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

Gene ID: 57608, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (30012803..30115494, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (30043840..30146523, complement)
105.20220307 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. 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
  2. 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
  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 Promotes Progression of Nonalcoholic Steatohepatitis to Liver Cancer by Inhibiting LATS2 Kinase Activity. Ye J, et al. Cancer Res, 2017 Oct 1. PMID 28775168
  5. Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. Boueiz A, et al. Am J Respir Crit Care Med, 2017 Mar 15. PMID 27669027, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study.
    Title: JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study.
  2. 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.
  3. 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.
  4. 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.
  5. High JCAD expression is associated with Liver Cancer.
    Title: JCAD Promotes Progression of Nonalcoholic Steatohepatitis to Liver Cancer by Inhibiting LATS2 Kinase Activity.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Submit: New GeneRIF Correction

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)

Genotypes

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_2023_10

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

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