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JAG2 Gene

protein-coding   GIFtS: 71

GC14M104679
jagged 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    

Aliases &
Descriptions
for JAG2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
HJ2 2, 3
Jagged2 3
SER2 2
Descriptions
jagged 2 2
External Ids
HGNC: 61891
Entrez Gene: 37142
UniProtKB: Q9Y2193
Ensembl: ENSG000001849167
Search outside databases for aliases for JAG2 gene

Previous GC identifers: GC14M102987 GC14M099599 GC14M103579

Summaries
for JAG2

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

 EntrezGene summary for JAG2:
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]

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

Genomic Location
for JAG2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the JAG2 gene  

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)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M104679:     (about GC identifiers)

Start:
 104,679,121 bp from pter
End:
 104,706,206 bp from pter
Size:
 27,086 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  

Proteins
for JAG2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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   

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


ENSEMBL proteins: 
ENSP00000328566 ENSP00000328169 


Human Recombinant Proteins 
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R&D Systems Recombinant & Natural Proteins for JAG2 (Jagged 2)
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Recombinant Proteins from Abcam (Jagged 2)
Human Recombinant Proteins from Abnova (JAG2)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005624 membrane fraction IEA--
GO:0005887 integral to plasma membrane ISS10910909
GO:0016020 membrane IEA--
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Antibodies for JAG2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for JAG2
R&D Systems Antibodies for JAG2 (Jagged 2)
Cell Signaling Technology (CST) Antibodies for JAG2  (Jagged2)
Antibodies from Abcam (Jagged 2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (JAG2)
Novus Biologicals Antibodies for JAG2

Assays for JAG2: 
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Browse Kits and Assays available from Millipore
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Protein Domains/
Families
for JAG2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
5/12 InterPro domains/families (see all 12 ):
 IPR001438 EGF_2
 IPR001881 EGF_Ca_bd
 IPR001774 DSL
 IPR000742 EGF_3
 IPR013032 EGF-like_reg_CS


   GeneDecks  JAG2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9Y219

ProtoNet protein and cluster: Q9Y219

5 Blocks protein families:
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

Gene Function
for JAG2

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (JAG2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (JAG2)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002226

              Applied Biosystems Silencer® siRNAs for JAG2

              Sigma-Aldrich siRNA and siRNA Panels for JAG2  
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Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002226
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002226
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_002226 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_002226

UniProtKB/Swiss-Prot: 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

15 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Jag2):

craniofacialdigestive/alimentaryembryogenesishearing/vestibular/earhematopoietic system
homeostasis/metabolismimmune systemlethality-postnatallethality-prenatal/perinatallimbs/digits/tail
nervous systemreproductive systemrespiratory systemskeletonskin/coat/nails

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005112 Notch binding IPI9315665
GO:0005509 calcium ion binding IEA--
GO:0005515 protein binding IPI16713569
GO:0008083 growth factor activity IDA10383933
About this table

Pathways & Interactions
for JAG2

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Millipore Pathway for JAG2
 Development Notch Signaling Pathway

   GeneDecks  JAG2 for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  JAG2  (Your Favorite Gene powered by Ingenuity) 
 Notch Signaling

   GeneDecks  JAG2 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for JAG2):
 hsa04330 Notch signaling pathway

   GeneDecks  JAG2 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  JAG2 


5/32 Interacting proteins for JAG2 (ENSP000003281693 Q9Y2191, 2) via UniProtKB, MINT, and/or STRING (see all 32 )
InteractantInteraction Details
GeneCardExternal ID(s)
GFI1BQ5VTD91EBI-946223, EBI-946212
ATN1P542592MINT-2860136 MINT-2860117
NOTCH1ENSP000003607653STRING (score=.968)
NOTCH2ENSP000002566463STRING (score=.967)
NOTCH3ENSP000002633883STRING (score=.966)
About this table

5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001501 skeletal system development IEA--
GO:0001709 cell fate determination NAS--
GO:0007049 cell cycle NAS11549580
GO:0007154 cell communication IEA--
GO:0007219 Notch signaling pathway NAS11056013
About this table

Drugs & Compounds
for JAG2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JAG2

Transcripts
for JAG2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (JAG2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (JAG2)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002226

              Sigma-Aldrich siRNA and siRNA Panels for JAG2  
                     Sigma-Aldrich shRNA Panels and shRNA for JAG2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_002226  NM_145159  

REFSEQ mRNAs for JAG2 gene (2 alternative transcripts): 

NM_002226.3   NM_145159.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_002226  NM_145159  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_002226
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_002226
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_002226 

Additional cDNA sequence: 

AF003521.1 AF020201.1 AF029778.1 AF029779.1 BC032053.1 CR618490.1 Y14330.1 

5 DOTS entries:

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

9 AceView cDNA sequences:

CR618490 NM_145159 NM_002226 AF029778 AF029779 AF003521 BC032053 AF020201 
Y14330 

highest scoring ESTs for JAG2:

