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

JAG2 Gene

protein-coding   GIFtS: 68
GCID: GC14M105607

Jagged 2

  See related diseases
at  

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

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

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 agnosia, and cleft lip, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 PEST Domain Mutants. 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 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 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 SABiosciences Chromatin IP Primers for JAG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: JAG2_HUMAN, Q9Y219 (See protein sequence)
Recommended Name: Protein jagged-2 precursor  
Size: 1238 amino acids; 133367 Da
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y219

  • JAG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JAG2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002217.3  NP_660142.1  

    ENSEMBL proteins: 
     ENSP00000328169   ENSP00000328566  
    Reactome Protein details: Q9Y219
    Human Recombinant Protein Products for JAG2: 
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    Novus Biologicals JAG2 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JAG2 

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

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

    JAG2 for ontologies           About GeneDecksing



    JAG2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     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


    JAG2 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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
         
    JAG2 for ontologies           About GeneDecksing


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

         15/16 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Jag2) (see all 16):
     cellular  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 

    JAG2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for JAG2 
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    SwitchGear 3'UTR luciferase reporter plasmidJAG2 3' UTR sequence
    Inhib. RNA
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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

    SuperPaths for JAG2 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    3Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
    Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor0.61
    Constitutive Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.50
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.61
    4NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.66
    5Signaling by NOTCH3
    Signaling by NOTCH30.83
    Signaling by NOTCH40.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for JAG2
        Development Notch Signaling Pathway

    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

    5/20        Reactome Pathways for JAG2 (see all 20)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    FBXW7 Mutants and NOTCH1 in Cancer
    Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 in Cancer
    Disease


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


    JAG2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/34 Interacting proteins for JAG2 (Q9Y2191, 2, 3 ENSP000003281694) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    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
    MFAP2P550013, ENSP000003646854I2D: score=1 STRING: ENSP00000364685
    MFNGO005873, ENSP000003494904I2D: score=1 STRING: ENSP00000349490
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    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 ----

    JAG2 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 JAG2

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    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_145159 NM_002226 CR618490 AF003521 Y14330 BC032053 AF029779 AF020201 
    AF029778 

    GeneLoc Exon Structure

    5/8 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™, 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

    JAG2 expression in normal human tissues (normalized intensities)      JAG2 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Human Brain Microvascular Endothelial Cells (HBMEC)   
             Septum   
     
     Endothelium (Cardiovascular System)    fully expand to see all 8 entries
             PureStem endothelial progenitor 30-MV2-12
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
             huvec   
     
     Hair (Integumentary System)    fully expand to see all 3 entries
             Fetal Medulla Cells Hair Shaft
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial progenitor 30-MV2-12
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
             oocyte   

    See JAG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAG2

    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

        SABiosciences Expression via Pathway-Focused 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

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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 JAG2 gene from 5/14 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 67.08(n)
    71.37(a)
      776138  XM_001235688.2  XP_001235689.2 
    lizard
    (Anolis carolinensis)
    Reptilia JAG26
    jagged 2
    66(a)
    1 ↔ 1
    1(77380-183510)
    zebrafish
    (Danio rerio)
    Actinopterygii jag22 jagged2 74.94(n)   140422  AF229449.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dl3
    Ser1
    antennal morphogenesis Notch binding3
    Serrate1
    41(a)
    (best of 4)3
    51.38(n)1
    41.12(a)1
      432751  NM_079803.21  NP_524527.31 


    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)
    About This Section
    Paralogs for JAG2 gene
    DLK22  SLIT22  SNED12  SLIT12  DLL32  DLL42  DLK12  JAG12  
    DNER2  SLIT32  SVEP12  DLL12  
    5 SIMAP similar genes for JAG2 using alignment to 1 protein entry:     JAG2_HUMAN:
    JAG1    CNTNAP2    DLL4    DLK1    DLL1

    JAG2 for paralogs           About GeneDecksing



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

    10/910 SNPs in JAG2 are shown (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) 10/30 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602570    OMIM disorders: --

    20 diseases for JAG2:    About MalaCards
    agnosia    cleft lip    myeloma    langerhans-cell histiocytosis
    multiple myeloma    cleft palate    histiocytosis    hirschsprung's disease
    chronic lymphocytic leukemia    macular degeneration    hypoxia    ataxia
    schizophrenia    hepatitis b    retinitis    endotheliitis
    hepatitis    leukemia    pancreatitis    breast cancer

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

    JAG2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for JAG2 gene, integrated from 9 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. (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. (1997)
    3. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (2010)
    4. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    5. Genetic variants in COL2A1, COL11A2, and IRF6 contrib ute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (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. (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. (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. (2006)
    9. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    10. Human ligands of the Notch receptor. (PubMed id 10079256)1, 2 Gray G.E.... Artavanis-Tsakonas S. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3714 HGNC: 6189 AceView: JAG2 Ensembl:ENSG00000184916 euGenes: HUgn3714
    ECgene: JAG2 Kegg: 3714 H-InvDB: JAG2

    (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 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
    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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