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Aliases for KIAA1462 Gene

Aliases for KIAA1462 Gene

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

External Ids for KIAA1462 Gene

Previous GeneCards Identifiers for KIAA1462 Gene

  • GC10M030454
  • GC10M030308
  • GC10M030344

Summaries for KIAA1462 Gene

GeneCards Summary for KIAA1462 Gene

KIAA1462 (KIAA1462) is a Protein Coding gene. Diseases associated with KIAA1462 include artery disease and coronary artery disease.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1462 Gene

Genomics for KIAA1462 Gene

Regulatory Elements for KIAA1462 Gene

Enhancers for KIAA1462 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIAA1462 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA1462 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA1462 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA1462 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 KIAA1462 Gene

Genes around KIAA1462 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1462 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1462 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1462 Gene

Proteins for KIAA1462 Gene

  • Protein details for KIAA1462 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 KIAA1462 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 KIAA1462 Gene

Proteomics data for KIAA1462 Gene at MOPED

Post-translational modifications for KIAA1462 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1462 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIAA1462 Gene

Domains & Families for KIAA1462 Gene

Protein Domains for KIAA1462 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1462: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA1462 Gene

Function for KIAA1462 Gene

Animal Model Products

CRISPR 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 KIAA1462 Gene

Localization for KIAA1462 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1462 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1462 Gene COMPARTMENTS Subcellular localization image for KIAA1462 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KIAA1462 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with KIAA1462: view

Pathways & Interactions for KIAA1462 Gene

SuperPathways for KIAA1462 Gene

No Data Available

Interacting Proteins for KIAA1462 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000364526%0d%0a9606.ENSP00000356480%0d%0a9606.ENSP00000372035%0d%0a
Selected Interacting proteins: ENSP00000364526 for KIAA1462 Gene via STRING

Gene Ontology (GO) - Biological Process for KIAA1462 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA1462 Gene

Drugs & Compounds for KIAA1462 Gene

No Compound Related Data Available

Transcripts for KIAA1462 Gene

Unigene Clusters for KIAA1462 Gene

KIAA1462:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1462 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - -
SP2: - - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for KIAA1462 Gene

GeneLoc Exon Structure for
KIAA1462
ECgene alternative splicing isoforms for
KIAA1462

Expression for KIAA1462 Gene

mRNA expression in normal human tissues for KIAA1462 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA1462 Gene

This gene is overexpressed in Colon - Sigmoid (x4.3).

Protein differential expression in normal tissues from HIPED for KIAA1462 Gene

This gene is overexpressed in Testis (21.0), Bone marrow stromal cell (16.6), and Placenta (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for KIAA1462 Gene



SOURCE GeneReport for Unigene cluster for KIAA1462 Gene Hs.533953

genes like me logo Genes that share expression patterns with KIAA1462: view

Protein tissue co-expression partners for KIAA1462 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KIAA1462 Gene

Orthologs for KIAA1462 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1462 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA1462 35
  • 69.64 (n)
  • 60.03 (a)
JCAD 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1462 35
  • 74.36 (n)
  • 65.36 (a)
KIAA1462 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9430020K01Rik 35
  • 68.23 (n)
  • 56.19 (a)
9430020K01Rik 16
9430020K01Rik 36
  • 55 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA1462 35
  • 99.04 (n)
  • 98.82 (a)
KIAA1462 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562037 35
  • 67.51 (n)
  • 55.07 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA1462 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1462 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1462 35
  • 56.96 (n)
  • 46.99 (a)
KIAA1462 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1462 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1462 35
  • 48.67 (n)
  • 36.75 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-203c7.2 36
  • 19 (a)
OneToMany
svilb 36
  • 14 (a)
OneToMany
Species with no ortholog for KIAA1462:
  • 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 KIAA1462 Gene

ENSEMBL:
Gene Tree for KIAA1462 (if available)
TreeFam:
Gene Tree for KIAA1462 (if available)

Paralogs for KIAA1462 Gene

Pseudogenes.org Pseudogenes for KIAA1462 Gene

genes like me logo Genes that share paralogs with KIAA1462: view

No data available for Paralogs for KIAA1462 Gene

Variants for KIAA1462 Gene

Sequence variations from dbSNP and Humsavar for KIAA1462 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs7917573 - 30,028,687(+) CCTCT(C/G)TCATC reference, missense
rs7917566 - 30,028,668(+) GGAAT(C/T)GGCCA reference, missense
rs7901855 - 30,027,962(+) GAGCT(G/T)CGGAG reference, missense
rs2185724 - 30,027,279(+) GTGTC(C/T)CTTCT reference, missense
rs3739998 - 30,027,143(-) GGAAA(C/G/T)TCCGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KIAA1462 Gene

Variant ID Type Subtype PubMed ID
esv2672894 CNV Deletion 23128226

Variation tolerance for KIAA1462 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 KIAA1462 Gene

HapMap Linkage Disequilibrium report
KIAA1462
Human Gene Mutation Database (HGMD)
KIAA1462

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1462 Gene

Disorders for KIAA1462 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIAA1462 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
artery disease
  • arteriopathic disease
coronary artery disease
  • chronic myocardial ischemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA1462

Genetic Association Database (GAD)
KIAA1462
Human Genome Epidemiology (HuGE) Navigator
KIAA1462
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1462
genes like me logo Genes that share disorders with KIAA1462: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1462 Gene

Publications for KIAA1462 Gene

  1. 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) 2 3 4 67
  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
  3. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PMID: 24255178) Couzens A.L. … Gingras A.C. (Sci Signal 2013) 3
  5. 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) 3

Products for KIAA1462 Gene

Sources for KIAA1462 Gene

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