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Aliases for JAG2 Gene

Aliases for JAG2 Gene

  • Jagged 2 2 3 5
  • HJ2 3 4
  • Protein Jagged-2 3
  • Jagged2 4
  • SER2 3

External Ids for JAG2 Gene

Previous GeneCards Identifiers for JAG2 Gene

  • GC14M102987
  • GC14M099599
  • GC14M103579
  • GC14M104679
  • GC14M105607
  • GC14M085799

Summaries for JAG2 Gene

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. Among its related pathways are Signaling by NOTCH1 and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is JAG1.

UniProtKB/Swiss-Prot for JAG2 Gene

  • Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).

Gene Wiki entry for JAG2 Gene

Additional gene information for JAG2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAG2 Gene

Genomics for JAG2 Gene

GeneHancer (GH) Regulatory Elements for JAG2 Gene

Promoters and enhancers for JAG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I105165 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1439 3.6 PKNOX1 ATF1 ARNT SIN3A GLIS2 ZNF213 ATF7 SP3 SMARCB1 ZNF592 JAG2 NUDT14 ENSG00000257622 MIR6765
GH14I105169 Enhancer 0.8 ENCODE 550.8 -0.5 -475 0.2 HDAC1 ATF1 RB1 SIN3A RAD21 GLIS2 EGR1 ATF7 EGR2 SMARCA5 JAG2 ENSG00000257622 PIR46609
GH14I105058 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +105.6 105639 10 HDGF ATF1 PKNOX1 SMAD1 BATF KLF5 IRF4 ZNF143 ZNF207 ATF7 GPR132 AHNAK2 CDCA4 JAG2 NUDT14 CLBA1 TEDC1 PLD4 BRF1 GC14P105040
GH14I105312 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.6 -146.6 -146613 5.4 PKNOX1 SREBF2 ARID4B SIN3A THRB ZNF48 ZBTB40 ZNF335 ZNF766 GLIS2 BRF1 PACS2 MTA1 ENSG00000225200 ENSG00000257270 TEX22 NUDT14 JAG2 GC14M105304
GH14I105068 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +98.6 98635 2.8 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ATF7 ETV6 GPR132 JAG2 NUDT14 CLBA1 CRIP1 LINC02298
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JAG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JAG2 gene promoter:

Genomic Locations for JAG2 Gene

Genomic Locations for JAG2 Gene
chr14:105,140,981-105,168,824
(GRCh38/hg38)
Size:
27,844 bases
Orientation:
Minus strand
chr14:105,607,318-105,635,161
(GRCh37/hg19)

Genomic View for JAG2 Gene

Genes around JAG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAG2 Gene

Proteins for JAG2 Gene

  • Protein details for JAG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y219-JAG2_HUMAN
    Recommended name:
    Protein jagged-2
    Protein Accession:
    Q9Y219
    Secondary Accessions:
    • Q9UE17
    • Q9UE99
    • Q9UNK8
    • Q9Y6P9
    • Q9Y6Q0

    Protein attributes for JAG2 Gene

    Size:
    1238 amino acids
    Molecular mass:
    133367 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for JAG2 Gene

    Alternative splice isoforms for JAG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAG2 Gene

Post-translational modifications for JAG2 Gene

  • Glycosylation at posLast=153153, isoforms=2570, isoforms=2619, posLast=752752, and posLast=10581058

Other Protein References for JAG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JAG2 Gene

Domains & Families for JAG2 Gene

Gene Families for JAG2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for JAG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with JAG2: view

No data available for UniProtKB/Swiss-Prot for JAG2 Gene

Function for JAG2 Gene

Molecular function for JAG2 Gene

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

Gene Ontology (GO) - Molecular Function for JAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IPI 9315665
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16713569
GO:0008083 growth factor activity IDA 10383933
genes like me logo Genes that share ontologies with JAG2: view
genes like me logo Genes that share phenotypes with JAG2: view

Animal Models for JAG2 Gene

MGI Knock Outs for JAG2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JAG2 Gene

Localization for JAG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAG2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAG2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS 10910909
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with JAG2: view

Pathways & Interactions for JAG2 Gene

genes like me logo Genes that share pathways with JAG2: view

SIGNOR curated interactions for JAG2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for JAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0003016 respiratory system process IEA --
GO:0007049 cell cycle NAS 11549580
GO:0007154 cell communication IEA --
genes like me logo Genes that share ontologies with JAG2: view

Drugs & Compounds for JAG2 Gene

No Compound Related Data Available

Transcripts for JAG2 Gene

mRNA/cDNA for JAG2 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for JAG2 Gene

Jagged 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAG2 Gene

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:
SP6:
SP7: -
SP8: - -

ExUns: 20b ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for JAG2 Gene

GeneLoc Exon Structure for
JAG2
ECgene alternative splicing isoforms for
JAG2

Expression for JAG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JAG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JAG2 Gene

This gene is overexpressed in Platelet (48.8) and Heart (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JAG2 Gene



Protein tissue co-expression partners for JAG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JAG2 Gene:

JAG2

SOURCE GeneReport for Unigene cluster for JAG2 Gene:

Hs.433445

mRNA Expression by UniProt/SwissProt for JAG2 Gene:

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

Evidence on tissue expression from TISSUES for JAG2 Gene

  • Nervous system(4.5)
  • Heart(4.4)
  • Bone marrow(4.3)
  • Skin(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with JAG2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for JAG2 Gene

Orthologs for JAG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for JAG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAG2 33 34
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Jag2 33
  • 88.09 (n)
cow
(Bos Taurus)
Mammalia JAG2 33 34
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Jag2 33 16 34
  • 87.37 (n)
dog
(Canis familiaris)
Mammalia JAG2 33 34
  • 81.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JAG2 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAG2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAG2 33 34
  • 66.81 (n)
lizard
(Anolis carolinensis)
Reptilia JAG2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jag2 33
  • 64.44 (n)
zebrafish
(Danio rerio)
Actinopterygii jag2b 33 34
  • 64.1 (n)
JAG2 (1 of 3) 34
  • 56 (a)
OneToMany
CABZ01041002.1 34
  • 42 (a)
OneToMany
jag2 33
fruit fly
(Drosophila melanogaster)
Insecta Dl 35
  • 41 (a)
SP1070 35
  • 36 (a)
C901 35
  • 33 (a)
Ser 35 34
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea W02C12.1 35
  • 35 (a)
apx-1 35
  • 33 (a)
R05G6.9 35
  • 29 (a)
Y69H2.11 35
  • 27 (a)
clec-78 34
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for JAG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JAG2 Gene

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

Paralogs for JAG2 Gene

Paralogs for JAG2 Gene

(5) SIMAP similar genes for JAG2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with JAG2: view

Variants for JAG2 Gene

Sequence variations from dbSNP and Humsavar for JAG2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs587632836 benign, not specified 105,168,370(-) CAGCAGCAGCAGCAGC/CAGCAGCAGCAGC/CAGCAGCAGCAGCAGCAGC coding_sequence_variant, inframe_deletion, inframe_insertion, non_coding_transcript_variant
rs1000061038 -- 105,159,078(-) C/A intron_variant
rs1000088191 -- 105,166,744(-) G/A intron_variant
rs1000329828 -- 105,160,076(-) A/C intron_variant
rs1000367024 -- 105,168,546(-) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for JAG2 Gene

Variant ID Type Subtype PubMed ID
nsv566150 CNV loss 21841781
nsv517055 CNV gain+loss 19592680
nsv470679 CNV loss 18288195
nsv456461 CNV loss 19166990
nsv456460 CNV loss 19166990
nsv456458 CNV loss 19166990
nsv1143761 CNV deletion 24896259
nsv1143760 CNV deletion 24896259
nsv1125599 CNV tandem duplication 24896259
nsv1078209 CNV insertion 25765185
nsv1071179 CNV deletion 25765185
nsv1070245 CNV deletion 25765185
nsv1054574 CNV loss 25217958
nsv1052190 CNV gain 25217958
nsv1042303 CNV gain 25217958
esv9102 CNV gain 19470904
esv3635634 CNV gain 21293372
esv3399353 CNV insertion 20981092
esv32995 CNV loss 17666407
esv2856458 CNV duplication 24192839
esv2760014 CNV loss 17122850
esv2662212 CNV deletion 23128226
esv2595277 CNV insertion 19546169
esv24764 CNV loss 19812545
esv1065091 CNV insertion 17803354
dgv414e199 CNV deletion 23128226
dgv3982n54 CNV loss 21841781
dgv3981n54 CNV gain 21841781
dgv3980n54 CNV gain 21841781
dgv3979n54 CNV loss 21841781
dgv3978n54 CNV loss 21841781
dgv3977n54 CNV loss 21841781
dgv3976n54 CNV loss 21841781
dgv3975n54 CNV loss 21841781
dgv267n27 CNV loss 19166990
nsv952279 CNV deletion 24416366
nsv9175 CNV gain 18304495
nsv817646 CNV loss 17921354
nsv566183 CNV loss 21841781
nsv566182 CNV gain+loss 21841781
nsv566177 CNV gain 21841781
nsv566175 CNV loss 21841781
nsv566174 CNV gain 21841781
nsv566161 CNV loss 21841781
nsv566156 CNV loss 21841781
nsv566153 CNV loss 21841781
nsv566152 CNV loss 21841781

Variation tolerance for JAG2 Gene

Residual Variation Intolerance Score: 8.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.13; 75.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAG2 Gene

Human Gene Mutation Database (HGMD)
JAG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAG2 Gene

Disorders for JAG2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for JAG2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ossifying fibroma
  • fibro-osteoma
shipyard eye
  • ekc
popliteal pterygium syndrome
  • pps
orofacial cleft
- elite association - COSMIC cancer census association via MalaCards
Search JAG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for JAG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with JAG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JAG2 Gene

Publications for JAG2 Gene

  1. Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene. (PMID: 10662552) Deng Y … Li L (Genomics 2000) 2 3 4 22 58
  2. Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor. (PMID: 9315665) Luo B … Sklar J (Molecular and cellular biology 1997) 2 3 4 22 58
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  4. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PMID: 20672350) Nikopensius T … Metspalu A (Birth defects research. Part A, Clinical and molecular teratology 2010) 3 44 58
  5. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PMID: 20572854) Jagomägi T … Metspalu A (European journal of oral sciences 2010) 3 44 58

Products for JAG2 Gene

Sources for JAG2 Gene

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