CDH15 (cadherin 15)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1013
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDH15
Synonyms (NCBI Gene) Gene synonyms aliases
CDH14, CDH3, CDHM, MCAD, MRD3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCAD, MRD3
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Summary Summary of gene provided in NCBI Entrez 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 do
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA 21873635
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 TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114019 1754 ENSG00000129910
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell adhesion molecules   Adherens junctions interactions
Myogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Mental retardation Mental Retardation, Autosomal Dominant 3, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 19012874, 26506440
Non-syndromic intellectual disability Autosomal dominant non-syndromic intellectual disability rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (13)
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