CDH15 Gene (Protein Coding)

Cadherin 15

GC16P089171
GIFtS:
43
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 pr... See more...

Aliases for CDH15 Gene

Aliases for CDH15 Gene

  • Cadherin 15 2 3 5
  • Cadherin 15, Type 1, M-Cadherin (Myotubule) 2 3
  • Cadherin-15 3 4
  • Cadherin-14 3 4
  • CDH14 3 4
  • CDH3 3 4
  • Cadherin 15, M-Cadherin (Myotubule) 2
  • Muscle-Cadherin 3
  • Muscle Cadherin 4
  • Cadherin-3 3
  • M-Cadherin 4
  • CDH15 5
  • CDHM 3
  • MCAD 3
  • MRD3 3

External Ids for CDH15 Gene

Previous HGNC Symbols for CDH15 Gene

  • CDH3
  • CDH14

Previous GeneCards Identifiers for CDH15 Gene

  • GC16P080558
  • GC16P090226
  • GC16P088941
  • GC16P088982
  • GC16P087765
  • GC16P089238
  • GC16P074937

Summaries for CDH15 Gene

Entrez Gene Summary for CDH15 Gene

  • 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]

GeneCards Summary for CDH15 Gene

CDH15 (Cadherin 15) is a Protein Coding gene. Diseases associated with CDH15 include Autosomal Dominant Non-Syndromic Intellectual Disability and Hypotrichosis, Congenital, With Juvenile Macular Dystrophy. Among its related pathways are Mesenchymal Stem Cells and Lineage-specific Markers and Cell adhesion_Cadherin-mediated cell adhesion. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH4.

UniProtKB/Swiss-Prot Summary for CDH15 Gene

  • 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.

Gene Wiki entry for CDH15 Gene

Additional gene information for CDH15 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH15 Gene

Genomics for CDH15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CDH15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH15

Top Transcription factor binding sites by QIAGEN in the CDH15 gene promoter:
  • AML1a

Genomic Locations for CDH15 Gene

Genomic Locations for CDH15 Gene
chr16:89,171,748-89,195,492
(GRCh38/hg38)
Size:
23,745 bases
Orientation:
Plus strand
chr16:89,238,163-89,261,900
(GRCh37/hg19)
Size:
23,738 bases
Orientation:
Plus strand

Genomic View for CDH15 Gene

Genes around CDH15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH15 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDH15 Gene

Proteins for CDH15 Gene

Products:

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  • Protein details for CDH15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55291-CAD15_HUMAN
    Recommended name:
    Cadherin-15
    Protein Accession:
    P55291

    Protein attributes for CDH15 Gene

    Size:
    814 amino acids
    Molecular mass:
    88916 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDH15 Gene

Protein Expression for CDH15 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CDH15 Gene

  • Glycosylation at Asn227, Asn531, Asn538, and Asn576
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH15 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for CDH15

No data available for DME Specific Peptides for CDH15 Gene

Domains & Families for CDH15 Gene

Gene Families for CDH15 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CDH15 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin
ProtoNet:

Suggested Antigen Peptide Sequences for CDH15 Gene

GenScript: Design optimal peptide antigens:
  • Muscle cadherin (CAD15_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55291

UniProtKB/Swiss-Prot:

CAD15_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with CDH15: view

Function for CDH15 Gene

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  2. CRISPR
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Molecular function for CDH15 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
cadherin 15,M-cadherin,transmembrane glycoprotein component of adherens junction,expressed in the myotubule,deleted in breast carcinoma (see TSG16H)

Phenotypes From GWAS Catalog for CDH15 Gene

Gene Ontology (GO) - Molecular Function for CDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0008092 cytoskeletal protein binding IBA --
GO:0045296 cadherin binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CDH15: view
genes like me logo Genes that share phenotypes with CDH15: view

Human Phenotype Ontology for CDH15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH15 Gene

MGI Knock Outs for CDH15:

Animal Model Products

CRISPR Products

miRNA for CDH15 Gene

miRTarBase miRNAs that target CDH15

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH15

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDH15 Gene

Localization for CDH15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH15 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH15 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IEA --
GO:0005912 adherens junction IBA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with CDH15: view

Pathways & Interactions for CDH15 Gene

genes like me logo Genes that share pathways with CDH15: view

Pathways by source for CDH15 Gene

1 Sino Biological pathway for CDH15 Gene
1 KEGG pathway for CDH15 Gene
1 GeneGo (Thomson Reuters) pathway for CDH15 Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
1 R&D Systems pathway for CDH15 Gene
7 Qiagen pathways for CDH15 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • Presenilin-Mediated Signaling
  • Rho Family GTPases

SIGNOR curated interactions for CDH15 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA --
GO:0007043 cell-cell junction assembly IBA --
GO:0007155 cell adhesion TAS 9545347
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with CDH15: view

Drugs & Compounds for CDH15 Gene

Products:

  1. Drug

(2) Drugs for CDH15 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cadherin Peptide, avian Pharma Role in cell adhesion 0
Calcium Nutra 6556

