Name | cadherin 1, type 1, E-cadherin (epithelial) |
Symbol | CDH1 |
Aliases | UVO; CDHE; ECAD; LCAM; Arc-1; uvomorulin; cell-CAM 120/80; cadherin 1, E-cadherin (epithelial); calcium-dependent adhesion protein, epithelial |
Gene Product | - cadherin 1, type 1 preproprotein
|
Category | - Gross deletion in Prostate cancer
- Methylation in Prostate cancer
- Mutation in Prostate cancer
- Polymorphism in Prostate cancer
|
UniGene | Hs.194657 |
OMIM | 192090 |
Locus | 999 |
Summary | 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. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. |
Gene Ontology | |
Expression | EST (496 ESTs, 227 libraries) |
Tissue ? |
Frequency ? |
Count ? |
b cells (1/1) | | 1/16734 |
blood (1/27) | | 3/40686 |
bone marrow (1/263) | | 1/38555 |
brain (3/204) | | 4/362011 |
colon (33/853) | | 64/165626 |
ear (1/2) | | 4/12660 |
embryo (1/19) | | 2/37976 |
esophagus (1/6) | | 2/3022 |
foreskin (1/4) | | 10/20040 |
gall (1/3) | | 1/2502 |
germ cell (2/7) | | 3/57383 |
head and neck (24/990) | | 38/79796 |
heart (2/22) | | 3/55494 |
intestine (1/4) | | 1/11528 |
kidney (8/86) | | 11/132968 |
liver (3/38) | | 3/46472 |
lung (15/312) | | 25/245386 |
muscle (1/21) | | 2/71297 |
nervous (1/475) | | 2/43438 |
ovary (4/144) | | 4/81880 |
pancreas (6/33) | | 14/117255 |
parathyroid (1/4) | | 8/19377 |
placenta (8/342) | | 33/157762 |
prostate (5/291) | | 8/109871 |
skin (5/31) | | 7/100815 |
spleen (1/7) | | 2/9511 |
stomach (12/312) | | 48/129930 |
testis (1/171) | | 1/117531 |
thymus (1/17) | | 1/5021 |
thyroid (1/24) | | 4/6853 |
uncharacterized tissue (52/1773) | | 103/713325 |
uterus (18/212) | | 39/155110 |
|
SAGE (18258534 tags, 359 libraries) |
Tissue ? |
Frequency ? |
Count ? |
blood (1/1) | | 1/48523 |
brain (17/19) | | 58/2908545 |
cerebellum (1/1) | | 5/102560 |
colon (8/8) | | 211/2356695 |
eye (6/6) | | 31/1464242 |
heart (1/1) | | 6/253071 |
kidney (2/2) | | 8/138091 |
liver (1/1) | | 3/66861 |
lung (1/1) | | 13/534858 |
mammary gland (18/19) | | 253/2355591 |
muscle (1/2) | | 2/107750 |
ovary (8/10) | | 36/729570 |
pancreas (8/8) | | 87/1067335 |
prostate (12/13) | | 132/2426250 |
skin (6/7) | | 9/100163 |
stomach (3/3) | | 70/848493 |
uncharacterized tissue (21/22) | | 122/2253112 |
vascular (3/3) | | 9/496824 |
|
|
SNP | rs2276327 (G/C:coding-nonsyn);  rs2098728 (A/G:intron);  rs2012923 (C/T:intron);  rs1981870 (C/T:intron);  rs2161664 (C/T:intron);  rs1801552 (C/T:coding-nonsyn);  rs1078621 (C/T:intron);  rs2961 (A/G:intron);  rs1968260 (C/T:intron);  rs1812452 (C/G:intron);  rs2862231 (C/T:intron);  rs2059254 (C/T:intron);  rs3074434 (-/AAAAAA:intron);  rs1075384 (C/T:intron);  rs1116485 (C/T:intron);  rs2010724 (A/G:intron);  rs1075959 (C/T:intron);  rs13689 (T/C:mrna-utr);  rs1801023 (C/T:mrna-utr);  rs1138533 (A/G:mrna-utr);  rs2229044 (C/T:coding-nonsyn);  rs1862748 (A/G:intron);  rs1125557 (A/G:intron);  rs16260 (C/A:locus-region);  rs1974873 (A/T:intron);  rs2113199 (G/A:intron);  rs1559366 (A/G:intron);  rs2011779 (C/T:intron);  rs2902185 (A/G:intron);   |
Evidence | Gross deletion in Prostate cancer
Methylation in Prostate cancer
Mutation in Prostate cancer
Polymorphism in Prostate cancer
|