STAT1beta   STAT1alpha   IRF-2   STAT2   STAT3   FOXO1a   FOXO1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYNJ2BP promoter sequence
   Search SABiosciences Chromatin IP Primers for SYNJ2BP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNJ2BP


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

Entrez Gene cytogenetic band: 14q24.2   Ensembl cytogenetic band:  14q24.2   HGNC cytogenetic band: 14q24.2

SYNJ2BP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNJ2BP gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M070833:  view genomic region     (about GC identifiers)

Start:
70,833,213 bp from pter      End:
70,883,807 bp from pter
Size:
50,595 bases      Orientation:
minus 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: SYJ2B_HUMAN, P57105 (See protein sequence)
Recommended Name: Synaptojanin-2-binding protein  
Size: 145 amino acids; 15928 Da
Subunit: Binds (via the PDZ domain) to isoform 2A of SYNJ2 (via the unique motif in the C-terminus) (By
similarity). Interacts with MAPK12 (By similarity)
Subcellular location: Mitochondrion outer membrane (By similarity)
3 PDB 3D structures from and Proteopedia for SYNJ2BP:
2ENO (3D)        2JIK (3D)        2JIN (3D)    
Secondary accessions: Q49SH3 Q96IA4

Explore the universe of human proteins at neXtProt for SYNJ2BP: NX_P57105

Explore proteomics data for SYNJ2BP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P57105

  • SYNJ2BP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SYNJ2BP Protein Expression
    REFSEQ proteins: NP_060843.2  
    ENSEMBL proteins: 
     ENSP00000256366  

    Human Recombinant Protein Products for SYNJ2BP: 
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    Cloud-Clone Corp. Proteins for SYNJ2BP 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0009986cell surface IEA--
    GO:0031307integral to mitochondrial outer membrane IEA--

    SYNJ2BP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry P57105

    ProtoNet protein and cluster: P57105

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: SYJ2B_HUMAN, P57105
    Similarity: Contains 1 PDZ (DHR) domain


    SYNJ2BP 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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008022protein C-terminus binding IEA--
    GO:0070699type II activin receptor binding IEA--
         
    SYNJ2BP for ontologies           About GeneDecksing


    Animal Models:
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    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYNJ2BP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/12 Interacting proteins for SYNJ2BP (P571053 ENSP000002563664) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR2BQ137053, ENSP000003403614I2D: score=3 STRING: ENSP00000340361
    LRP1Q079543, ENSP000002430774I2D: score=3 STRING: ENSP00000243077
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    ACVR2AP270373, ENSP000002414164I2D: score=3 STRING: ENSP00000241416
    RALBP1Q153113, ENSP000000193174I2D: score=3 STRING: ENSP00000019317
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002092positive regulation of receptor internalization IEA--
    GO:0032926negative regulation of activin receptor signaling pathway IEA--
    GO:0032927positive regulation of activin receptor signaling pathway IEA--
    GO:0048312intracellular distribution of mitochondria IEA--
    GO:2000010positive regulation of protein localization to cell surface IEA--

    SYNJ2BP 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 SYNJ2BP (SYJ2B)

    Search CenterWatch for drugs/clinical trials and news about SYNJ2BP / SYJ2B

    (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 SYNJ2BP gene: 
    NM_018373.2  

    Unigene Clusters for SYNJ2BP:

    Synaptojanin 2 binding protein
    Hs.443661  [show with all ESTs], Hs.704691
    Unigene Representative Sequences: NM_018373, AK123967
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256366(uc001xmc.4) ENST00000554216
    miRNA
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    hsa-miR-136 hsa-miR-3194-5p hsa-miR-429 hsa-let-7d hsa-miR-1224-3p hsa-miR-628-3p hsa-miR-3921 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSYNJ2BP 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ2BP
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    Additional mRNA sequence: AK123967.1 

    10 DOTS entries:

    DT.453119  DT.40238289  DT.100709450  DT.120753710  DT.115067  DT.95270947  DT.120753728  DT.439074 
    DT.92427003  DT.91837378 

    24/511 AceView cDNA sequences (see all 511):

