Human Gene JCAD (uc001iux.3)
  Description: Homo sapiens JCAD (JCAD), mRNA.
RefSeq Summary (NM_020848): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:30,301,729-30,348,488 Size: 46,760 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr10:30,306,812-30,336,741 Size: 29,930 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:30,301,729-30,348,488)mRNA (may differ from genome)Protein (1359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMalacardsMGIneXtProt
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: JCAD_HUMAN
DESCRIPTION: RecName: Full=Junctional protein associated with coronary artery disease; Short=JCAD;
SUBCELLULAR LOCATION: Cell junction, adherens junction (By similarity). Note=Colocalizes with VE-Cadherin, in endothelial cells but not in epithelial cells (By similarity).
SEQUENCE CAUTION: Sequence=BAA95986.2; Type=Erroneous initiation; Sequence=CAI46027.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: JCAD
Diseases sorted by gene-association score: artery disease (25), coronary artery disease (9)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.65 RPKM in Colon - Sigmoid
Total median expression: 337.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.31137-0.513 Picture PostScript Text
3' UTR -1437.955083-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15351 - Junctional protein associated with coronary artery disease

ModBase Predicted Comparative 3D Structure on Q9P266
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007155 cell adhesion
GO:0043410 positive regulation of MAPK cascade
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis
GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway
GO:1903589 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:1903672 positive regulation of sprouting angiogenesis

Cellular Component:
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0030054 cell junction
GO:0032587 ruffle membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK074200 - Homo sapiens cDNA FLJ23620 fis, clone ADSE00903.
AL050154 - Homo sapiens mRNA; cDNA DKFZp586L0120 (from clone DKFZp586L0120).
BC071601 - Homo sapiens cDNA clone IMAGE:30346375.
AK055602 - Homo sapiens cDNA FLJ31040 fis, clone HSYRA2000224.
JD153582 - Sequence 134606 from Patent EP1572962.
JD326008 - Sequence 307032 from Patent EP1572962.
JD367290 - Sequence 348314 from Patent EP1572962.
JD550261 - Sequence 531285 from Patent EP1572962.
JD550262 - Sequence 531286 from Patent EP1572962.
JD562083 - Sequence 543107 from Patent EP1572962.
AB040895 - Homo sapiens KIAA1462 mRNA for KIAA1462 protein.
BC047548 - Homo sapiens KIAA1462, mRNA (cDNA clone IMAGE:5300031), partial cds.
JD550618 - Sequence 531642 from Patent EP1572962.
BX648263 - Homo sapiens mRNA; cDNA DKFZp686A04125 (from clone DKFZp686A04125).
JD524257 - Sequence 505281 from Patent EP1572962.
JD562316 - Sequence 543340 from Patent EP1572962.
JD330526 - Sequence 311550 from Patent EP1572962.
JD440133 - Sequence 421157 from Patent EP1572962.
JD089946 - Sequence 70970 from Patent EP1572962.
JD509439 - Sequence 490463 from Patent EP1572962.
JD350279 - Sequence 331303 from Patent EP1572962.
JD094245 - Sequence 75269 from Patent EP1572962.
JD531356 - Sequence 512380 from Patent EP1572962.
JD361495 - Sequence 342519 from Patent EP1572962.
JD410184 - Sequence 391208 from Patent EP1572962.
JD557011 - Sequence 538035 from Patent EP1572962.
JD431780 - Sequence 412804 from Patent EP1572962.
JD130027 - Sequence 111051 from Patent EP1572962.
JD450675 - Sequence 431699 from Patent EP1572962.
JD088347 - Sequence 69371 from Patent EP1572962.
JD538894 - Sequence 519918 from Patent EP1572962.
JD419026 - Sequence 400050 from Patent EP1572962.
JD286382 - Sequence 267406 from Patent EP1572962.
JD559744 - Sequence 540768 from Patent EP1572962.
BC153865 - Homo sapiens cDNA clone IMAGE:40124763.
BX648773 - Homo sapiens mRNA; cDNA DKFZp686E22130 (from clone DKFZp686E22130).
BX648192 - Homo sapiens mRNA; cDNA DKFZp686N1627 (from clone DKFZp686N1627).
A09815 - H.sapiens mRNA for type 1 interferion receptor component.
AL583916 - Homo sapiens mRNA; cDNA DKFZp667P0411 (from clone DKFZp667P0411).
JD480813 - Sequence 461837 from Patent EP1572962.
JD543933 - Sequence 524957 from Patent EP1572962.
JD314130 - Sequence 295154 from Patent EP1572962.
JD530977 - Sequence 512001 from Patent EP1572962.
JD073894 - Sequence 54918 from Patent EP1572962.
JD333844 - Sequence 314868 from Patent EP1572962.
JD323817 - Sequence 304841 from Patent EP1572962.
JD253190 - Sequence 234214 from Patent EP1572962.
JD346872 - Sequence 327896 from Patent EP1572962.
JD186492 - Sequence 167516 from Patent EP1572962.
AB384604 - Synthetic construct DNA, clone: pF1KA1462, Homo sapiens KIAA1462 gene for KIAA1462 protein, complete cds, without stop codon, in Flexi system.
AK308850 - Homo sapiens cDNA, FLJ98891.
JD305120 - Sequence 286144 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: JCAD_HUMAN, KIAA1462, NM_020848, NP_065899, Q5HYA7, Q5T992, Q86WZ9, Q9BYJ2, Q9P266
UCSC ID: uc001iux.3
RefSeq Accession: NM_020848
Protein: Q9P266 (aka JCAD_HUMAN)
CCDS: CCDS41500.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020848.2
exon count: 4CDS single in 3' UTR: no RNA size: 9300
ORF size: 4080CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8288.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.