CDH4 (cadherin 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1002
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDH4
Synonyms (NCBI Gene) Gene synonyms aliases
CAD4, R-CAD, RCAD
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. B
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs765815715 G>A,C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(75)
miRTarBase ID miRNA Experiments Reference
MIRT023656 hsa-miR-1-3p Microarray 18668037
MIRT624382 hsa-miR-204-5p HITS-CLIP 23824327
MIRT624381 hsa-miR-211-5p HITS-CLIP 23824327
MIRT624380 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT624379 hsa-miR-6515-3p HITS-CLIP 23824327
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(25)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
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
603006 1763 ENSG00000179242
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P55283
Protein name Cadherin-4 (Retinal cadherin) (R-CAD) (R-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. May play an important role
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08758 Cadherin_pro 30 → 120 Cadherin prodomain like Domain
PF00028 Cadherin 174 → 268 Cadherin domain Domain
PF00028 Cadherin 282 → 383 Cadherin domain Domain
PF00028 Cadherin 397 → 499 Cadherin domain Domain
PF00028 Cadherin 512 → 606 Cadherin domain Domain
PF01049 Cadherin_C 760 → 913 Cadherin cytoplasmic region Family
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in brain but also found in other tissues.
Sequence 
MTAGAGVLLLLLSLSGALRAHNEDLTTRETCKAGFSEDDYTALISQNILEGEKLLQVKFS
SCVGTKGTQYETNSMDFKVGADGTVFATRELQVPSEQVAFTVTAWDSQTAEKWDAVVRLL
VAQTSSPHSGHKPQKGKKVVALDPSPPPKDTLLPWPQHQNANGLRRRKRDWVIPPINVPE
NSRGPFPQQLVRIRSDKDNDIPIRYSITGVGADQPPMEVFSIDSMSGRMYVTRPMDREEH
ASYHLRAHAVDMNGNKVENPIDLYIYVIDMNDNRPEFINQVYNGSVDEGSKPGTYVMTVT
ANDADDSTTANGMVRYRIVTQTPQSPSQNMFTINSETGDIVTVAAGLDREKVQQYTVIVQ
ATDMEGNLNYGLSNTATAIITVTDVNDNPPEFTASTFAGEVPENRVETVVANLTVMDRDQ
PHSPNWNAVYRIISGDPSGHFSVRTDPVTNEGMVTVVKAVDYELNRAFMLTVMVSNQAPL
ASGIQMSFQSTAGVTISIMDINEAPYFPSNHKLIRLEEGVPPGTVLTTFSAVDPDRFMQQ
AVRYSKLSDPASWLHINATNGQITTAAVLDRESLYTKNNVYEATFLAADNGIPPASGTGT
LQIYLIDINDNAPELLPKEAQICEKPNLNAINITAADADVDPNIGPYVFELPFVPAAVRK
NWTITRLNGDYAQLSLRILYLEAGMYDVPIIVTDSGNPPLSNTSIIKVKVCPCDDNGDCT
TIGAVAAAGLGTGAIVAILICILILLTMVLLFVMWMKRREKERHTKQLLIDPEDDVRDNI
LKYDEEGGGEEDQDYDLSQLQQPEAMGHVPSKAPGVRRVDERPVGAEPQYPIRPMVPHPG
DIGDFINEGLRAADNDPTAPPYDSLLVFDYEGSGSTAGSVSSLNSSSSGDQDYDYLNDWG
PRFKKLADMYGGGEED
Sequence length 916
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome N/A N/A GenCC
Prostate cancer Prostate cancer (early onset) N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 32329852
Adenocarcinoma of Lung Associate 35242247
Breast Neoplasms Associate 33899544
Bronchopulmonary Dysplasia Inhibit 39988826
Carcinoma Acinar Cell Associate 34629449
Carcinoma Renal Cell Associate 32511216
Cleft Palate Associate 35191549
Colorectal Neoplasms Associate 24980446
Darier Disease Associate 37496039
Drug Related Side Effects and Adverse Reactions Associate 27749787