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CDH15 cadherin 15 [ Homo sapiens (human) ]

Gene ID: 1013, updated on 23-Nov-2021

Summary

Official Symbol
CDH15provided by HGNC
Official Full Name
cadherin 15provided by HGNC
Primary source
HGNC:HGNC:1754
See related
Ensembl:ENSG00000129910 MIM:114019
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
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Genomic context

See CDH15 in Genome Data Viewer
Location:
16q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89171748..89195492)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89238156..89261900)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase family member 3 Neighboring gene long intergenic non-protein coding RNA 304 Neighboring gene long intergenic non-protein coding RNA 2138 Neighboring gene solute carrier family 22 member 31 Neighboring gene zinc finger protein 778 Neighboring gene Sharpr-MPRA regulatory region 4154

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in caveola IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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

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_004933.3NP_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:157256
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:640781
    Cadherin_C; Cadherin cytoplasmic region
    cl09101
    Location:487580
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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