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JAG2 Gene

protein-coding   GIFtS: 69
GCID: GC14M105607

Jagged 2

  See JAG2-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)
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Aliases
Jagged 21 2
HJ22
SER22
Protein Jagged-22
Jagged23
hJ23

External Ids:    HGNC: 61891   Entrez Gene: 37142   Ensembl: ENSG000001849167   OMIM: 6025705   UniProtKB: Q9Y2193   

Export aliases for JAG2 gene to outside databases

Previous GC identifers: GC14M102987 GC14M099599 GC14M103579 GC14M104679 GC14M085799


(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 JAG2 Gene:
The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic
development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell
fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related
receptors. Two transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for JAG2 Gene:
JAG2 (jagged 2) is a protein-coding gene. Diseases associated with JAG2 include ossifying fibroma, and shipyard eye. GO annotations related to this gene include Notch binding and calcium ion binding. An important paralog of this gene is DLK2.

UniProtKB/Swiss-Prot: JAG2_HUMAN, Q9Y219
Function: Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By
similarity)

Gene Wiki entry for JAG2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the JAG2 gene promoter:
         AhR   USF1   NF-1   MyoD   USF2   USF-1:USF-2   E47   HEN1   USF-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAG2 promoter sequence
   Search Chromatin IP Primers for JAG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JAG2


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

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32

JAG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAG2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M105607:  view genomic region     (about GC identifiers)

Start:
105,607,318 bp from pter      End:
105,635,161 bp from pter
Size:
27,844 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: JAG2_HUMAN, Q9Y219 (See protein sequence)
Recommended Name: Protein jagged-2 precursor  
Size: 1238 amino acids; 133367 Da
Secondary accessions: Q9UE17 Q9UE99 Q9UNK8 Q9Y6P9 Q9Y6Q0
Alternative splicing: 2 isoforms:  Q9Y219-1   Q9Y219-2   

Explore the universe of human proteins at neXtProt for JAG2: NX_Q9Y219

Explore proteomics data for JAG2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn153, Asn570, Asn619, Asn752, Asn1058
  • Modification sites at PhosphoSitePlus

  • See JAG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002217.3  NP_660142.1  

    ENSEMBL proteins: 
     ENSP00000328169   ENSP00000328566  
    Reactome Protein details: Q9Y219

    JAG2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for JAG2

     
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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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    Selected InterPro protein domains (see all 10):
     IPR001774 DSL
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR011651 Notch_ligand_N

    Graphical View of Domain Structure for InterPro Entry Q9Y219

    ProtoNet protein and cluster: Q9Y219

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001007 von Willebrand factor
    IPB001774 Delta/Serrate/lag-2 (DSL) protein
    IPB001881 EGF-like calcium-binding
    IPB011651 Notch ligand


    UniProtKB/Swiss-Prot: JAG2_HUMAN, Q9Y219
    Similarity: Contains 1 DSL domain
    Similarity: Contains 16 EGF-like domains
    Similarity: Contains 1 VWFC domain


    Find genes that share domains with JAG2           About GenesLikeMe


    (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,
    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: JAG2_HUMAN, Q9Y219
    Function: Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By
    similarity)

         Genatlas biochemistry entry for JAG2:
    NOTCH1 ligand,homolog to rat jagged 2 and Drosophila serrate,Dres30,mouse homolog,expressed in high levels in
    embryonic limb buds,first branchial arch,developing cochlea and the organ of Corti,central and peripheral nervous
    system,retina,tooth buds,thymus,submandilas gland,stomach

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005112Notch binding IPI9315665
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16713569
    GO:0008083growth factor activity IDA10383933
         
    Find genes that share ontologies with JAG2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for JAG2:
     Increased S DNA content  Increased gamma-H2AX phosphory  Increased number of mitotic ce 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Jag2):
     craniofacial  digestive/alimentary  embryogenesis  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 
     nervous system  no phenotypic analysis  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with JAG2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for JAG2: Jag2tm1Grid Jag2tm2.2Grid

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JAG2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JAG2

    miRNA
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    miRTarBase miRNAs that target JAG2:
    hsa-mir-335-5p (MIRT016805), hsa-mir-92a-3p (MIRT049515), hsa-mir-484 (MIRT042161), hsa-mir-124-3p (MIRT022161)

    Block miRNA regulation of human, mouse, rat JAG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JAG2 (see all 30):
    hsa-miR-30c hsa-miR-4254 hsa-miR-3607-3p hsa-miR-429 hsa-miR-520d-5p hsa-miR-300 hsa-miR-30d hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidJAG2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat JAG2

