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    JAG2 jagged canonical Notch ligand 2 [ Homo sapiens (human) ]

    Gene ID: 3714, updated on 2-Nov-2024

    Summary

    Official Symbol
    JAG2provided by HGNC
    Official Full Name
    jagged canonical Notch ligand 2provided by HGNC
    Primary source
    HGNC:HGNC:6189
    See related
    Ensembl:ENSG00000184916 MIM:602570; AllianceGenome:HGNC:6189
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HJ2; SER2; LGMDR27
    Summary
    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]
    Expression
    Broad expression in skin (RPKM 13.9), fat (RPKM 7.0) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See JAG2 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105140995..105168776, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99382854..99410701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105607332..105635113, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105521947-105522722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105532273-105532790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9138 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:105536095-105537294 Neighboring gene G protein-coupled receptor 132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105544057-105544557 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:105544918-105545868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6217 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105560015-105560637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9140 Neighboring gene long intergenic non-protein coding RNA 2298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105585919-105586418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105621328-105621926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105629549-105630296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105633835-105634334 Neighboring gene microRNA 6765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105636983-105637819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105658307-105659088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105662217-105662998 Neighboring gene nudix hydrolase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105662999-105663780 Neighboring gene BRF1 general transcription factor IIIB subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105714496-105715286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105716078-105716867 Neighboring gene BTB domain containing 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Muscular dystrophy, limb-girdle, autosomal recessive 27
    MedGen: C5562002 OMIM: 619566 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding  
    enables Notch binding PubMed 
    enables calcium ion binding  
    enables growth factor activity PubMed 
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway PubMed 
    involved_in T cell differentiation PubMed 
    involved_in auditory receptor cell fate commitment PubMed 
    involved_in cell differentiation PubMed 
    involved_in epithelial cell apoptotic process involved in palatal shelf morphogenesis  
    involved_in gamma-delta T cell differentiation  
    involved_in in utero embryonic development  
    involved_in morphogenesis of embryonic epithelium  
    involved_in odontogenesis of dentin-containing tooth  
    involved_in positive regulation of Notch signaling pathway  
    involved_in regulation of cell adhesion  
    involved_in regulation of cell population proliferation PubMed 
    involved_in respiratory system process  
    involved_in skeletal system development  
    involved_in spermatogenesis PubMed 
    involved_in thymic T cell selection PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    General protein information

    Preferred Names
    protein jagged-2
    Names
    jagged 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002226.5NP_002217.3  protein jagged-2 isoform a precursor

      See identical proteins and their annotated locations for NP_002217.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA775404, AF003521, AF029778, AI276672, AJ712299, AL512356, BX105691, U69180
      Consensus CDS
      CCDS9998.1
      UniProtKB/Swiss-Prot
      Q9UE17, Q9UE99, Q9UNK8, Q9Y219, Q9Y6P9, Q9Y6Q0
      Related
      ENSP00000328169.3, ENST00000331782.8
      Conserved Domains (5) summary
      smart00215
      Location:872943
      VWC_out; von Willebrand factor (vWF) type C domain
      cd00054
      Location:307345
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:351381
      EGF; EGF-like domain
      pfam01414
      Location:178240
      DSL; Delta serrate ligand
      pfam07657
      Location:28102
      MNNL; N terminus of Notch ligand
    2. NM_145159.3NP_660142.1  protein jagged-2 isoform b precursor

      See identical proteins and their annotated locations for NP_660142.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform b) than isoform a encoded by variant 1. Isoform b is also known as hJAG2.del-E6.
      Source sequence(s)
      AA775404, AF003521, AF029779, AI276672, AJ712299, AL512356, BX105691, U69180
      Consensus CDS
      CCDS9999.1
      UniProtKB/Swiss-Prot
      Q9Y219
      Related
      ENSP00000328566.2, ENST00000347004.2
      Conserved Domains (5) summary
      smart00215
      Location:834905
      VWC_out; von Willebrand factor (vWF) type C domain
      cd00054
      Location:307345
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00008
      Location:351381
      EGF; EGF-like domain
      pfam01414
      Location:178240
      DSL; Delta serrate ligand
      pfam07657
      Location:28102
      MNNL; N terminus of Notch ligand

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105140995..105168776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431352.1XP_047287308.1  protein jagged-2 isoform X1

    2. XM_047431353.1XP_047287309.1  protein jagged-2 isoform X2

    3. XM_047431354.1XP_047287310.1  protein jagged-2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99382854..99410701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376002.1XP_054231977.1  protein jagged-2 isoform X1

    2. XM_054376003.1XP_054231978.1  protein jagged-2 isoform X2

    3. XM_054376004.1XP_054231979.1  protein jagged-2 isoform X3

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