    AA806448 BE467399 W46996 BQ574836 CB145259 AA779631 AA481001 AA430210 
    W56699 AI094741 AI086431 Z38720 AA308541 AA866190 W74556 T79428 
    AI244218 CB177908 AA962803 BM799209 CR603483 BQ023253 BM974526 AV647874 

    GeneLoc Exon Structure


    (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

    SYNJ2BP expression in normal human tissues (normalized intensities)      SYNJ2BP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCCTGTTT
    SYNJ2BP Expression
    About this image


    SYNJ2BP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Thyroid (Endocrine System)
             parathyroid gland   
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad

    See SYNJ2BP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYNJ2BP

    SOURCE GeneReport for Unigene clusters: Hs.443661 Hs.704691
        SABiosciences Custom PCR Arrays for SYNJ2BP
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SYNJ2BP gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Synj2bp1 , 5 synaptojanin 2 binding protein1, 5 89.43(n)1
    91.03(a)1
      12 (37.73 cM)5
    240711  NM_025292.61  NP_079568.11 
     814979415 
    chicken
    (Gallus gallus)
    Aves SYNJ2BP6
    synaptojanin 2 binding protein
    66(a)
    1 ↔ 1
    5(26728772-26735600)
    lizard
    (Anolis carolinensis)
    Reptilia SYNJ2BP6
    --
    Uncharacterized protein
    72(a)
    18(a)
    1 ↔ 1
    possible ortholog
    GL343318.1(1359572-1371461)
    AAWZ02038699(257-10724)
    zebrafish
    (Danio rerio)
    Actinopterygii synj2bp1 synaptojanin 2 binding protein 56.34(n)
    54.93(a)
      334599  NM_199917.1  NP_956211.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mics-16
    Protein MICS-1
    13(a)
    1 ↔ 1
    V(10576514-10578324)


    ENSEMBL Gene Tree for SYNJ2BP (if available)
    TreeFam Gene Tree for SYNJ2BP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SYNJ2BP gene
    IL162  PDZD22  
    18/20 SIMAP similar genes for SYNJ2BP using alignment to 1 protein entry:     SYJ2B_HUMAN(see all similar genes):
    DLG3    DLG4    MPDZ    PTPN13    PDZD2    SCRIB
    DLG1    IL16    DLG2    ALS2CR19    PDZRN3    LIN7B
    LIN7C    MAGIX    PARD3B    MAGI1    MAGI3    MAGI2

    SYNJ2BP 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

    1 SNPs in SYNJ2BP are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0513944
    ----see VAR_0513942 V I mis40--------

    HapMap Linkage Disequilibrium report for SYNJ2BP (70833213 - 70883807 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SYNJ2BP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1345963CNV Insertion17803354
    esv1691671CNV Insertion17803354
    esv989380CNV Insertion20482838
    nsv902075CNV Gain21882294

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    (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: 609411    OMIM disorders: --

    9 diseases for SYNJ2BP:    About MalaCards
    trench fever    breast fibroadenoma    brucellosis    mucinous adenocarcinoma
    adenocarcinoma    prostate cancer    prostatitis    breast cancer
    neuronitis


    SYNJ2BP for disorders           About GeneDecksing

    Genetic Association Database (GAD): SYNJ2BP
    Human Genome Epidemiology (HuGE) Navigator: SYNJ2BP (1 document)

    Export disorders for SYNJ2BP 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 SYNJ2BP gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with SYNJ2BP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Regulation of endocytosis of activin type II receptors by a novel PDZ protein through Ral/Ral-binding protein 1-dependent pathway. (PubMed id 11882656)1, 3 Matsuzaki T....Sugino H. (2002)
    5. Identification and characterization of human ARIP2 and its relation to breast cancer. (PubMed id 19349195)1, 9 Li Z.D....Li Y.X. (2009)
    6. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55333 HGNC: 18955 AceView: C14orf112andSYNJ2BP Ensembl:ENSG00000213463 euGenes: HUgn55333
    ECgene: SYNJ2BP H-InvDB: SYNJ2BP

    (According to HUGE)
    About This Section
      --

    (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 SYNJ2BP 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 SYNJ2BP gene:
    Search GeneIP for patents involving SYNJ2BP

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



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