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    CDH15 cadherin 15 [ Homo sapiens (human) ]

    Gene ID: 1013, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CDH15provided by HGNC
    Official Full Name
    cadherin 15provided by HGNC
    Primary source
    HGNC:HGNC:1754
    See related
    Ensembl:ENSG00000129910 MIM:114019; AllianceGenome:HGNC:1754
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CDH15 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89171748..89195492)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (95251870..95275698)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89238156..89261900)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89226077-89226576 Neighboring gene long intergenic non-protein coding RNA 304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89233179-89234027 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89234028-89234875 Neighboring gene long intergenic non-protein coding RNA 2138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89241373-89241872 Neighboring gene Sharpr-MPRA regulatory region 11767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89260181-89260846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89265225-89265848 Neighboring gene solute carrier family 22 member 31 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89267097-89267719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7895 Neighboring gene Sharpr-MPRA regulatory region 4154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11397 Neighboring gene ZNF778 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Immunocytochemistry of M-cadherin in mature and regenerating rat muscle. Bornemann A, et al. Anat Rec, 1994 Jun. PMID 8059975
    2. A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention. Xiang Q, et al. Pharmacogenomics, 2020 Jan. PMID 31854260
    3. Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning. Shibata T, et al. J Biol Chem, 1997 Feb 21. PMID 9030594
    4. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Bhalla K, et al. Am J Hum Genet, 2008 Dec. PMID 19012874, Free PMC Article
    5. Expression of M-cadherin, a member of the cadherin multigene family, correlates with differentiation of skeletal muscle cells. Donalies M, et al. Proc Natl Acad Sci U S A, 1991 Sep 15. PMID 1840697, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention.
      Title: A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    3. Alterations in CDH15 in patients with mild to severe intellectual disability are reported.
      Title: Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
    4. The cell adhesion molecule M-cadherin is not essential for muscle development and regeneration.
      Title: The cell adhesion molecule M-cadherin is not essential for muscle development and regeneration.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in caveola IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cadherin-15
    Names
    cadherin 15, type 1, M-cadherin (myotubule)
    cadherin-14
    cadherin-3
    muscle-cadherin

    NCBI Reference Sequences (RefSeq)

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    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 RefSeqGene

      Range
      4994..28738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004933.3 → NP_004924.1  cadherin-15 preproprotein

      See identical proteins and their annotated locations for NP_004924.1

      Status: REVIEWED

      Source sequence(s)
      AC009113, AW452260, D83542
      Consensus CDS
      CCDS10976.1
      UniProtKB/Swiss-Prot
      P55291
      Related
      ENSP00000289746.2, ENST00000289746.3
      Conserved Domains (3) summary
      cd11304
      Location:157 → 256
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:640 → 781
      Cadherin_C; Cadherin cytoplasmic region
      cl09101
      Location:487 → 580
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      89171748..89195492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      95251870..95275698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55291.1 GenPept UniProtKB/Swiss-Prot:P55291

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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