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CDH1 Gene

protein-coding GIFtS: 71

GC16P067328

cadherin 1, type 1, E-cadherin (epithelial)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: UVO)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
Arc-1 ^²
CD324 ^¹, ²
CDHE ^², ³
E-cadherin ^³
ECAD ^², ⁵
LCAM ^², ⁵
UVO ^², ³, ⁵
Uvomorulin ^³
uvomorulin ^¹, ²

Descriptions
CAM 120/80 ^³
CD324 antigen ^³
Epithelial cadherin ^³
cadherin 1, E-cadherin (epithelial) ^²
cadherin 1, type 1 ^²
cadherin 1, type 1, E-cadherin (epithelial) ^²
calcium-dependent adhesion protein, epithelial ^²
cell-CAM 120/80 ^²

External Ids
HGNC: 1748¹
Entrez Gene: 999²
UniProtKB: P12830³
Ensembl: ENSG00000039068⁷

Search outside databases for aliases for CDH1 gene

Previous GC identifers: GC16P059456 GC16P069148 GC16P068506 GC16P068547

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CDH1:

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. [provided by RefSeq]

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830

Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong

inhibitory effect on APP C99 and C83 production

Gene Wiki entry for CDH1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CDH1 gene

Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22.1

CDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P067328: (about GC identifiers)

Start:	67,328,696 bp from pter
End:	67,426,945 bp from pter
Size:	98,250 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_010498.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830 (See protein sequence)

Recommended Name: Cadherin-1 precursor

Size: 882 amino acids; 97456 Da

Subunit: Homodimer; disulfide-linked. Interacts directly, via the cytoplasmic domain, with CTNNB1

or JUP to form the PSEN1/cadherin/catenin adhesion complex which connects to the actin skeleton

through the actin binding of alpha-catenin. Interaction with PSEN1, cleaves CDH1 resulting in the

disassociation of cadherin-based adherens junctions (CAJs). Interacts with AJAP1, CTNND1 and

DLGAP5

Subcellular location: Cell junction. Cell membrane; Single-pass type I membrane protein.

Note=Colocalizes with DLGAP5 at sites of cell-cell contact in intestinal epithelial cells.

Anchored to actin microfilaments through association with alpha-, beta- and gamma-catenin.

Sequential proteolysis induced by apoptosis or calcium influx, results in translocation from sites

of cell-cell contact to the cytoplasm

Sequence caution: Sequence=AAA61259.1; Type=Frameshift; Positions=16, 22, 25, 28, 31, 34, 52, 67,

73, 76, 94, 102, 633, 636;

PDB structures from and Proteopedia :

1O6S (3D)

2O72 (3D)

2OMT (3D)

2OMU (3D)

2OMV (3D)

2OMX (3D)

2OMY (3D)

2OMZ (3D)

Secondary accessions: Q13799 Q14216 Q15855 Q16194 Q4PJ14

Post-translational modifications:

During apoptosis or with calcium influx, cleaved by a membrane-bound metalloproteinase (ADAM10),

PS1/gamma-secretase and caspase-3 to produce fragments of about 38 kDa (E-CAD/CTF1), 33 kDa

(E-CAD/CTF2) and 29 kDa (E-CAD/CTF3), respectively. Processing by the metalloproteinase, induced

by calcium influx, causes disruption of cell-cell adhesion and the subsequent release of

beta-catenin into the cytoplasm. The residual membrane-tethered cleavage product is rapidly

degraded via an intracellular proteolytic pathway. Cleavage by caspase-3 releases the cytoplasmic

tail resulting in disintegration of the actin microfilament system. The gamma-secretase-mediated

cleavage promotes disaaaembly of adherens junctions¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_004351.1

ENSEMBL proteins:

ENSP00000268794 ENSP00000261769 ENSP00000368415

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins and CompoZr ZFN for CDH1
	R&D Systems Recombinant & Natural Proteins for CDH1 (E-Cadherin)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (pan Cadherin, E Cadherin)
	Human Recombinant Proteins from Abnova (CDH1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/11 Gene Ontology (GO) cellular component terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18029348
GO:0005794	Golgi apparatus	IDA	18029348
GO:0005886	plasma membrane	IEA	--
GO:0005913	cell-cell adherens junction	IDA	16338932
GO:0005925	focal adhesion	IDA	18029348

