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Aliases for JCAD Gene

Aliases for JCAD Gene

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

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. Diseases associated with JCAD include Artery Disease and Coronary Artery Disease.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JCAD Gene

Genomics for JCAD Gene

Regulatory Elements for JCAD Gene

Enhancers for JCAD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G030181 1.1 FANTOM5 Ensembl ENCODE 28 -67.2 -67232 2.4 ZNF217 CTBP1 JUND FOSL2 FOS DPF2 JCAD LOC105376477 GC10M030164
GH10G030185 1.1 Ensembl ENCODE 25.2 -72.2 -72237 4.0 FOXA2 RAD21 RARA YY1 ZNF366 ETV6 FOS ZNF680 REST ZBTB33 JCAD LOC105376477 GC10M030164
GH10G030214 1.1 Ensembl ENCODE 24.6 -100.2 -100160 1.5 RARA TCF12 ZNF121 SMARCA5 CEBPB KAT8 ZNF592 NFIL3 ATF4 SMARCA4 JCAD GC10P030218 LOC101929279
GH10G030175 0.7 ENCODE 25.8 -62.2 -62183 3.5 PKNOX1 SMAD5 BHLHE40 HLF CEBPB CEBPG ZNF316 EED IKZF1 GLIS1 JCAD GC10M030164 LOC105376477
GH10G030054 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.3 +57.9 57924 5.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 RNU6-598P EEF1A1P39 JCAD LOC101929256
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JCAD on UCSC Golden Path with GeneCards custom track

Genomic Location for JCAD Gene

Chromosome:
10
Start:
30,012,800 bp from pter
End:
30,115,494 bp from pter
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

Protein Domains for JCAD Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for JCAD Gene

Function for JCAD Gene

Animal Model Products

miRNA for JCAD Gene

miRTarBase miRNAs that target JCAD

Inhibitory RNA Products

Clone Products

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
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for JCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IEA --
GO:0005912 adherens junction IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with JCAD: view

Pathways & Interactions for JCAD Gene

No Data Available

Interacting Proteins for JCAD Gene

Selected Interacting proteins: Q9P266-JCAD_HUMAN for JCAD Gene via IID

Gene Ontology (GO) - Biological Process for JCAD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
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

Unigene Clusters for JCAD Gene

KIAA1462:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

NURSA nuclear receptor signaling pathways regulating expression of JCAD Gene:

JCAD

SOURCE GeneReport for Unigene cluster for JCAD Gene:

Hs.533953

Evidence on tissue expression from TISSUES for JCAD Gene

  • Nervous system(4.5)
  • Liver(4.1)
  • Lymph node(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia KIAA1462 34 35
  • 74.36 (n)
cow
(Bos Taurus)
Mammalia KIAA1462 34
  • 69.64 (n)
JCAD 35
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9430020K01Rik 34 16 35
  • 68.23 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562037 34
  • 67.51 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1462 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1462 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1462 34 35
  • 56.96 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1462 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1462 34
  • 48.67 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-203c7.2 35
  • 19 (a)
OneToMany
svilb 35
  • 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)

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 Sequence Context AA Info Type
rs886043177 Uncertain significance 30,026,775(+) TTCCT(-/G)GGGGG reference, frameshift-variant
rs1000018922 -- 30,036,174(+) CACAG(C/T)GGCTC intron-variant
rs1000058756 -- 30,066,046(+) CAATA(A/C)ATAGA intron-variant
rs1000076251 -- 30,034,253(+) ATGAT(A/G)ATAAC intron-variant
rs1000164959 -- 30,065,573(+) CACAG(C/G)TCACT 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)

Relevant External Links for JCAD Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for JCAD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
artery disease
  • arteriopathic disease
coronary artery disease
  • coronary artery anomaly
- elite association - COSMIC cancer census association via MalaCards
Search JCAD in MalaCards View complete list of genes associated with diseases

Relevant External Links for JCAD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JCAD
genes like me logo Genes that share disorders with JCAD: view

No data available for 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 D.G. … Haines J.L. (PLoS ONE 2013) 2 3 64
  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. (Biochem. Biophys. Res. Commun. 2011) 2 3 64
  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 Res. 2000) 3 4 64
  4. Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. (PMID: 27669027) Boueiz A. … DeMeo D.L. (Am. J. Respir. Crit. Care Med. 2017) 3 64
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3 64

Products for JCAD Gene

Sources for JCAD Gene

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