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] See more...

Aliases for JCAD Gene

Aliases for JCAD Gene

  • Junctional Cadherin 5 Associated 2 3 5
  • Junctional Protein Associated With Coronary Artery Disease 2 3 4
  • KIAA1462 2 3 4

External Ids for JCAD Gene

Previous HGNC Symbols for JCAD Gene

  • KIAA1462

Summaries for JCAD Gene

Entrez Gene Summary for JCAD Gene

  • 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]

GeneCards Summary for JCAD Gene

JCAD (Junctional Cadherin 5 Associated) is a Protein Coding gene.

Additional gene information for JCAD Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JCAD Gene

Genomics for JCAD Gene

GeneHancer (GH) Regulatory Elements for JCAD Gene

Promoters and enhancers for JCAD 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
GH10J030115 Promoter 1 Ensembl CraniofacialAtlas 750.6 +0.1 57 1.1 USF2 DACH1 CBFA2T2 PKNOX1 RAD51 USF1 JCAD lnc-JCAD-3 lnc-MAP3K8-24 lnc-JCAD-2 RF00017-633
GH10J030181 Enhancer 1.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 28 -66.9 -66879 3.1 ZNF217 FOSL2 POLR2A CTBP1 SP1 FOS DPF2 ELF1 JUND SMARCE1 JCAD LOC105376477 piR-39099-036 lnc-JCAD-2 RF00017-633
GH10J030185 Enhancer 0.8 ENCODE 25.2 -72.2 -72236 4 RBPJ RAD21 SP1 CTCF ZNF680 ZNF644 POLR2A RXRA REST RXRB JCAD ENSG00000259994 LOC105376477 piR-39099-036 lnc-JCAD-2 RF00017-633
GH10J030170 Enhancer 0.7 Ensembl 25.9 -55.5 -55507 1.2 SMARCE1 TCF7L2 SMARCA4 PRDM1 TRIM24 POLR2A ZNF512 CEBPB JUN JUND JCAD piR-39099-036 LOC105376477 lnc-JCAD-2 RF00017-633
GH10J030175 Enhancer 0.7 Ensembl ENCODE 25.8 -62.2 -62182 3.5 MAFK CEBPB ZNF316 FOS CEBPG EMSY JCAD piR-39099-036 LOC105376477 lnc-JCAD-2 RF00017-633
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JCAD on UCSC Golden Path with GeneCards custom track

Genomic Locations for JCAD Gene

Genomic Locations for JCAD Gene
chr10:30,012,800-30,115,494
(GRCh38/hg38)
Size:
102,695 bases
Orientation:
Minus strand
chr10:30,301,729-30,404,423
(GRCh37/hg19)
Size:
102,695 bases
Orientation:
Minus strand

Genomic View for JCAD Gene

Genes around JCAD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for JCAD Gene

Proteins for JCAD Gene

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

    Protein Symbol:
    Q9P266-JCAD_HUMAN
    Recommended name:
    Junctional protein associated with coronary artery disease
    Protein Accession:
    Q9P266
    Secondary Accessions:
    • Q5HYA7
    • Q5T992
    • Q86WZ9
    • Q9BYJ2

    Protein attributes for JCAD Gene

    Size:
    1359 amino acids
    Molecular mass:
    148351 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA95986.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI46027.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for JCAD Gene

Post-translational modifications for JCAD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JCAD Gene

No data available for DME Specific Peptides for JCAD Gene

Domains & Families for JCAD Gene

Gene Families for JCAD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for JCAD Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for JCAD Gene

Function for JCAD Gene

Phenotypes From GWAS Catalog for JCAD Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JCAD

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JCAD Gene

Localization for JCAD Gene

Subcellular locations from UniProtKB/Swiss-Prot for JCAD Gene

Cell junction, adherens junction. Note=Colocalizes with VE-Cadherin, in endothelial cells but not in epithelial cells. {ECO:0000250}.

