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CDH15 cadherin 15, type 1, M-cadherin (myotubule) [ Homo sapiens (human) ]

Gene ID: 1013, updated on 7-Dec-2014
Official Symbol
CDH15provided by HGNC
Official Full Name
cadherin 15, type 1, M-cadherin (myotubule)provided by HGNC
Primary source
HGNC:HGNC:1754
See related
Ensembl:ENSG00000129910; HPRD:00225; MIM:114019; Vega:OTTHUMG00000138045
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDH3; CDHM; MCAD; MRD3; CDH14
Summary
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]
See CDH15 in Epigenomics, MapViewer
Location:
16q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (89171755..89195492)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89238163..89261900)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 304 Neighboring gene uncharacterized LOC400558 Neighboring gene solute carrier family 22, member 31 Neighboring gene zinc finger protein 778

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal dominant 3
MedGen: C2675488 OMIM: 612580 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-08-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-08-08)

ClinGen Genome Curation Page
  • Adherens junctions interactions, organism-specific biosystem (from REACTOME)
    Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
  • CDO in myogenesis, organism-specific biosystem (from REACTOME)
    CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Myogenesis, organism-specific biosystem (from REACTOME)
    Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adherens junction organization TAS
Traceable Author Statement
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cell-cell junction organization TAS
Traceable Author Statement
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
muscle cell differentiation TAS
Traceable Author Statement
more info
 
positive regulation of muscle cell differentiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
caveola IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
cadherin-15
Names
cadherin-15
cadherin-3
cadherin-14
muscle-cadherin

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012055.1 

    Range
    5001..28738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004933.2NP_004924.1  cadherin-15 preproprotein

    See proteins identical to NP_004924.1

    Status: REVIEWED

    Source sequence(s)
    AW452260, D83542
    Consensus CDS
    CCDS10976.1
    UniProtKB/Swiss-Prot
    P55291
    Related
    ENSP00000289746, OTTHUMP00000175347, ENST00000289746, OTTHUMT00000269920
    Conserved Domains (3) summary
    cd11304
    Location:157256
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:631782
    Cadherin_C; Cadherin cytoplasmic region
    cl15786
    Location:487580
    CA_like; Cadherin repeat-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    89171755..89195492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    90649453..90672880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    74937029..74960595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)