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Aliases for CDH15 Gene

Aliases for CDH15 Gene

  • Cadherin 15 2 3 5
  • Cadherin 15, Type 1, M-Cadherin (Myotubule) 2 3
  • Cadherin-14 3 4
  • CDH14 3 4
  • CDH3 3 4
  • Cadherin 15, M-Cadherin (Myotubule) 2
  • Muscle-Cadherin 3
  • Muscle Cadherin 4
  • Cadherin-15 3
  • Cadherin-3 3
  • M-Cadherin 4
  • MCAD 3
  • CDHM 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 CDK-mediated phosphorylation and removal of Cdc6 and Cell junction organization. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH4.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CDH15 Gene

Genomics for CDH15 Gene

Regulatory Elements for CDH15 Gene

Enhancers for CDH15 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H089171 1.1 ENCODE dbSUPER 16.7 +2.2 2153 4 HDAC1 HDGF PKNOX1 ARID4B GLIS2 EGR1 RCOR1 SP3 SP5 NFYC CDH15 ZNF778 ZC3H18 PABPN1L ACSF3 ENSG00000259877 ENSG00000260279 LINC00304 SLC22A31
GH16H089166 1.3 Ensembl ENCODE 13.5 -4.0 -4011 1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 ZC3H18 ZNF778 CDH15 ACSF3 ANKRD11 ENSG00000260279 LINC02138
GH16H089095 1.3 ENCODE dbSUPER 12 -72.1 -72141 8 PKNOX1 ATF1 ARNT SIN3A TCF12 ZNF121 ZNF766 CBX5 GATA2 ATF7 ACSF3 CDK10 CBFA2T3 LOC100129697 LINC02138 CDH15 PABPN1L SLC22A31 ENSG00000260279 PIR52081
GH16H089200 1.1 ENCODE dbSUPER 12.8 +28.7 28663 0 ELF3 TBP ARID4B DMAP1 THRB RARA CREM THAP11 KLF11 SP5 CDH15 LINC02138 CBFA2T3 SLC22A31
GH16H089201 1 ENCODE dbSUPER 12.8 +30.0 30013 0 TBP MXI1 SAP130 ARID4B SIN3A ZIC2 POLR2A EZH2 SP3 BHLHE40 CDH15 LINC02138 CBFA2T3 ZNF778 SLC22A31
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDH15 on UCSC Golden Path with GeneCards custom track

Promoters for CDH15 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089645 -255 601 HDAC1 HDGF PKNOX1 ZFP64 ARID4B GLIS2 EGR1 SP3 SP5 NFYC

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

Genomic Location for CDH15 Gene

Chromosome:
16
Start:
89,171,755 bp from pter
End:
89,195,492 bp from pter
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 StructureGene Density

RefSeq DNA sequence for CDH15 Gene

Proteins for CDH15 Gene

  • 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

Post-translational modifications for CDH15 Gene

  • Glycosylation at posLast=227227, Asn531, Asn538, and posLast=576576
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH15 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CDH15 (M-Cadherin/Cadherin-15)
  • Cloud-Clone Corp. 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

Suggested Antigen Peptide Sequences for CDH15 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for CDH15 Gene

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

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 IEA --
GO:0005515 protein binding IPI 25416956
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

Clone Products

  • Applied Biological Materials Clones for CDH15
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031594 neuromuscular junction IEA --
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

SIGNOR curated interactions for CDH15 Gene

Activates:

Gene Ontology (GO) - Biological Process for CDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 9545347
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0034332 adherens junction organization TAS --
GO:0051149 positive regulation of muscle cell differentiation TAS --
genes like me logo Genes that share ontologies with CDH15: view

Drugs & Compounds for CDH15 Gene

(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 0

(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

mRNA/cDNA for CDH15 Gene

Unigene Clusters for CDH15 Gene

Cadherin 15, type 1, M-cadherin (myotubule):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CDH15
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for CDH15 Gene

GeneLoc Exon Structure for
CDH15
ECgene alternative splicing isoforms for
CDH15

Expression for CDH15 Gene

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



Protein tissue co-expression partners for CDH15 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDH15 Gene:

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(4.5)

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
Organs:
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

Primer Products

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 33 34
  • 98.41 (n)
cow
(Bos Taurus)
Mammalia CDH15 33 34
  • 85.8 (n)
dog
(Canis familiaris)
Mammalia CDH15 33 34
  • 83.4 (n)
mouse
(Mus musculus)
Mammalia Cdh15 33 16 34
  • 82.69 (n)
rat
(Rattus norvegicus)
Mammalia Cdh15 33
  • 82.29 (n)
oppossum
(Monodelphis domestica)
Mammalia CDH15 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDH15 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDH15 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh15 33
  • 60.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10256 33
zebrafish
(Danio rerio)
Actinopterygii cdh15 33 34
  • 53.71 (n)
wufb48f12 33
Species where no ortholog for CDH15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CDH15 Gene

Paralogs for CDH15 Gene

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

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

Variants for CDH15 Gene

Sequence variations from dbSNP and Humsavar for CDH15 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121434539 Pathogenic, Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580] 89,179,551(+) ACAAG(C/T)GTCTC reference, missense
rs121434540 Pathogenic, Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580] 89,180,272(+) AGCCC(C/T)GGGGC reference, missense
rs121434541 Pathogenic, Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580] 89,183,555(+) AAGAG(C/T)GTTTG reference, missense
rs567903921 Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580] 89,171,853(+) TCCTC(C/G)TCCTC reference, missense
rs147301479 Likely benign 89,183,577(+) GGAGG(A/G)TCCAC reference, synonymous-codon

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)

Relevant External Links for CDH15 Gene

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

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

Disorders for CDH15 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
hypotrichosis, congenital, with juvenile macular dystrophy
  • congenital hypotrichosis with juvenile macular dystrophy
16q24.3 microdeletion syndrome
  • chromosome 16q24.3 microdeletion syndrome
deafness, autosomal recessive 89
  • autosomal recessive nonsyndromic deafness 89
telogen effluvium
- 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
  • 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.
  • 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).

Relevant External Links for CDH15

Genetic Association Database (GAD)
CDH15
Human Genome Epidemiology (HuGE) Navigator
CDH15
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDH15
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 22 60
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 45 60
  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 60
  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 60

Products for CDH15 Gene

Sources for CDH15 Gene

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