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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
    JAG2_HUMAN, Q9Y219: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    cytoskeleton1
    cytosol1
    extracellular1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS10910909
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with JAG2           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 JAG2 About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Signaling by NOTCH30.00
    Notch Signaling Pathway0.84
    Signaling by NOTCH40.00
    Delta-Notch Signaling Pathway0.33
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    3Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant0.00
    Signaling by NOTCH20.67
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.00
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    4Signaling by GPCR
    Signal Transduction0.58
    5Development NOTCH1 mediated pathway for NF KB activity modulation
    Development Notch Signaling Pathway0.50


    Find genes that share SuperPaths with JAG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for JAG2
        Notch Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for JAG2
        Wnt / Hedgehog / Notch

    1 GeneGo (Thomson Reuters) Pathway for JAG2
        Development Notch Signaling Pathway

    3 BioSystems Pathways for JAG2
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Notch signaling pathway

    Selected Reactome Pathways for JAG2 (see all 8)
        NOTCH2 Activation and Transmission of Signal to the Nucleus
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    Signaling by NOTCH4
    Constitutive Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    Signaling by NOTCH3


    1 Kegg Pathway  (Kegg details for JAG2):
        Notch signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JAG2: 
              Growth Factors in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for JAG2

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

    Selected Interacting proteins for JAG2 (Q9Y2191, 2, 3 ENSP000003281694) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD91, 2, 3, ENSP000003447824EBI-946223,EBI-946212 MINT-2860155 MINT-2856213 I2D: score=3 STRING: ENSP00000344782
    ATN1P542592, 3, ENSP000003490764MINT-2860136 MINT-2860117 I2D: score=3 STRING: ENSP00000349076
    NOTCH2Q047213, ENSP000002566464I2D: score=4 STRING: ENSP00000256646
    FJX1Q86VR83, ENSP000004002234I2D: score=1 STRING: ENSP00000400223
    MFAP2P550013, ENSP000003646854I2D: score=1 STRING: ENSP00000364685
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    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0003016respiratory system process IEA--
    GO:0007049cell cycle NAS11549580
    GO:0007154cell communication ----

    Find genes that share ontologies with JAG2           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JAG2



    (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 JAG2 gene (2 alternative transcripts): 
    NM_002226.4  NM_145159.2  

    Unigene Cluster for JAG2:

    Jagged 2
    Hs.433445  [show with all ESTs]
    Unigene Representative Sequence: NM_002226
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331782(uc001yqf.3 uc001yqg.3) ENST00000347004(uc001yqh.3)
    ENST00000546616 ENST00000553244 ENST00000553051
    miRNA
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    hsa-miR-30c hsa-miR-4254 hsa-miR-3607-3p hsa-miR-429 hsa-miR-520d-5p hsa-miR-300 hsa-miR-30d hsa-miR-624
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      QuantiFast Probe-based Assays in human, mouse, rat JAG2

    Additional mRNA sequence: 

    AF003521.1 AF020201.1 AF029778.1 AF029779.1 BC032053.1 Y14330.1 

    5 DOTS entries:

    DT.100747349  DT.444013  DT.97833334  DT.120762392  DT.92057622 

    9 AceView cDNA sequences:

    NM_002226 NM_145159 CR618490 AF020201 AF029778 BC032053 AF029779 Y14330 
    AF003521 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for JAG2 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20b ^ 21 ^ 22 ^ 23
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for JAG2

    (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)
    About This Section

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    JAG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGTTGGTG
    JAG2 Expression
    About this image


    JAG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord Cells Notochord
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Cartilage (Muscoskeletal System)
             Notochord Cells Notochord
    JAG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JAG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433445

    UniProtKB/Swiss-Prot: JAG2_HUMAN, Q9Y219
    Tissue specificity: Expressed in heart, placenta and skeletal muscle and to a lesser extend in pancreas. Very low
    expression in brain, lung, liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JAG2: 
              Growth Factors in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAG2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for JAG2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jag21 , 5 jagged 21, 5 87.37(n)1
    90.55(a)1
      12 (61.37 cM)5
    164501  NM_010588.21  NP_034718.21 
     1129085905 
    chicken
    (Gallus gallus)
    Aves JAG21 jagged 2 66.81(n)
    71.09(a)
      776138  XM_001235688.3  XP_001235689.2 
    lizard
    (Anolis carolinensis)
    Reptilia JAG26
    jagged 2
    66(a)
    1 ↔ 1
    1(77380-183510)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia jag21 jagged 2 64.44(n)
    65.99(a)
      100497180  XM_002938799.2  XP_002938845.2 
    zebrafish
    (Danio rerio)
    Actinopterygii jag22 jagged2 74.94(n)   140422  AF229449.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dl3 antennal morphogenesis Notch binding 41(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea W02C12.13 EGF-like protein 35(a)
    (best of 4)
      IV(4008218-4014159)   --


