Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1013
Gene name	Cadherin 15
Gene symbol	CDH15
Synonyms (NCBI Gene)	CDH14CDH3CDHMMCADMRD3
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

Show/Hide all (3)

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

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (25)

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

MIM	HGNC	e!Ensembl
114019	1754	ENSG00000129910

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

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Adherens junctions interactions Myogenesis

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CDH15-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs367770505, rs749838702, rs1045002194, rs1597305873, rs2151600915, rs373216025, rs144216511, rs756248561, rs374687154, rs1195088315, rs879802247, rs913394835, rs769804850, rs370773746, rs369841519 View all (7 more)	RCV003422093 RCV003399677 RCV003391280 RCV003399968 RCV003400051 RCV003909217 RCV003909221 RCV003909508 RCV003906799 RCV003941843 RCV003941645 RCV003949763 RCV003914389 RCV003959144 RCV003954399 RCV003957332 RCV003964805 RCV004722821 RCV003932822 RCV003962370 RCV003905999 RCV003950381
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	rs150599325, rs2270416, rs376583874, rs200026741, rs374288437, rs748843685, rs138572161	RCV005626467 RCV001252188 RCV005356409 RCV005356413 RCV005356020 RCV000681506 RCV005359660
Intellectual disability, autosomal dominant 1	Uncertain significance	rs138572161	RCV003336632
Intellectual disability, autosomal dominant 3	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1399460063, rs1915650865, rs755920647, rs1405526562, rs1330797153, rs1179286148, rs760002983, rs1725146797, rs139669848, rs2151605313, rs72819366, rs75791347, rs3815615, rs147301479, rs369302977 View all (11 more)	RCV001329331 RCV001329332 RCV001336754 RCV001336755 RCV001336751 RCV001336752 RCV001336753 RCV001420583 RCV001591728 RCV001837337 RCV001554478 RCV001554479 RCV001554480 RCV002490790 RCV002244145 RCV005012955 RCV000019209 RCV000019210 RCV000019211 RCV004577244 RCV000755641 RCV000989655 RCV000989656 RCV000989657 RCV001007608 RCV005012550 RCV005225574
Neurofibromatosis, type 1	Conflicting classifications of pathogenicity	rs150599325	RCV005626466
See cases	Uncertain significance	rs2151602072	RCV002253033

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

CDH15 (cadherin 15)