About this table

Antibodies for CDH1:

	Invitrogen Antibodies for CDH1
	Millipore Mono- and Polyclonal Antibodies for the study of CDH1
	Sigma-Aldrich Antibody Arrays and Antibodies for CDH1
	R&D Systems Antibodies for CDH1 (E-Cadherin)
	Cell Signaling Technology (CST) Antibodies for CDH1 (E-Cadherin)
	Antibodies from Abcam (pan Cadherin, E Cadherin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CDH1)
	Novus Biologicals Antibodies for CDH1

Assays for CDH1:

	Invitrogen Assays for CDH1
	Millipore Kits and Assays for the Analysis of CDH1
	R&D Systems ELISAs for CDH1 (E-Cadherin) (see all)
	Cell Signaling Technology (CST) Sandwich ELISA Kits for CDH1 (E-Cadherin)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P12830

ProtoNet protein and cluster: P12830

2 Blocks protein families:

IPB000233 Cadherin cytoplasmic region

IPB002126 Cadherin

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830

Similarity: Contains 5 cadherin domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CDH1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CDH1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004360

Applied Biosystems Silencer® siRNAs for CDH1

Sigma-Aldrich siRNA and siRNA Panels for CDH1

Sigma-Aldrich shRNA Panels and shRNA for CDH1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_004360
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004360
untagged cDNA clone in CMV expression vector: NM_004360

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_004360

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830

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. CDH1 is involved in mechanisms regulating cell-cell

adhesions, mobility and proliferation of epithelial cells. Has a potent invasive suppressor role.

It is a ligand for integrin alpha-E/beta-7

Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong

inhibitory effect on APP C99 and C83 production

Genatlas biochemistry entry for CDH1:

cadherin 1,E-cadherin,transmembrane glycoprotein major adhesion receptor component of adherens

junction,expressed in epithelial cell,downregulator of cell growth,complexing with CTNNB1,mutated

in signet ring cell carcinoma of stomach (with poor clinical outcome) in colorectal cancer and in

lobular breast cancer (see TSG16A) not in adenocarcinoma of the oesophagus,deleted during

development of carcinomas (see TSG16H and TSG16A),involved in metaplasia of ovarian surface

epithelium and in ovarian neoplastic progression

13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Cdh1):

	cellular	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	homeostasis/metabolism	immune system	lethality-prenatal/perinatal	normal
reproductive system	skin/coat/nails	tumorigenesis

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0016563	transcription activator activity	IDA	16338932
GO:0050839	cell adhesion molecule binding	NAS	16338932

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for CDH1 (Your Favorite Gene powered by Ingenuity) (see all 6 )

IL-8 Signaling
Thyroid Cancer Signaling
Germ Cell-Sertoli Cell Junction Signaling
Wnt/&beta
Molecular Mechanisms of Cancer

GeneDecks CDH1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CDH1

5/280 Interacting proteins for CDH1 (P12830^{1, 2} ENSP00000268794³) via UniProtKB, MINT, and/or STRING (see all 280 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTNNA1	P35221², ENSP00000347190³	MINT-7010191 STRING (score=.999)
PSEN1	P49768², ENSP00000326366³	MINT-49819 STRING (score=.992)
PRKD1	Q15139¹, ENSP00000333568³	EBI-727477, EBI-1181072 STRING (score=.96)
FGFR1	P11362¹, ENSP00000311337³	EBI-727477, EBI-1028277 STRING (score=.824)
inlA inlA (xeno)	P25146¹^,²	EBI-727477, EBI-1035388 MINT-24967

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007156	homophilic cell adhesion	NAS	8033105
GO:0042993	positive regulation of transcription factor import into nucleus	IDA	16338932

