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    JCAD junctional cadherin 5 associated [ Homo sapiens (human) ]

    Gene ID: 57608, updated on 10-Dec-2024

    Summary

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    Official Symbol
    JCADprovided by HGNC
    Official Full Name
    junctional cadherin 5 associatedprovided by HGNC
    Primary source
    HGNC:HGNC:29283
    See related
    Ensembl:ENSG00000165757 MIM:614398; AllianceGenome:HGNC:29283
    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
    KIAA1462
    Summary
    This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in fat (RPKM 28.1), lung (RPKM 20.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JCAD in Genome Data Viewer
    Location:
    10p11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (30012803..30115494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (30043840..30146523, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (30301732..30404423, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902403 Neighboring gene uncharacterized LOC107984218 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:30287145-30287333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3197 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:30317296-30318025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:30318026-30318754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:30323522-30324118 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:30332840-30333112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3199 Neighboring gene NANOG hESC enhancer GRCh37_chr10:30345636-30346173 Neighboring gene uncharacterized LOC101929256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2263 Neighboring gene Sharpr-MPRA regulatory region 14462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:30451859-30452358 Neighboring gene uncharacterized LOC105376477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2265 Neighboring gene uncharacterized LOC101929279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3202

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. JCAD, a Gene at the 10p11 Coronary Artery Disease Locus, Regulates Hippo Signaling in Endothelial Cells. Jones PD, et al. Arterioscler Thromb Vasc Biol, 2018 Aug. PMID 29794114, Free PMC Article
    2. The novel coronary artery disease risk gene JCAD/KIAA1462 promotes endothelial dysfunction and atherosclerosis. Xu S, et al. Eur Heart J, 2019 Aug 1. PMID 31539914, Free PMC Article
    3. Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Erdmann J, et al. Eur Heart J, 2011 Jan. PMID 21088011
    4. JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis. Xie L, et al. Clin Mol Hepatol, 2024 Apr. PMID 38190829, Free PMC Article
    5. KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. Murdock DG, et al. PLoS One, 2013. PMID 24349219, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis.
      Title: JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis.
    2. JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study.
      Title: JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study.
    3. A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction.
      Title: A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction.
    4. The novel coronary artery disease risk gene JCAD/KIAA1462 promotes endothelial dysfunction and atherosclerosis.
      Title: The novel coronary artery disease risk gene JCAD/KIAA1462 promotes endothelial dysfunction and atherosclerosis.
    5. JCAD negatively regulates Hippo signaling in endothelial cells and contributes to atherosclerosis by regulating YAP activity and endothelial dysfunction.
      Title: JCAD, a Gene at the 10p11 Coronary Artery Disease Locus, Regulates Hippo Signaling in Endothelial Cells.
    6. High JCAD expression is associated with Liver Cancer.
      Title: JCAD Promotes Progression of Nonalcoholic Steatohepatitis to Liver Cancer by Inhibiting LATS2 Kinase Activity.
    7. JCAD has a redundant functional role in physiological angiogenesis but serves a pivotal role in pathological angiogenic process after birth.
      Title: Targeted Disruption of JCAD (Junctional Protein Associated With Coronary Artery Disease)/KIAA1462, a Coronary Artery Disease-Associated Gene Product, Inhibits Angiogenic Processes In Vitro and In Vivo.
    8. Results in this study identify the KIAA1462 locus as a candidate locus for late onset Alzheimer disease in APOE4 carriers.
      Title: KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers.
    9. KIAA1462 gene encodes a yet uncharacterized protein, on chromosome 10p11.23 with genome-wide significant association for CAD/MI
      Title: Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vascular endothelial growth factor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    junctional cadherin 5-associated protein
    Names
    junctional protein associated with coronary artery disease

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_053080.1 RefSeqGene

      Range
      60909..107692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350001.2 → NP_001336930.1  junctional cadherin 5-associated protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, contains an alternate exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL158036
      Conserved Domains (1) summary
      pfam15351
      Location:1 → 1210
      JCAD; Junctional protein associated with coronary artery disease

    2. NM_001350021.2 → NP_001336950.1  junctional cadherin 5-associated protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL158036, AL360172, BX648192
      Conserved Domains (1) summary
      pfam15351
      Location:1 → 1210
      JCAD; Junctional protein associated with coronary artery disease

    3. NM_001350022.2 → NP_001336951.1  junctional cadherin 5-associated protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AL158036, AL360172
      Consensus CDS
      CCDS41500.1
      UniProtKB/Swiss-Prot
      Q5HYA7, Q5T992, Q86WZ9, Q9BYJ2, Q9P266
      Conserved Domains (1) summary
      pfam15351
      Location:1 → 1348
      JCAD; Junctional protein associated with coronary artery disease

    4. NM_020848.4 → NP_065899.1  junctional cadherin 5-associated protein isoform 1

      See identical proteins and their annotated locations for NP_065899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL158036, CB988996
      Consensus CDS
      CCDS41500.1
      UniProtKB/Swiss-Prot
      Q5HYA7, Q5T992, Q86WZ9, Q9BYJ2, Q9P266
      Related
      ENSP00000364526.1, ENST00000375377.2
      Conserved Domains (1) summary
      pfam15351
      Location:1 → 1348
      JCAD; Junctional protein associated with coronary artery disease

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      30012803..30115494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      30043840..30146523 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P266.3 GenPept UniProtKB/Swiss-Prot:Q9P266

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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