Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 1001
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CDH3   Gene   UCSC   Ensembl
Aliases CDHP, HJMD, PCAD
Gene name cadherin 3
Alternate names cadherin-3, cadherin 3, type 1, P-cadherin (placental), calcium-dependent adhesion protein, placental,
Gene location 16q22.1 (21825784: 21825697)     Exons: 1     NC_000018.10
Gene summary(Entrez) 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 calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]
OMIM 114021

SNPs

 rs4957014

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000667.2   g.287899T>G
NC_000005.10   g.287899T>G
NC_000005.9   g.288014T>G
NM_001267556.1   c.163+15127T>G
NM_001267557.1   c.163+15127T>G
NM_001267558.1   c.-48+15127T>G
NM_001267559.1   c.163+15127T>G
NM_013232.3   c.163+15127T>G

Protein Summary
Protein general information P22223  

Name: Cadherin-3 (Placental cadherin) (P-cadherin)

Length: 829  Mass: 91,418

Tissue specificity: Expressed in some normal epithelial tissues and in some carcinoma cell lines. {ECO

Sequence MGLPRGPLASLLLLQVCWLQCAASEPCRAVFREAEVTLEAGGAEQEPGQALGKVFMGCPGQEPALFSTDNDDFTV
RNGETVQERRSLKERNPLKIFPSKRILRRHKRDWVVAPISVPENGKGPFPQRLNQLKSNKDRDTKIFYSITGPGA
DSPPEGVFAVEKETGWLLLNKPLDREEIAKYELFGHAVSENGASVEDPMNISIIVTDQNDHKPKFTQDTFRGSVL
EGVLPGTSVMQVTATDEDDAIYTYNGVVAYSIHSQEPKDPHDLMFTIHRSTGTISVISSGLDREKVPEYTLTIQA
TDMDGDGSTTTAVAVVEILDANDNAPMFDPQKYEAHVPENAVGHEVQRLTVTDLDAPNSPAWRATYLIMGGDDGD
HFTITTHPESNQGILTTRKGLDFEAKNQHTLYVEVTNEAPFVLKLPTSTATIVVHVEDVNEAPVFVPPSKVVEVQ
EGIPTGEPVCVYTAEDPDKENQKISYRILRDPAGWLAMDPDSGQVTAVGTLDREDEQFVRNNIYEVMVLAMDNGS
PPTTGTGTLLLTLIDVNDHGPVPEPRQITICNQSPVRQVLNITDKDLSPHTSPFQAQLTDDSDIYWTAEVNEEGD
TVVLSLKKFLKQDTYDVHLSLSDHGNKEQLTVIRATVCDCHGHVETCPGPWKGGFILPVLGAVLALLFLLLVLLL
LVRKKRKIKEPLLLPEDDTRDNVFYYGEEGGGEEDQDYDITQLHRGLEARPEVVLRNDVAPTIIPTPMYRPRPAN
PDEIGNFIIENLKAANTDPTAPPYDTLLVFDYEGSGSDAASLSSLTSSASDQDQDYDYLNEWGSRFKKLADMYGG
GEDD
Structural information
Protein Domains
 Cadherin (108-215)
Cadherin (216-328)
Cadherin (329-440)
Cadherin (441-546)
Cadherin (547-650)
Interpro:  IPR002126 IPR015919 IPR020894 IPR000233 IPR014868 IPR027397
Prosite:   PS00232 PS50268