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CDH1
10/51 Novoseek chemical compound relationships for CDH1 gene (see all 51 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
matrigel	66.57	17	1793731 (2), 7881109 (1), 8040623 (1), 19055788 (1) (see all 12)
tyrosine	57.41	192	17087658 (5), 15662113 (4), 11710913 (4), 14675348 (4) (see all 99)
progesterone	44.49	64	15459769 (2), 15605082 (2), 7534041 (1), 10545751 (1) (see all 55)
tgf beta1	43.62	16	16253118 (2), 18552272 (2), 17786313 (2), 17525203 (2) (see all 10)
yessotoxin	37.64	21	18155346 (5), 17118960 (2), 18155345 (1), 12531207 (1)
pki-166	33.41	1	15205458 (1)
crcs	30.81	9	17516584 (3), 18503162 (3), 15720901 (2), 14601048 (1)
glycogen	29.76	10	14977820 (1), 16426922 (1), 17483337 (1), 19369517 (1) (see all 9)
phosphatidylinositol	27.55	12	11744701 (2), 18089563 (1), 14699157 (1), 18065418 (1) (see all 9)
amex	25.76	2	10875196 (2)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CDH1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CDH1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004360

Sigma-Aldrich siRNA and siRNA Panels for CDH1

Sigma-Aldrich shRNA Panels and shRNA for CDH1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_004360

REFSEQ mRNAs for CDH1 gene:

NM_004360.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_004360

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004360
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004360
                                 untagged cDNA clone in CMV expression vector: NM_004360

Additional cDNA sequence:

AB025105.1 AB025106.1 AK290012.1 AK297913.1 AK309703.1 AK311198.1 AK312551.1 BC013851.1

BC141838.1 BC144283.1 BC146662.1 EU709494.1 L08599.1 X12790.1 X52279.1 Z13009.1

Z18923.1

14 DOTS entries:

DT.218339 DT.86847981 DT.91769179 DT.40226053 DT.91769199 DT.120670403 DT.100778483 DT.100801895

DT.91769192 DT.91769203 DT.91970482 DT.95253807 DT.95321029 DT.120670391

24/391 AceView cDNA sequences (see all 391 ):

BE697512 AA370668 AI052135 BM818941 BE504438 BM825650 AW517069 CA489622

AI864888 AI146368 BM831123 AA603448 BM769814 AI459018 BI061555 N30761

T11384 Z13009 BU687652 BM773318 X12790 AA341079 AA345529 AV651220

highest scoring ESTs for CDH1:

L08599 AA341079 AA345529 AA366223 AA370507 AA370668 AA377206 AA470621 AA503215 AA534770

Unigene Cluster for CDH1:

Cadherin 1, type 1, E-cadherin (epithelial)

Hs.461086 [show with all ESTs]

Unigene Representative Sequence: NM_004360

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CDH1

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16a	·	16b	^	17a	·	17b
SP1:							-																-								-
SP2:							-																								-
SP3:							-														-		-								-
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for CDH1

3 Ensembl transcripts including schematic representations:

ENST00000268794 ENST00000261769 ENST00000379120

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CDH1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CDH1

¹ / ² / ³

6 probe-sets matching CDH1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
2082_s_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.85	L08599	1.00	0.90	0.95	1
977_s_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.18	Z35402	0.20	1.00	0.72	1
201131_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004360	0.60	1.00	0.82	1
201130_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	L08599	1.00	0.90	0.95	1
201131_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201130_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CDH1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGTGGGTGCT

SOURCE GeneReport for Unigene cluster: Hs.461086
Expression variation in blood from EXPOLDB for CDH1
UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
Tissue specificity: Non-neural epithelial tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CDH1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CDH1¹	--	cadherin 1, type 1, E-cadherin (epithelial)	84.27(n) 83.28(a)	442858 XM_536807.2 XP_536807.2
chimpanzee (Pan troglodytes)	CDH1¹	--	cadherin 1, type 1, E-cadherin (epithelial)	99.28(n) 99.66(a)	468009 XM_001168150.1 XP_001168150.1
cow (Bos taurus)	CDH1¹	--	cadherin 1, type 1, E-cadherin (epithelial)	83.14(n) 82.2(a)	282637 NM_001002763.1 NP_001002763.1
rat (Rattus norvegicus)	Cdh1¹	--	cadherin 1	80.12(n) 81.29(a)	83502 NM_031334.1 NP_112624.1
mouse (Mus musculus)	Cdh1^{1, 5}	8 (53.30 cM)⁵	cadherin 1^{1, 5}	79.67(n)¹ 81.41(a)¹	12550¹ NM_009864.2¹ NP_033994.1¹ AA960649⁵ AI323704⁵ (see all 30)

