Gene Gene information from NCBI Gene database.
Entrez ID 999
Gene name Cadherin 1
Gene symbol CDH1
Synonyms (NCBI Gene)
Arc-1BCDS1CD324CDHEECADLCAMUVO
Chromosome 16
Chromosome location 16q22.1
Summary This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This cal
SNPs SNP information provided by dbSNP.
231
SNP ID Visualize variation Clinical significance Consequence
rs16260 C>A Risk-factor Upstream transcript variant
rs33935154 G>A,T Benign, pathogenic, benign-likely-benign, uncertain-significance 5 prime UTR variant, missense variant, coding sequence variant
rs34507583 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs35572355 G>A,C,T Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
rs35606263 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity 5 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1076
miRTarBase ID miRNA Experiments Reference
MIRT000029 hsa-miR-9-5p Western blot 19572217
MIRT006029 hsa-miR-92a-3p Luciferase reporter assayNorthern blotqRT-PCR 21148309
MIRT006230 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 22450326
MIRT006029 hsa-miR-92a-3p Luciferase reporter assayNorthern blotqRT-PCR 21148309
MIRT006230 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 22450326
Transcription factors Transcription factors information provided by TRRUST V2 database.
59
Transcription factor Regulation Reference
AR Repression 18794357
CBX7 Activation 19706751
DNMT1 Repression 18049164
DNMT1 Unknown 21846773
ESR1 Unknown 17893710
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IBA
GO:0002159 Process Desmosome assembly IMP 29999492
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 10725230, 11401320, 11790773, 12526809, 15695390, 16212417, 16983094, 17220478, 17237808, 17274640, 17715295, 18093941, 18593713, 19016843, 19038973, 19604117, 19732724, 19822757, 20086044, 21685945, 22056988, 22158051, 22252131, 22294297, 22750944, 23086448, 24189400, 24424122, 246
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
192090 1748 ENSG00000039068
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12830
Protein name Cadherin-1 (CAM 120/80) (Epithelial cadherin) (E-cadherin) (Uvomorulin) (CD antigen CD324) [Cleaved into: E-Cad/CTF1; E-Cad/CTF2; E-Cad/CTF3]
Protein function Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is
PDB 1O6S , 2O72 , 2OMT , 2OMU , 2OMV , 2OMX , 2OMY , 2OMZ , 3FF7 , 3FF8 , 3L6X , 3L6Y , 4ZT1 , 4ZTE , 6CXY , 6OLE , 6OLF , 6OLG , 6VEL , 7STZ , 8H62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08758 Cadherin_pro 27 116 Cadherin prodomain like Domain
PF00028 Cadherin 159 253 Cadherin domain Domain
PF00028 Cadherin 267 366 Cadherin domain Domain
PF00028 Cadherin 380 478 Cadherin domain Domain
PF00028 Cadherin 491 585 Cadherin domain Domain
PF00028 Cadherin 598 686 Cadherin domain Domain
PF01049 Cadherin_C 733 879 Cadherin cytoplasmic region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in granuloma macrophages (at protein level) (PubMed:27760340). Expressed in the skin (at protein level) (PubMed:22294297). Expressed in the liver (PubMed:3263290). {ECO:0000269|PubMed:22294297, ECO:0000269|PubMed:27760340, EC
Sequence
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDC
TGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTL
NTVG
HHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKS
NKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVT
DQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAI
AYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTAT
AVITVT
DTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDG
GQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVL
DV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTG
AISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLIL
SDVNDNAPIPEPRTI
FFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEV
GDYKINLKLMDNQNKDQVTTLEVSVC
DCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARP
EVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGS
EAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGG
EDD
Sequence length 882
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Rap1 signaling pathway
Apelin signaling pathway
Hippo signaling pathway
Cell adhesion molecules
Adherens junction
Bacterial invasion of epithelial cells
Pathways in cancer
Endometrial cancer
Thyroid cancer
Melanoma
Bladder cancer
Gastric cancer
  Degradation of the extracellular matrix
Integrin cell surface interactions
Apoptotic cleavage of cell adhesion proteins
Adherens junctions interactions
RHO GTPases activate IQGAPs
InlA-mediated entry of Listeria monocytogenes into host cells
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8741
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Blepharocheilodontic syndrome 1 Likely pathogenic; Pathogenic rs2152134773, rs886039685, rs1555515925, rs1555515445, rs765929630 RCV001731127
RCV000505772
RCV000505716
RCV000505743
RCV005021486
Breast carcinoma Likely pathogenic rs2152129697 RCV001667852
Breast lobular carcinoma Pathogenic rs121964873 RCV000013021
Carcinoma of parotid gland Pathogenic rs2543816786 RCV006254365
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Likely benign rs200310662 RCV000207407
Breast and/or ovarian cancer Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs1961376847, rs2152134806, rs753223955, rs1555517637, rs370864592, rs372989292, rs587780119, rs587780120, rs200894246, rs139757930, rs200673941, rs200310662, rs139866691, rs587778174, rs2276331
View all (59 more)
RCV001799090
RCV001799303
RCV001799304
RCV001799305
RCV003149805
RCV001798345
RCV003492498
RCV003149806
RCV001798346
RCV001798347
RCV003149807
RCV001798348
RCV001798349
RCV003492514
RCV001798384
RCV003492525
RCV003149841
RCV003149842
RCV001798405
RCV001798406
RCV003149843
RCV003149855
RCV003149856
RCV001798417
RCV003492567
RCV001798418
RCV001798419
RCV001798420
RCV003149884
RCV001798437
RCV003492598
RCV001798445
RCV003492601
RCV001798454
RCV003149909
RCV003492736
RCV003492740
RCV003150561
RCV001798549
RCV001798550
RCV003149992
RCV003492682
RCV003491906
RCV003149990
RCV001798586
RCV001170353
RCV003492675
RCV003491885
RCV001798572
RCV003149991
RCV001798581
RCV001798564
RCV003491889
RCV001798568
RCV003491947
RCV003491939
RCV003491985
RCV003150682
RCV003150795
RCV003150796
RCV001798739
RCV001798746
RCV001798001
RCV001798002
RCV003493311
RCV003492036
RCV003150209
RCV001798801
RCV001798831
RCV003150282
RCV001798068
RCV001798069
RCV003492165
RCV001798974
RCV003492204
Breast cancer, susceptibility to Conflicting classifications of pathogenicity rs730881664 RCV005620348
Breast neoplasm Benign rs35187787 RCV000148453
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Inhibit 27793380, 30806528
Abortion Spontaneous Stimulate 26272359
Acantholysis Associate 30484070
Accidental Injuries Associate 16367920
Acromegaly Associate 30843342, 39201352
Acute Lung Injury Associate 29402133
Adenocarcinoma Associate 10408414, 10789716, 11027430, 12194995, 12393869, 12439911, 15452164, 16948518, 18286686, 19653727, 20922573, 21574102, 23121893, 25004291, 25120788
View all (9 more)
Adenocarcinoma Inhibit 11304579, 22583970, 34706517, 36928883, 8353041, 9422531
Adenocarcinoma Stimulate 26881627
Adenocarcinoma Follicular Associate 16224162, 25329121, 26097548, 32093341