Human Gene CDH15 (uc002fmt.3) Description and Page Index
  Description: Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.
RefSeq Summary (NM_004933): This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D83542.1, BC008951.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2155751, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:89,238,163-89,261,900 Size: 23,738 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr16:89,238,240-89,261,563 Size: 23,324 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:89,238,163-89,261,900)mRNA (may differ from genome)Protein (814 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Cadherin-15; AltName: Full=Cadherin-14; AltName: Full=Muscle cadherin; Short=M-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. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed in the brain and cerebellum.
DISEASE: Note=A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).
DISEASE: Defects in CDH15 are the cause of mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Contains 5 cadherin domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CDH15
CDC HuGE Published Literature: CDH15
Positive Disease Associations: Heart Failure
Related Studies:
  1. Heart Failure
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CDH15
Diseases sorted by gene-association score: autosomal dominant non-syndromic intellectual disability* (117), hypotrichosis, congenital, with juvenile macular dystrophy (12), 16q24.3 microdeletion syndrome (10), deafness, autosomal recessive 89 (9), telogen effluvium (9), mental retardation, x-linked, syndromic 13 (8), kbg syndrome (5), hair disease (1)
* = Manually curated disease association

-  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: 54.64 RPKM in Brain - Cerebellum
Total median expression: 127.63 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.1077-0.378 Picture PostScript Text
3' UTR -143.20337-0.425 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 P55291
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0034332 adherens junction organization
GO:0051149 positive regulation of muscle cell differentiation

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031594 neuromuscular junction
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  D83542 - Homo sapiens mRNA for cadherin-15, complete cds.
BC008951 - Homo sapiens cadherin 15, type 1, M-cadherin (myotubule), mRNA (cDNA clone MGC:3599 IMAGE:3027886), complete cds.
DQ893277 - Synthetic construct clone IMAGE:100005907; FLH195874.01X; RZPDo839H03152D cadherin 15, M-cadherin (myotubule) (CDH15) gene, encodes complete protein.
DQ896608 - Synthetic construct Homo sapiens clone IMAGE:100011068; FLH195870.01L; RZPDo839H03151D cadherin 15, M-cadherin (myotubule) (CDH15) gene, encodes complete protein.
JD327063 - Sequence 308087 from Patent EP1572962.
AK308596 - Homo sapiens cDNA, FLJ98637.
AK308631 - Homo sapiens cDNA, FLJ98672.
JD257254 - Sequence 238278 from Patent EP1572962.
LF375155 - JP 2014500723-A/182658: Polycomb-Associated Non-Coding RNAs.
MA610732 - JP 2018138019-A/182658: Polycomb-Associated Non-Coding RNAs.
LF375156 - JP 2014500723-A/182659: Polycomb-Associated Non-Coding RNAs.
JD060355 - Sequence 41379 from Patent EP1572962.
LF375157 - JP 2014500723-A/182660: Polycomb-Associated Non-Coding RNAs.
JD216655 - Sequence 197679 from Patent EP1572962.
JD114244 - Sequence 95268 from Patent EP1572962.
JD409092 - Sequence 390116 from Patent EP1572962.
LF375158 - JP 2014500723-A/182661: Polycomb-Associated Non-Coding RNAs.
MA610733 - JP 2018138019-A/182659: Polycomb-Associated Non-Coding RNAs.
MA610734 - JP 2018138019-A/182660: Polycomb-Associated Non-Coding RNAs.
MA610735 - JP 2018138019-A/182661: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)

Reactome (by CSHL, EBI, and GO)

Protein P55291 (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-375140 CDO binds promyogenic cadherins
R-HSA-376121 Bnip2 interacts with CDO complex
R-HSA-376119 Interaction of Bnip-2 with Cdc42
R-HSA-376117 JLP interacts with CDO complex
R-HSA-449200 Interaction of ABL1 with CDO complex
R-HSA-448957 Interaction of p38 MAPK with JLP
R-HSA-418990 Adherens junctions interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-375170 CDO in myogenesis
R-HSA-446728 Cell junction organization
R-HSA-525793 Myogenesis
R-HSA-1500931 Cell-Cell communication
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CAD15_HUMAN, CDH14, CDH3, NM_004933, NP_004924, P55291
UCSC ID: uc002fmt.3
RefSeq Accession: NM_004933
Protein: P55291 (aka CAD15_HUMAN or CADF_HUMAN)
CCDS: CCDS10976.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_004933.2
exon count: 14CDS single in 3' UTR: no RNA size: 2875
ORF size: 2445CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4811.00frame shift in genome: no % Coverage: 99.44
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.