Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
999
Gene name Gene Name - the full gene name approved by the HGNC.
Cadherin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDH1
Synonyms (NCBI Gene) Gene synonyms aliases
Arc-1, BCDS1, CD324, CDHE, ECAD, LCAM, UVO
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000029 hsa-miR-9-5p Western blot 19572217
MIRT006029 hsa-miR-92a-3p Luciferase reporter assay, Northern blot, qRT-PCR 21148309
MIRT006230 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 22450326
MIRT006029 hsa-miR-92a-3p Luciferase reporter assay, Northern blot, qRT-PCR 21148309
MIRT006230 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 22450326
Transcription factors
Transcription factor Regulation Reference
AR Repression 18794357
CBX7 Activation 19706751
DNMT1 Repression 18049164
DNMT1 Unknown 21846773
ESR1 Unknown 17893710
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
192090 1748 ENSG00000039068
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Blepharocheilodontic Syndrome blepharocheilodontic syndrome 1 rs886039685, rs1555515925, rs1555515445 N/A
Breast Cancer Malignant tumor of breast rs1131690820, rs878854697, rs121964878, rs786202033, rs864622655 N/A
Cleft Lip With Or Without Cleft Palate cleft lip with or without cleft palate rs759207947, rs1367108095, rs1961434061 N/A
gastric cancer Gastric cancer rs746481984, rs121964873, rs1567516230, rs587780784, rs587781276 N/A
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
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-microphthalmia syndrome N/A N/A ClinVar
Breast Carcinoma hereditary breast carcinoma, breast carcinoma N/A N/A GenCC, ClinVar
Cleft Soft Palate cleft soft palate N/A N/A GenCC
colon cancer Colon cancer N/A N/A ClinVar
Associations from Text Mining Disease 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