AF003521 AF020201 AF029778 AF029779 BC032053 Y14330 AA587904 AA854701 AA887741 AI124725 

Unigene Cluster for JAG2:

Jagged 2
Hs.433445  [show with all ESTs]
Unigene Representative Sequence: NM_002226


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for JAG2 (see all 8 )

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:                        

About this scheme

ECgene alternative splicing isoforms for JAG2

2 Ensembl transcripts including schematic representations:
ENST00000347004  ENST00000331782  

Expression
for JAG2

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

JAG2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for JAG2

1 / 2 / 3

5 probe-sets matching JAG2 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

32137_at2, 3 U133-A 1 1.00 1.00 1.00 1.00 Y14330 0.80 1.00 0.91 1

209784_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF029778 0.80 1.00 0.91 1

32137_at2, 3 U133-A 1 1.00 1.00 -- -- Y14330 0.80 1.00 0.91 1

209784_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

32137_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCTGTTGGTG

SOURCE GeneReport for Unigene cluster: Hs.433445

Expression variation in blood from EXPOLDB for JAG2

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

Orthologs
for JAG2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for JAG2 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
cow
(Bos taurus)		 JAG21   -- jagged 2 87.64(n)
89.39(a)		 517405  XM_595574.3  XP_595574.3 
rat
(Rattus norvegicus)		 Jag21   -- jagged 2 88.02(n)
90.95(a)		 29147  XM_343119.3  XP_343120.1 
mouse
(Mus musculus)		 Jag21, 5 12 (57.90 cM)5
 jagged 21, 5 87.35(n)1
90.47(a)1		 164501  NM_010588.11  NP_034718.11 
 AF0101375  AF0385725  (see all 13)
chicken
(Gallus gallus)		 JAG21   -- jagged 2 67(n)
71.2(a)		 776138  XM_001235688.1  XP_001235689.1 
zebrafish
(Danio rerio)		 jag22   -- jagged2 74.94(n) 140422  AF229449.1 
About this table        Species with no ortholog for JAG2

ENSEMBL Gene Tree for JAG2

Paralogs
for JAG2

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for JAG2 gene
JAG12  

SNPs/Variants
for JAG2

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/172 NCBI SNPs in JAG2 are shown (see all 172 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 95)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 14 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs37429431,2
A,C,F,H104679609(-) TCGGTG/AGGACT 2 -- ut31 ese312Minor allele frequency- A:0.16EA NA EU WA 2482
rs99722311,2
C,F,H104686693(+) AAGGTC/TGACAT 2 D/N mis1 ese38Minor allele frequency- T:0.31EU EA WA 840
rs7602691,2
A,C,F104679448(-) AAGGCC/TGGCAG 2 -- ut31 ese33Minor allele frequency- T:0.05MN NA 366
rs10577441,2
C,F,H104688087(-) GAGACG/AAGTGT 2 K/E mis1 ese37Minor allele frequency- A:0.40EA MN EU WA NA 2142
rs22382861,2
C,F,H104707157(-) ACCATA/GTGGGG 2 -- ng315Minor allele frequency- G:0.17EA EU WA 1914
rs7418591,2
A,C,F104679024(+) GCACGT/CGCCCC 2 -- ng514Minor allele frequency- C:0.38EA NA 1152
rs37842341,2
A,C104708201(-) AAATGC/TGTTTT 2 -- ng310--------
rs41463291,2
A,C104707590(+) CAAGCA/TGTGTT 2 -- ng310--------
rs41463281,2
A,C104707632(+) TGGGCA/GGTGAT 2 -- ng310--------
rs37842351,2
A,C104708175(-) GGGGCA/GAGGGT 2 -- ng310--------
About this table

HapMap Linkage Disequilibrium images for JAG2 (up to first 250kb)

Disorders & Mutations
for JAG2

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 602570

UniProtKB/Swiss-Prot: JAG2_HUMAN, Q9Y219
  • May be associated with Usher syndrome type IA (USHA1A) which describes a congenital
    sensory deafness associated with retinitis pigmentosa and feeble-mindedness

    • 1 Novoseek disease relationship for JAG2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloma 34.37 1 15292061 (1)
    About this table

    Human Gene Mutation Database: JAG2
    Genetic Association Database: JAG2
    Human Genome Epidemiology Navigator: JAG2 (4 documents)

    Medical News
    for JAG2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for JAG2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/34 PubMed articles for JAG2 gene (see all 34 ):

    Search for JAG2

    (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 JAG2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 3714 HGNC: 6189 AceView: JAG2 Ensembl:ENSG00000184916 euGenes: HUgn3714
    ECgene: JAG2 H-InvDB: JAG2

    Other Databases showing JAG2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing JAG2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for JAG2 Genetics and Cytogenetics in Oncology and Haematology

    Licensable Technologies
    for JAG2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for JAG2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for JAG2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



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     Recombinant Proteins
    (Jagged 2)
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     Search OriGene for JAG2
     Search Tocris compounds for JAG2




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     Antibodies for JAG2

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