    ENSEMBL Gene Tree for JAG2 (if available)
    TreeFam Gene Tree for JAG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JAG2 gene
    DLK22  SNED12  NOTCH42  NOTCH12  DLL32  NOTCH32  CRB22  DLL42  
    DLK12  NOTCH22  JAG12  DNER2  CRB12  DLL12  
    5 SIMAP similar genes for JAG2 using alignment to 1 protein entry:     JAG2_HUMAN:
    JAG1    CNTNAP2    DLL4    DLK1    DLL1

    Find genes that share paralogs with JAG2           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 JAG2 (see all 910)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855829521,2
    --105606843(+) TGCATG/TTGGTT 2 -- ds50010--------
    rs1457867101,2
    C--105606888(+) ACACCA/GTTTAA 2 -- ds50010--------
    rs1904867871,2
    --105607091(+) CTTGTA/GAGCAA 2 -- ds50010--------
    rs28166761,2
    C,A--105607203(+) GAGACC/TGTCCC 2 -- ds50018Minor allele frequency- T:0.22NA WA CSA EA 367
    rs1129209511,2
    C--105607204(+) AGACTA/GTCCCT 2 -- ds50011Minor allele frequency- G:0.00CSA 1
    rs28166391,2
    C--105607205(+) GACTGC/TCCCTC 2 -- ds50018Minor allele frequency- T:0.19NA WA CSA EA 367
    rs1382434791,2
    --105607270(+) TCAACA/GACAGA 2 -- ds50010--------
    rs1491592591,2
    C--105607304(+) ACGAGC/TGGGTC 2 -- ds50010--------
    rs1915135441,2
    --105607305(+) CGAGCA/GGGTCT 2 -- ds50010--------
    rs1837012621,2
    --105607422(+) TCTTTG/TGTACA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for JAG2 (105607318 - 105635161 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for JAG2 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662212CNV Deletion23128226
    dgv414e199CNV Deletion23128226
    esv1065091CNV Insertion17803354
    esv2595277CNV Insertion19546169
    dgv2021n71CNV Loss21882294
    dgv2025n71CNV Loss21882294
    esv32995CNV Loss17666407
    dgv2029n71CNV Loss21882294
    dgv2028n71CNV Loss21882294
    nsv456461CNV Loss19166990

    Human Gene Mutation Database (HGMD): JAG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JAG2
    DNA2.0 Custom Variant and Variant Library Synthesis for JAG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602570    OMIM disorders: --

    5 diseases for JAG2:    
    About MalaCards
    ossifying fibroma    shipyard eye    pain agnosia    fibroma
    agnosia

    3 diseases from the University of Copenhagen DISEASES database for JAG2:
    Shipyard eye     Cleft palate     Pain agnosia

    Find genes that share disorders with JAG2           About GenesLikeMe

    2 Novoseek inferred disease relationships for JAG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloma 41.9 1 15292061 (1)
    tumors 0 2 20133585 (1), 19840488 (1)

    Genetic Association Database (GAD): JAG2
    Human Genome Epidemiology (HuGE) Navigator: JAG2 (9 documents)

    Export disorders for JAG2 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 JAG2 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with JAG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene. (PubMed id 10662552)1, 2, 3, 9 Deng Y....Li L. (Genomics 2000)
    2. Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor. (PubMed id 9315665)1, 2, 3, 9 Luo B.... Sklar J. (Mol. Cell. Biol. 1997)
    3. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (Eur. J. Oral Sci. 2010)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    6. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (Psychiatry Res 2009)
    7. Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study. (PubMed id 19049519)1, 4 Scapoli L....Carinci F. (Eur. J. Oral Sci. 2008)
    8. Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PubMed id 16899352)1, 4 Passos Gregorio S....Dias-Neto E. (Schizophr. Res. 2006)
    9. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (PLoS Genet. 2005)
    10. Human ligands of the Notch receptor. (PubMed id 10079256)1, 2 Gray G.E.... Artavanis-Tsakonas S. (Am. J. Pathol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3714 HGNC: 6189 AceView: JAG2 Ensembl:ENSG00000184916 euGenes: HUgn3714
    ECgene: JAG2 Kegg: 3714 H-InvDB: JAG2

    (According to HUGE)
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      --

    (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 JAG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JAG2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for JAG2 gene:
    Search GeneIP for patents involving JAG2

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



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