CDH15 (cadherin 15)

Gene

• Entrez ID: 1013
• Gene name: Cadherin 15
• Gene symbol: CDH15
• Synonyms (NCBI Gene): CDH14, CDH3, CDHM, MCAD, MRD3
• Chromosome: 16
• Chromosome location: 16q24.3
• 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 do

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434539	C>T	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs121434541	C>T	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs141170431	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT879697	hsa-miR-1909	CLIP-seq
MIRT879698	hsa-miR-1913	CLIP-seq
MIRT879699	hsa-miR-3173-3p	CLIP-seq
MIRT879700	hsa-miR-3189-5p	CLIP-seq
MIRT879701	hsa-miR-324-3p	CLIP-seq
MIRT879702	hsa-miR-4476	CLIP-seq
MIRT879703	hsa-miR-4529-5p	CLIP-seq
MIRT879704	hsa-miR-4533	CLIP-seq
MIRT879705	hsa-miR-4695-5p	CLIP-seq
MIRT879706	hsa-miR-4700-3p	CLIP-seq
MIRT879707	hsa-miR-4758-3p	CLIP-seq
MIRT879708	hsa-miR-485-5p	CLIP-seq
MIRT1960697	hsa-miR-1538	CLIP-seq
MIRT1960698	hsa-miR-1915	CLIP-seq
MIRT1960699	hsa-miR-3181	CLIP-seq
MIRT1960700	hsa-miR-4745-3p	CLIP-seq
MIRT1960701	hsa-miR-4783-3p	CLIP-seq
MIRT1960697	hsa-miR-1538	CLIP-seq
MIRT1960699	hsa-miR-3181	CLIP-seq
MIRT1960700	hsa-miR-4745-3p	CLIP-seq
MIRT1960701	hsa-miR-4783-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9545347
GO:0005901	Component	Caveola	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007043	Process	Cell-cell junction assembly	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9545347
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0034332	Process	Adherens junction organization	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045296	Function	Cadherin binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 114019
• HGNC: 1754
• e!Ensembl: ENSG00000129910

Protein

• UniProt ID: P55291
• Protein name: Cadherin-15 (Cadherin-14) (Muscle cadherin) (M-cadherin)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	50 → 143	Cadherin domain	Domain
  PF00028	Cadherin	157 → 251	Cadherin domain	Domain
  PF00028	Cadherin	266 → 367	Cadherin domain	Domain
  PF00028	Cadherin	380 → 474	Cadherin domain	Domain
  PF01049	Cadherin_C	632 → 783	Cadherin cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain and cerebellum. {ECO:0000269|PubMed:19012874}.
• Sequence:

  MDAAFLLVLGLLAQSLCLSLGVPGWRRPTTLYPWRRAPALSRVRRAWVIPPISVSENHKR
  LPYPLVQIKSDKQQLGSVIYSIQGPGVDEEPRGVFSIDKFTGKVFLNAMLDREKTDRFRL
  RAFALDLGGSTLEDPTDLEIVVVDQNDNRPAFLQEAFTGRVLEGAVPGTYVTRAEATDAD
  DPETDNAALRFSILQQGSPELFSIDELTGEIRTVQVGLDREVVAVYNLTLQVADMSGDGL
  TATASAIITLDDINDNAPEFTRDEFFMEAIEAVSGVDVGRLEVEDRDLPGSPNWVARFTI
  LEGDPDGQFTIRTDPKTNEGVLSIVKALDYESCEHYELKVSVQNEAPLQAAALRAERGQA
  KVRVHVQDTNEPPVFQENPLRTSLAEGAPPGTLVATFSARDPDTEQLQRLSYSKDYDPED
  WLQVDAATGRIQTQHVLSPASPFLKGGWYRAIVLAQDDASQPRTATGTLSIEILEVNDHA
  PVLAPPPPGSLCSEPHQGPGLLLGATDEDLPPHGAPFHFQLSPRLPELGRNWSLSQVNVS
  HARLRPRHQVPEGLHRLSLLLRDSGQPPQQREQPLNVTVCRCGKDGVCLPGAAALLAGGT
  GLSLGALVIVLASALLLLVLVLLVALRARFWKQSRGKGLLHGPQDDLRDNVLNYDEQGGG
  EEDQDAYDISQLRHPTALSLPLGPPPLRRDAPQGRLHPQPPRVLPTSPLDIADFINDGLE
  AADSDPSVPPYDTALIYDYEGDGSVAGTLSSILSSQGDEDQDYDYLRDWGPRFARLADMY
  GHPCGLEYGARWDHQAREGLSPGALLPRHRGRTA

• Sequence length: 814

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Adherens junctions interactions
Myogenesis

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Melanoma	Melanoma	N/A	N/A	GWAS
Mental retardation	Intellectual disability, autosomal dominant 3, intellectual disability	N/A	N/A	ClinVar, GenCC
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35242247
Breast Neoplasms	Associate	33899544
Epilepsy	Associate	40591616
Glioblastoma	Associate	34238116
Heart Defects Congenital	Associate	28422132
Intellectual Disability	Associate	19012874
Language Development Disorders	Associate	32604767
Lymphoma Large B Cell Diffuse	Associate	39261532
Neoplasms	Associate	33899544
Neurodegenerative Diseases	Associate	40037332
NF1 Microduplication Syndrome	Associate	32604767
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	33408168
Seizures	Associate	37862918, 40591616