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

    Gene ID: 57608, updated on 30-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

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

    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.

    Genomic

    1. NG_053080.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001350001.2NP_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:11210
      JCAD; Junctional protein associated with coronary artery disease
    2. NM_001350021.2NP_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:11210
      JCAD; Junctional protein associated with coronary artery disease
    3. NM_001350022.2NP_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:11348
      JCAD; Junctional protein associated with coronary artery disease
    4. NM_020848.4NP_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:11348
      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)