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

SYNJ2BP Gene

protein-coding   GIFtS: 47
GCID: GC14M070833

synaptojanin 2 binding protein
 Explore 9 diseases affiliated with
SYNJ2BP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SYNJ2BP    

Aliases
for SYNJ2BP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Synaptojanin 2 Binding Protein1 2     Arip21
OMP252 3 5     Activin Receptor Interacting Protein 52
Mitochondrial Outer Membrane Protein 252 3     Synaptojanin-2-Binding Protein2
ARIP22 5     

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


Summaries
for SYNJ2BP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Gene Wiki entry for SYNJ2BP


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  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 plasmid: SYNJ2BP 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: 14q22.1

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

Proteins
for SYNJ2BP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57105

    • SYNJ2BP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060843.2  
    ENSEMBL proteins: 
     ENSP00000256366  

    Human Recombinant Protein Products: 
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    Novus Biologicals SYNJ2BP Protein
    Novus Biologicals SYNJ2BP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 ----
    GO:0031307integral to mitochondrial outer membrane IEA--


    SYNJ2BP for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SYNJ2BP

    Protein Domains /
    Families
    for SYNJ2BP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SYNJ2BP for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry P57105

    ProtoNet protein and cluster: P57105

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

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


    Function
    for SYNJ2BP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone: SYNJ2BP
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNJ2BP
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNJ2BP (see all 43):
    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 plasmid: SYNJ2BP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008022protein C-terminus binding IEA--
    GO:0070699type II activin receptor binding ----


    SYNJ2BP for ontologies           About GeneDecksing



    Pathways & Interactions
    for SYNJ2BP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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 ----
    GO:0032926negative regulation of activin receptor signaling pathway ----
    GO:0032927positive regulation of activin receptor signaling pathway ----
    GO:0048312intracellular distribution of mitochondria IEA--
    GO:2000010positive regulation of protein localization to cell surface ----


    SYNJ2BP for ontologies           About GeneDecksing



    Drugs & Compounds
    for SYNJ2BP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about SYNJ2BP / SYJ2B 

    Transcripts
    for SYNJ2BP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate SYNJ2BP (see all 43):
    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 plasmid: SYNJ2BP 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYNJ2BP (see all 7)
    OriGene shRNA RFP: SYNJ2BP
    OriGene siRNA: SYNJ2BP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNJ2BP
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ2BP
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    Additional cDNA 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):

    AA481001 BX105405 CD677832 BU072260 BQ023154 BM799209 BM788927 BM974526 
    AA828403 W74556 AA430210 AA866190 AA761275 W46996 C02620 W56699 
    CB177908 CF130275 AW000893 BX426019 AA308541 BM840341 D62698 AA555224 

    GeneLoc Exon Structure


    Expression
    for SYNJ2BP gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACCCTGTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SYNJ2BP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ2BP

    Orthologs
    for SYNJ2BP gene

    (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 chordates.

    Orthologs for SYNJ2BP gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SYNJ2BP6
    		 Uncharacterized protein
    		 74(a)
    		 1 ↔ 1
    		 5(29721931-29727617)
    lizard
    (Anolis carolinensis)    		 Reptilia SYNJ2BP6
    		 --
    		 72(a)
    		 1 ↔ 1
    		 GL343318.1(1359572-1371181)
    zebrafish
    (Danio rerio)    		 Actinopterygii synj2bp1 synaptojanin 2 binding protein 56.34(n)
    54.93(a)    		   334599  NM_199917.1  NP_956211.1 


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

    Paralogs
    for SYNJ2BP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SYNJ2BP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/941 NCBI SNPs in SYNJ2BP are shown (see all 941)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1883616541,2
    		--70832752(+) TAAGGC/TGTTAT 4 -- int1 ds50010--------
    rs1920835771,2
    		--70832854(+) CCTCTA/CTATGC 4 -- ds5001 int10--------
    rs1846297771,2
    		--70832880(+) TGAAGA/GTAACA 4 -- int1 ds50010--------
    rs1878730391,2
    		--70832923(+) TAAATA/GAATAT 4 -- int1 ds50010--------
    rs1504129371,2
    		--70833000(+) TATCAA/GTGTCC 4 -- ds5001 int10--------
    rs1382119301,2
    		--70833213(+) AAAGAC/TTGTAA 4 -- int1 ut310--------
    rs1926444681,2
    		--70833269(+) CAATTA/TGACAC 4 -- int1 ut310--------
    rs1171848651,2
    		C,F,--70833331(+) TACCAT/CAGATT 4 -- int1 ut311Minor allele frequency- C:0.03EA 120
    rs10445411,2
    		--70833365(-) CACTAC/TGGATT 4 -- ut31 int13Minor allele frequency- T:0.00MN NA 188
    rs1889830761,2
    		--70833516(+) AGGAAG/TCAAAA 4 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for SYNJ2BP (70833213 - 70883807 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SYNJ2BP: --

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    Disorders / Diseases
    for SYNJ2BP gene

    (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.)
    About This Section
    SYNJ2BP for disorders           About GeneDecksing

    OMIM gene information: 609411    OMIM disorders: --

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

    Human Genome Epidemiology (HuGE) Navigator: SYNJ2BP (1 document)

    Export disorders for SYNJ2BP gene to outside databases

    Publications
    for SYNJ2BP gene

    (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 28):
    (articles sorted by number of sources associating them with SYNJ2BP)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Identification and characterization of human ARIP2 and its relation to breast cancer. (PubMed id 19349195)1, 9 Li Z.D....Li Y.X. (2009)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. 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)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    External Searches for SYNJ2BP gene

    (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)

    Genome Databases showing SYNJ2BP gene

    (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

    Other Databases showing SYNJ2BP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SYNJ2BP gene

    (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

    Intellectual Property
    for SYNJ2BP gene

    (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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