About this table Species with no ortholog for CDH1

ENSEMBL Gene Tree for CDH1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CDH1 gene

CDH3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/858 NCBI SNPs in CDH1 are shown (see all 858 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 262)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs16260^1,2	C,F,H,O	67328535(+)	`GGTCAC/ACGCGT`	1	--	ng5¹		16	NA MN EU EA WA NS CSAM	1398
	rs8045438^1,2	C,F,H	67426950(+)	`TTGTCG/AAATTT`	1	--	ng3¹		9	EU EA WA MN CSAM	822
	rs17690554^1,2	C,F,H	67427011(+)	`ATGGCC/GTCAGT`	1	--	ng3¹		21	NA NS MN CSAM EA EU WA	1422
--	rs13335980^1,2	A,C,F	67327691(+)	`tttttA/Taaaaa`	1	--	ng5¹		10	NS MN CSAM EA	574
--	rs7194355^1,2	A,C,F	67327789(+)	`agttcC/Aagacc`	1	--	ng5¹		10	NS MN CSAM EA	578
	rs13339481^1,2	C,F,H	67426738(+)	`CTTTTT/CGGAAT`	1	--	ut3¹		14	EU EA WA NS MN CSAM	990
--	rs8049282^1,2	A,C,F	67425492(+)	`agtagC/Ttggga`	1	--	ut3¹		10	NS MN CSAM EA	582
	rs13689^1,2	C,F,H	67426023(+)	`AAGTTA/C/G/T GTGTC`	1	--	ut3¹ ese³		25	MN CSAM EA NA EU WA NS	2186
	rs2276331^1,2	C,F,H	67413581(-)	`TGTTAG/CTTCTG`	1	V/L	mis¹		14	EA MN CSAM EU WA	2724
	rs33956133^1,2	C,F	67425313(+)	`TTTTTA/TAAAAA`	1	--	ut3¹		10	NS MN CSAM EA	590

About this table

HapMap Linkage Disequilibrium images for CDH1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 192090

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830

Defects in CDH1 are involved in dysfunction of the cell-cell adhesion system, triggering

cancer invasion (gastric, breast, ovary, endometrium and thyroid) and metastasis

Defects in CDH1 are a cause of gastric cancer [MIM:137215]; also known as hereditary

familial diffuse gastric cancer (HDGC)

Defects in CDH1 are a cause of susceptibility to endometrial cancer [MIM:608089]

Defects in CDH1 are associated with ovarian cancer [MIM:167000]. Ovarian cancer is the

leading cause of death from gynecologic malignancy. It is characterized by advanced presentation

with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral

metastases. These typical features relate to the biology of the disease, which is a principal

determinant of outcome

10/97 Novoseek disease relationships for CDH1 gene (see all 97 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
metastasis	84.32	943	14580257 (8), 17649807 (7), 16033070 (7), 12508543 (6) (see all 99)
carcinoma lobular	82.47	132	9496256 (7), 8256859 (4), 12478484 (3), 10433926 (3) (see all 66)
tumors	81.15	1675	12712492 (8), 12760799 (6), 9306561 (5), 11408802 (5) (see all 99)
carcinoma	80.90	590	17649807 (6), 18062285 (5), 17660978 (5), 16033070 (5) (see all 99)
gastric cancer	79.45	510	10072428 (7), 12908778 (7), 17991318 (6), 15288293 (5) (see all 99)
cancer	76.64	595	8507565 (4), 10424737 (4), 15674322 (4), 10994623 (4) (see all 99)
gastric carcinoma	76.16	233	11313896 (7), 18250063 (6), 15128072 (6), 10408833 (5) (see all 98)
carcinoma squamous cell	71.57	252	9301546 (5), 16399195 (5), 8365008 (3), 15899218 (3) (see all 99)
carcinoma ductal	71.49	81	7534041 (3), 12478484 (3), 17649807 (2), 12168049 (2) (see all 56)
breast carcinoma	70.13	125	12508543 (4), 15693887 (4), 15742334 (4), 12163387 (3) (see all 81)

