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
  • JCAD 5

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 Alzheimer Disease.

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 Pubs

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 600.7 +0.1 57 1.1 USF2 RAD51 USF1 BHLHE40 TOE1 CBFA2T2 DACH1 PKNOX1 JCAD lnc-JCAD-3 lnc-MAP3K8-24 LOC101929256 lnc-JCAD-2 RF00017-633 SVIL
GH10J030181 Enhancer 1.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 28 -66.9 -66879 3.1 SP1 JUND CEBPB CTBP1 FOS ZNF217 FOSL2 DPF2 ELF1 SMARCE1 JCAD LOC105376477 piR-39099-036 lnc-JCAD-2 MTPAP RF00017-633
GH10J030185 Enhancer 0.7 ENCODE 25.2 -72.2 -72236 4 RXRB REST IRF2 CTCF SP1 JUND CEBPB FOXA2 FOS YY1 JCAD LOC105376477 piR-39099-036 lnc-JCAD-2 MTPAP RF00017-633
GH10J030170 Enhancer 0.7 Ensembl 25.9 -55.5 -55507 1.2 ZNF512 JUND PRDM1 SOX6 CEBPB FOS JUN FOSL1 CUX1 EP300 JCAD piR-39099-036 LOC105376477 lnc-JCAD-2 MTPAP RF00017-633
GH10J030175 Enhancer 0.7 Ensembl ENCODE 25.8 -62.2 -62182 3.5 CEBPB ZNF316 FOS CEBPG BHLHE40 MAFK EMSY JCAD piR-39099-036 LOC105376477 lnc-JCAD-2 MTPAP 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JCAD

Genomic Locations for JCAD Gene

Genomic Locations for JCAD Gene
chr10:30,012,803-30,115,494
(GRCh38/hg38)
Size:
102,692 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

InterPro:
Blocks:
  • Binding-protein-dependent transport systems inner membrane component
ProtoNet:
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

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

Animal Models for JCAD Gene

MGI Knock Outs for JCAD:

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 , Human Phenotype Ontology , 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 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

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 IBA,IMP 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

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for JCAD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JCAD

Evidence on tissue expression from TISSUES for JCAD Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Lymph node(4.1)
  • Heart(2.3)
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 30 31
  • 99.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1462 30 31
  • 74.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA1462 30
  • 69.64 (n)
JCAD 31
  • 59 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 9430020K01Rik 30 31
  • 68.23 (n)
OneToOne
Jcad 17
Rat
(Rattus norvegicus)
Mammalia RGD1562037 30
  • 67.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia KIAA1462 31
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1462 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1462 30 31
  • 56.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1462 31
  • 38 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1462 30
  • 48.67 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-203c7.2 31
  • 19 (a)
OneToMany
svilb 31
  • 14 (a)
OneToMany
Species where no ortholog for JCAD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JCAD Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
718174 Benign: not provided 30,026,293(-) G/A SYNONYMOUS_VARIANT
728960 Benign: not provided 30,026,310(-) C/T MISSENSE_VARIANT
756757 Likely Benign: not provided 30,029,302(-) G/A SYNONYMOUS_VARIANT
780861 Benign: not provided 30,047,735(-) G/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
781195 Benign: not provided 30,047,565(-) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for JCAD Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for JCAD Gene - From: GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search JCAD in MalaCards View complete list of genes associated with diseases
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 DG … Haines JL (PloS one 2013) 2 3
  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
  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
  4. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. (PMID: 30773093) Menon VR … Litovchick L (Cell cycle (Georgetown, Tex.) 2019) 3
  5. 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

Products for JCAD Gene

Sources for JCAD Gene