(1) ApexBio Compounds for CDH15 Gene

Compound Action Cas Number
Cadherin Peptide, avian Role in cell adhesion 127650-08-2
genes like me logo Genes that share compounds with CDH15: view

Drug Products

Transcripts for CDH15 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CDH15 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH15

Alternative Splicing Database (ASD) splice patterns (SP) for CDH15 Gene

No ASD Table

Relevant External Links for CDH15 Gene

GeneLoc Exon Structure for
CDH15

Expression for CDH15 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH15 Gene

mRNA expression in normal human tissues for CDH15 Gene
mRNA expression by GTEx for CDH15 GenemRNA expression by BioGPS for CDH15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH15 Gene

This gene is overexpressed in Brain - Cerebellum (x17.8), Brain - Cerebellar Hemisphere (x16.5), and Muscle - Skeletal (x13.8).

Protein differential expression in normal tissues from HIPED for CDH15 Gene

This gene is overexpressed in Pancreatic juice (48.6) and Frontal cortex (19.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH15 Gene



Protein tissue co-expression partners for CDH15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH15

SOURCE GeneReport for Unigene cluster for CDH15 Gene:

Hs.148090

mRNA Expression by UniProt/SwissProt for CDH15 Gene:

P55291-CAD15_HUMAN
Tissue specificity: Expressed in the brain and cerebellum.

Evidence on tissue expression from TISSUES for CDH15 Gene

  • Muscle(4.6)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH15 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CDH15: view

Orthologs for CDH15 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH15 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CDH15 30 31
  • 98.41 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CDH15 30 31
  • 85.8 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CDH15 30 31
  • 83.4 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cdh15 30 17 31
  • 82.69 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cdh15 30
  • 82.29 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CDH15 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CDH15 31
  • 71 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CDH15 31
  • 58 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cdh15 30
  • 60.09 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10256 30
Zebrafish
(Danio rerio)
 Actinopterygii cdh15 30 31
  • 53.71 (n)
 OneToOne
wufb48f12 30
Species where no ortholog for CDH15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDH15 Gene

ENSEMBL:
Gene Tree for CDH15 (if available)
TreeFam:
Gene Tree for CDH15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH15: view image

Paralogs for CDH15 Gene

Paralogs for CDH15 Gene

(19) SIMAP similar genes for CDH15 Gene using alignment to 1 proteins:

  • CAD15_HUMAN
genes like me logo Genes that share paralogs with CDH15: view

Variants for CDH15 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH15 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
716709 Likely Benign: not provided 89,191,482(+) G/A INTRON_VARIANT
717425 Benign: not provided 89,190,359(+) T/C SYNONYMOUS_VARIANT
717751 Likely Benign: not provided 89,188,141(+) G/T SYNONYMOUS_VARIANT
729340 Benign: not provided 89,180,253(+) C/T SYNONYMOUS_VARIANT
729499 Benign: not provided 89,187,564(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CDH15 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDH15 Gene

Variant ID Type Subtype PubMed ID
dgv3066n100 CNV gain 25217958
dgv383e201 CNV deletion 23290073
dgv5320n54 CNV loss 21841781
dgv5321n54 CNV loss 21841781
esv25612 CNV gain 19812545
esv2715126 CNV deletion 23290073
esv2763149 CNV gain 21179565
nsv1063024 CNV gain 25217958
nsv1070785 CNV deletion 25765185
nsv1078407 CNV duplication 25765185
nsv1129185 CNV insertion 24896259
nsv1141297 CNV duplication 24896259
nsv1143837 CNV deletion 24896259
nsv457620 CNV gain 19166990
nsv457621 CNV loss 19166990
nsv471115 CNV loss 18288195
nsv482951 CNV loss 15286789
nsv509638 CNV insertion 20534489
nsv519104 CNV loss 19592680
nsv521217 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573720 CNV gain 21841781
nsv573723 CNV gain 21841781
nsv573724 CNV loss 21841781
nsv573727 CNV loss 21841781
nsv573728 CNV gain+loss 21841781
nsv573729 CNV loss 21841781
nsv573730 CNV gain+loss 21841781
nsv573733 CNV loss 21841781
nsv952072 CNV deletion 24416366

Variation tolerance for CDH15 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH15 Gene

Human Gene Mutation Database (HGMD)
CDH15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH15

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH15 Gene

Disorders for CDH15 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CDH15 Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDH15 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAD15_HUMAN
  • 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).
  • Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:19012874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDH15

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CDH15: view

No data available for Genatlas for CDH15 Gene

Publications for CDH15 Gene

  1. The gene for the cell adhesion molecule M-cadherin maps to mouse chromosome 8 and human chromosome 16q24.1-qter and is near the E-cadherin (uvomorulin) locus in both species. (PMID: 1427864) Kaupmann K … Starzinski-Powitz A (Genomics 1992) 2 3 23
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  4. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. (PMID: 19012874) Bhalla K … Srivastava AK (American journal of human genetics 2008) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for CDH15 gene in Mastermind

Products for CDH15 Gene

  • Boster Bio Antibodies for CDH15
  • Boster Bio ELISA Kits for CDH15

Sources for CDH15 Gene