Pfam:  		 PF00028 PF01049

PDB:  		 4OY9 4ZML 4ZMN 4ZMO 4ZMP 4ZMQ 4ZMT 4ZMV 4ZMW 4ZMX 4ZMY 4ZMZ 5JYL 5JYM
PDBsum:   4OY9 4ZML 4ZMN 4ZMO 4ZMP 4ZMQ 4ZMT 4ZMV 4ZMW 4ZMX 4ZMY 4ZMZ 5JYL 5JYM
STRING:   ENSP00000264012;
Other Databases GeneCards:  CDH3;  Malacards:  CDH3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001895 retina homeostasis
 IMP biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005509 calcium ion binding
 IEA molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005913 cell-cell adherens juncti
on
 IEA cellular_component
GO:0007155 cell adhesion
 TAS biological_process
GO:0007156 homophilic cell adhesion
via plasma membrane adhes
ion molecules
 IEA biological_process
GO:0007601 visual perception
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010838 positive regulation of ke
ratinocyte proliferation
 IMP biological_process
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
 IEA biological_process
GO:0022405 hair cycle process
 IMP biological_process
GO:0031424 keratinization
 IMP biological_process
GO:0032773 positive regulation of mo
nophenol monooxygenase ac
tivity
 IMP biological_process
GO:0032912 negative regulation of tr
ansforming growth factor
beta2 production
 IMP biological_process
GO:0034332 adherens junction organiz
ation
 TAS biological_process
GO:0042060 wound healing
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
 IMP biological_process
GO:0048023 positive regulation of me
lanin biosynthetic proces
s
 IMP biological_process
GO:0051796 negative regulation of ca
tagen
 IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
 IMP biological_process
GO:0060901 regulation of hair cycle
by canonical Wnt signalin
g pathway
 IMP biological_process
GO:1902910 positive regulation of me
lanosome transport
 IMP biological_process
GO:0001895 retina homeostasis
 IMP biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005509 calcium ion binding
 IEA molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005913 cell-cell adherens juncti
on
 IEA cellular_component
GO:0007155 cell adhesion
 IEA biological_process
GO:0007155 cell adhesion
 IEA biological_process
GO:0007155 cell adhesion
 TAS biological_process
GO:0007156 homophilic cell adhesion
via plasma membrane adhes
ion molecules
 IEA biological_process
GO:0007601 visual perception
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010838 positive regulation of ke
ratinocyte proliferation
 IMP biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
 IEA biological_process
GO:0022405 hair cycle process
 IMP biological_process
GO:0031424 keratinization
 IMP biological_process
GO:0032773 positive regulation of mo
nophenol monooxygenase ac
tivity
 IMP biological_process
GO:0032912 negative regulation of tr
ansforming growth factor
beta2 production
 IMP biological_process
GO:0034332 adherens junction organiz
ation
 TAS biological_process
GO:0042060 wound healing
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
 IMP biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0048023 positive regulation of me
lanin biosynthetic proces
s
 IMP biological_process
GO:0050896 response to stimulus
 IEA biological_process
GO:0051796 negative regulation of ca
tagen
 IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
 IMP biological_process
GO:0060901 regulation of hair cycle
by canonical Wnt signalin
g pathway
 IMP biological_process
GO:1902910 positive regulation of me
lanosome transport
 IMP biological_process
GO:0001895 retina homeostasis
 IMP biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005886 plasma membrane
 IDA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0007155 cell adhesion
 TAS biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010838 positive regulation of ke
ratinocyte proliferation
 IMP biological_process
GO:0022405 hair cycle process
 IMP biological_process
GO:0031424 keratinization
 IMP biological_process
GO:0032773 positive regulation of mo
nophenol monooxygenase ac
tivity
 IMP biological_process
GO:0032912 negative regulation of tr
ansforming growth factor
beta2 production
 IMP biological_process
GO:0034332 adherens junction organiz
ation
 TAS biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
 IMP biological_process
GO:0048023 positive regulation of me
lanin biosynthetic proces
s
 IMP biological_process
GO:0051796 negative regulation of ca
tagen
 IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
 IMP biological_process
GO:0060901 regulation of hair cycle
by canonical Wnt signalin
g pathway
 IMP biological_process
GO:1902910 positive regulation of me
lanosome transport
 IMP biological_process

Diseases

Associated diseases References
Colorectal cancer PMID: 20844743
Diabetes mellitus PMID: 17903298
Endometriosis PMID: 12112590
Endometriosis INFBASE12112590
Ulcerative colitis PMID: 19915572

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12112590 Endometrio
sis

P-cadherin
 Show abstract