About this table

GeneTests: CDH1

Hereditary Diffuse Gastric Cancer

Human Gene Mutation Database: CDH1
Genetic Association Database: CDH1
Human Genome Epidemiology Navigator: CDH1 (72 documents)

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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/2825 PubMed articles for CDH1 gene (see all 2825 ):

Association of E-cadherin germ-line alterations with prostate cancer. (PubMed id 11705864)^{1, 3, 4, 6} Ikonen T.... Koivisto P.A. (2001)
Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. (PubMed id 11948460)^{1, 3, 6} Jonsson B.A....Gronberg H. (2002)
Calcium influx triggers the sequential proteolysis of extracellular and cytoplasmic domains of E-cadherin, leading to loss of beta-catenin from cell-cell contacts. (PubMed id 10597309)^{1, 3, 4} Ito K.... Saya H. (1999)
[Association of -160(C-->A) polymorphism in CDH1 gene with gastric cancer risk in Fujian Chinese population] (PubMed id 16215948)^{1, 3, 6} Song C.G....Huang W. (2005)
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. (PubMed id 11896626)^{1, 3, 6} Porter T.R....Maher E.R. (2002)
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. (PubMed id 11968083)^{1, 3, 4} Oliveira C....Caldas C. (2002)
A germline E-cadherin mutation in a family with gastric and colon cancer. (PubMed id 11562785)^{1, 3, 4} Salahshor S.... Lindblom A. (2001)
The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. (PubMed id 10896919)^{1, 3, 4} Kim H.C.... Bodmer W.F. (2000)
E-cadherin germline mutations in familial gastric cancer. (PubMed id 9537325)^{1, 3, 4} Guilford P.J.... Reeve A.E. (1998)
Mutations of the human E-cadherin (CDH1) gene. (PubMed id 9744472)^{1, 3, 4} Berx G.... van Roy F. (1998)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 999	HGNC: 1748	AceView: CDH1	Ensembl:ENSG00000039068	euGenes: HUgn999
ECgene: CDH1	H-InvDB: CDH1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for CDH1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=CDH1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cdh1/

Licensable Technologies for CDH1
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CDH1:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CDH1-related products

	Millipore Custom Antibody & Bulk Services
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Antibodies for CDH1

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CDH1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for CDH1

Summaries
for CDH1

Genomic Location
for CDH1

Proteins
for CDH1

Protein Domains/
Families
for CDH1

Gene Function
for CDH1

Pathways & Interactions
for CDH1

Drugs & Compounds
for CDH1

Transcripts
for CDH1

Expression
for CDH1

Orthologs
for CDH1

Paralogs
for CDH1

SNPs/Variants
for CDH1

Disorders & Mutations
for CDH1

Medical News
for CDH1

Publications
for CDH1

Search for CDH1

Genome Databases showing CDH1

Other Databases showing CDH1

Specialized Databases showing CDH1

Licensable Technologies
for CDH1

Services
for CDH1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CDH1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor CDH1

Summariesfor CDH1

Genomic Locationfor CDH1

Proteinsfor CDH1

Protein Domains/Familiesfor CDH1

Gene Functionfor CDH1

Pathways & Interactionsfor CDH1

Drugs & Compoundsfor CDH1

Transcriptsfor CDH1

Expression for CDH1

Orthologsfor CDH1

Paralogsfor CDH1

SNPs/Variantsfor CDH1

Disorders & Mutationsfor CDH1

Medical Newsfor CDH1

Publicationsfor CDH1

Search for CDH1

Genome Databases showing CDH1

Other Databases showing CDH1

Specialized Databases showing CDH1

Licensable Technologiesfor CDH1

Servicesfor CDH1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CDH1

Summaries
for CDH1

Genomic Location
for CDH1

Proteins
for CDH1

Protein Domains/
Families
for CDH1

Gene Function
for CDH1

Pathways & Interactions
for CDH1

Drugs & Compounds
for CDH1

Transcripts
for CDH1

Expression
for CDH1

Orthologs
for CDH1

Paralogs
for CDH1

SNPs/Variants
for CDH1

Disorders & Mutations
for CDH1

Medical News
for CDH1

Publications
for CDH1

Licensable Technologies
for CDH1

Services
for CDH1