Human Gene CDH6 (uc003jhe.2)
  Description: Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.
RefSeq Summary (NM_004932): This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011].
Transcript (Including UTRs)
   Position: hg19 chr5:31,193,762-31,329,253 Size: 135,492 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr5:31,267,581-31,323,415 Size: 55,835 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:31,193,762-31,329,253)mRNA (may differ from genome)Protein (790 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CADH6_HUMAN
DESCRIPTION: RecName: Full=Cadherin-6; AltName: Full=Kidney cadherin; Short=K-cadherin; Flags: Precursor;
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Highly expressed in brain, cerebellum, and kidney. Lung, pancreas, and gastric mucosa show a weak expression. Also expressed in certain liver and kidney carcinomas.
SIMILARITY: Contains 5 cadherin domains.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CDH6
CDC HuGE Published Literature: CDH6
Positive Disease Associations: Body Mass Index , Calcium , Creatinine , Iron , Myocardial Infarction
Related Studies:
  1. Body Mass Index
    , , . [PubMed 0]
  2. Body Mass Index
    , , . [PubMed 0]
  3. Calcium
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CDH6
Diseases sorted by gene-association score: renal cell carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 5.56 RPKM in Artery - Tibial
Total median expression: 58.12 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 -133.10360-0.370 Picture PostScript Text
3' UTR -1435.765838-0.246 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
  InterPro Domains: Graphical view of domain structure
IPR002126 - Cadherin
IPR015919 - Cadherin-like
IPR020894 - Cadherin_CS
IPR000233 - Cadherin_cytoplasmic-dom

Pfam Domains:
PF00028 - Cadherin domain
PF01049 - Cadherin cytoplasmic region

SCOP Domains:
49313 - Cadherin-like

ModBase Predicted Comparative 3D Structure on P55285
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007219 Notch signaling pathway
GO:0034332 adherens junction organization

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK291290 - Homo sapiens cDNA FLJ75483 complete cds, highly similar to Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.
BC000019 - Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney), mRNA (cDNA clone MGC:1470 IMAGE:3506873), complete cds.
AK024238 - Homo sapiens cDNA FLJ14176 fis, clone NT2RP2003101.
JD503747 - Sequence 484771 from Patent EP1572962.
JD065310 - Sequence 46334 from Patent EP1572962.
JD444464 - Sequence 425488 from Patent EP1572962.
JD211261 - Sequence 192285 from Patent EP1572962.
D31784 - Homo sapiens mRNA for cadherin-6, complete cds.
JD237211 - Sequence 218235 from Patent EP1572962.
JD469541 - Sequence 450565 from Patent EP1572962.
JD058913 - Sequence 39937 from Patent EP1572962.
CU673994 - Synthetic construct Homo sapiens gateway clone IMAGE:100017763 5' read CDH6 mRNA.
KJ901330 - Synthetic construct Homo sapiens clone ccsbBroadEn_10724 CDH6 gene, encodes complete protein.
JD428127 - Sequence 409151 from Patent EP1572962.
JD251283 - Sequence 232307 from Patent EP1572962.
JD456397 - Sequence 437421 from Patent EP1572962.
JD453607 - Sequence 434631 from Patent EP1572962.
JD270920 - Sequence 251944 from Patent EP1572962.
JD181723 - Sequence 162747 from Patent EP1572962.
JD411334 - Sequence 392358 from Patent EP1572962.
JD500986 - Sequence 482010 from Patent EP1572962.
JD298908 - Sequence 279932 from Patent EP1572962.
JD168140 - Sequence 149164 from Patent EP1572962.
JD440985 - Sequence 422009 from Patent EP1572962.
JD206424 - Sequence 187448 from Patent EP1572962.
JD251422 - Sequence 232446 from Patent EP1572962.
JD088995 - Sequence 70019 from Patent EP1572962.
JD154886 - Sequence 135910 from Patent EP1572962.
JD451254 - Sequence 432278 from Patent EP1572962.
AL049227 - Homo sapiens mRNA; cDNA DKFZp564N1116 (from clone DKFZp564N1116).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55285 (Reactome details) participates in the following event(s):

R-HSA-419001 Connection of adjacent cells through calcium-dependent trans-dimerization of cadherin
R-HSA-419002 Interaction of cadherin with Beta/gamma catenin, alpha catenin and p120 catenin
R-HSA-418990 Adherens junctions interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5H5, CADH6_HUMAN, NM_004932, NP_004923, P55285, Q9BWS0
UCSC ID: uc003jhe.2
RefSeq Accession: NM_004932
Protein: P55285 (aka CADH6_HUMAN or CAD6_HUMAN)
CCDS: CCDS3894.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004932.3
exon count: 12CDS single in 3' UTR: no RNA size: 8571
ORF size: 2373CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4772.00frame 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.