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 JCAD gene
Compartment Confidence
plasma membrane 4
nucleus 2
cytosol 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for JCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IBA 21873635
GO:0005912 adherens junction IDA 28705794
GO:0030054 cell junction IEA --
GO:0032587 ruffle membrane IBA,IDA 28705794
GO:0048471 perinuclear region of cytoplasm IDA 28705794
genes like me logo Genes that share ontologies with JCAD: view

Pathways & Interactions for JCAD Gene

PathCards logo

SuperPathways for JCAD Gene

No Data Available

Interacting Proteins for JCAD Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000364526 Q9P266-JCAD_HUMAN for JCAD Gene via STRING IID

Gene Ontology (GO) - Biological Process for JCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0043410 positive regulation of MAPK cascade IMP 28705794
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis IMP 28705794
GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway IMP 28705794
GO:1903589 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis IMP,IBA 28705794
genes like me logo Genes that share ontologies with JCAD: view

No data available for Pathways by source and SIGNOR curated interactions for JCAD Gene

Drugs & Compounds for JCAD Gene

No Compound Related Data Available

Transcripts for JCAD Gene

mRNA/cDNA for JCAD Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JCAD

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

No ASD Table

Relevant External Links for JCAD Gene

GeneLoc Exon Structure for
JCAD
ECgene alternative splicing isoforms for
JCAD

Expression for JCAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of JCAD Gene:

JCAD

Evidence on tissue expression from TISSUES for JCAD Gene

  • Nervous system(4.5)
  • Liver(4.1)
  • Lymph node(4.1)
genes like me logo Genes that share expression patterns with JCAD: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for JCAD Gene

Orthologs for JCAD Gene

This gene was present in the common ancestor of chordates.

Orthologs for JCAD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1462 33 32
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1462 33 32
  • 74.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1462 32
  • 69.64 (n)
JCAD 33
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9430020K01Rik 33 32
  • 68.23 (n)
OneToOne
Jcad 17
rat
(Rattus norvegicus)
Mammalia RGD1562037 32
  • 67.51 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1462 33
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1462 33
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1462 33 32
  • 56.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1462 33
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1462 32
  • 48.67 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-203c7.2 33
  • 19 (a)
OneToMany
svilb 33
  • 14 (a)
OneToMany
Species where no ortholog for JCAD 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for JCAD Gene

ENSEMBL:
Gene Tree for JCAD (if available)
TreeFam:
Gene Tree for JCAD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for JCAD: view image

Paralogs for JCAD Gene

Pseudogenes.org Pseudogenes for JCAD Gene

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

No data available for Paralogs for JCAD Gene

Variants for JCAD Gene

Sequence variations from dbSNP and Humsavar for JCAD Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs375594607 uncertain-significance, not provided 30,027,195(-) C/A/G/T coding_sequence_variant, missense_variant
rs886043177 uncertain-significance, not provided 30,026,775(-) GGGGGG/GGGGG/GGGGGGG coding_sequence_variant, frameshift
rs1000018922 -- 30,036,174(-) T/C intron_variant
rs1000058756 -- 30,066,046(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000076251 -- 30,034,253(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2672894 CNV deletion 23128226
esv2761589 CNV loss 21179565
esv3622783 CNV loss 21293372
nsv1129323 OTHER inversion 24896259

Variation tolerance for JCAD Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.34; 81.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JCAD Gene

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

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

Disorders for JCAD Gene

Additional Disease Information for JCAD

No disorders were found for JCAD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JCAD Gene

Publications for JCAD Gene

  1. KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. (PMID: 24349219) Murdock DG … Haines JL (PloS one 2013) 2 3 56
  2. A coronary artery disease-associated gene product, JCAD/KIAA1462, is a novel component of endothelial cell-cell junctions. (PMID: 21884682) Akashi M … Furuse M (Biochemical and biophysical research communications 2011) 2 3 56
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 56
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  5. JCAD, a Gene at the 10p11 Coronary Artery Disease Locus, Regulates Hippo Signaling in Endothelial Cells. (PMID: 29794114) Jones PD … Webb TR (Arteriosclerosis, thrombosis, and vascular biology 2018) 3 56

Products for JCAD Gene

Sources for JCAD Gene