Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1002
Gene name	Cadherin 4
Gene symbol	CDH4
Synonyms (NCBI Gene)	CAD4R-CADRCAD
Chromosome	20
Chromosome location	20q13.33
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. B

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SNP ID	Visualize variation	Clinical significance	Consequence
rs765815715	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023656	hsa-miR-1-3p	Microarray	18668037
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659651	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659651	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659651	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659651	hsa-miR-570-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT624382	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624381	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624380	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624379	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624378	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT624377	hsa-miR-623	HITS-CLIP	23824327
MIRT624376	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624375	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624374	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT1921550	hsa-miR-520f	CLIP-seq
MIRT1921551	hsa-miR-548ac	CLIP-seq
MIRT1921552	hsa-miR-548ae	CLIP-seq
MIRT1921553	hsa-miR-548aj	CLIP-seq
MIRT1921554	hsa-miR-548am	CLIP-seq
MIRT1921555	hsa-miR-548d-3p	CLIP-seq
MIRT1921556	hsa-miR-548x	CLIP-seq
MIRT1921557	hsa-miR-548z	CLIP-seq
MIRT2500679	hsa-miR-148a	CLIP-seq
MIRT2500680	hsa-miR-148b	CLIP-seq
MIRT2500681	hsa-miR-152	CLIP-seq
MIRT2500682	hsa-miR-205	CLIP-seq
MIRT2500683	hsa-miR-4276	CLIP-seq
MIRT2500684	hsa-miR-515-3p	CLIP-seq
MIRT2500685	hsa-miR-519e	CLIP-seq
MIRT2500686	hsa-miR-626	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0007043	Process	Cell-cell junction assembly	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2059658
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0034332	Process	Adherens junction organization	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045296	Function	Cadherin binding	IBA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048675	Process	Axon extension	IEA
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
603006	1763	ENSG00000179242

P55283

Protein name

Cadherin-4 (Retinal cadherin) (R-CAD) (R-cadherin)

Protein 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. May play an important role

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08758	Cadherin_pro	30 → 120	Cadherin prodomain like	Domain
PF00028	Cadherin	174 → 268	Cadherin domain	Domain
PF00028	Cadherin	282 → 383	Cadherin domain	Domain
PF00028	Cadherin	397 → 499	Cadherin domain	Domain
PF00028	Cadherin	512 → 606	Cadherin domain	Domain
PF01049	Cadherin_C	760 → 913	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in brain but also found in other tissues.

Sequence

MTAGAGVLLLLLSLSGALRAHNEDLTTRETCKAGFSEDDYTALISQNILEGEKLLQVKFS
SCVGTKGTQYETNSMDFKVGADGTVFATRELQVPSEQVAFTVTAWDSQTAEKWDAVVRLL
VAQTSSPHSGHKPQKGKKVVALDPSPPPKDTLLPWPQHQNANGLRRRKRDWVIPPINVPE
NSRGPFPQQLVRIRSDKDNDIPIRYSITGVGADQPPMEVFSIDSMSGRMYVTRPMDREEH
ASYHLRAHAVDMNGNKVENPIDLYIYVIDMNDNRPEFINQVYNGSVDEGSKPGTYVMTVT
ANDADDSTTANGMVRYRIVTQTPQSPSQNMFTINSETGDIVTVAAGLDREKVQQYTVIVQ
ATDMEGNLNYGLSNTATAIITVTDVNDNPPEFTASTFAGEVPENRVETVVANLTVMDRDQ
PHSPNWNAVYRIISGDPSGHFSVRTDPVTNEGMVTVVKAVDYELNRAFMLTVMVSNQAPL
ASGIQMSFQSTAGVTISIMDINEAPYFPSNHKLIRLEEGVPPGTVLTTFSAVDPDRFMQQ
AVRYSKLSDPASWLHINATNGQITTAAVLDRESLYTKNNVYEATFLAADNGIPPASGTGT
LQIYLIDINDNAPELLPKEAQICEKPNLNAINITAADADVDPNIGPYVFELPFVPAAVRK
NWTITRLNGDYAQLSLRILYLEAGMYDVPIIVTDSGNPPLSNTSIIKVKVCPCDDNGDCT
TIGAVAAAGLGTGAIVAILICILILLTMVLLFVMWMKRREKERHTKQLLIDPEDDVRDNI
LKYDEEGGGEEDQDYDLSQLQQPEAMGHVPSKAPGVRRVDERPVGAEPQYPIRPMVPHPG
DIGDFINEGLRAADNDPTAPPYDSLLVFDYEGSGSTAGSVSSLNSSSSGDQDYDYLNDWG
PRFKKLADMYGGGEED

Sequence length

916

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Adherens junctions interactions Myogenesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs765815715	RCV000454293

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CDH4-associated disorder of corticaldevelopment	Uncertain significance	rs2085614485	RCV002266777
CDH4-related disorder	Uncertain significance; Likely benign; Benign	rs747641695, rs373483932, rs2516905953, rs199603882, rs376844208, rs139822630, rs6142884, rs142995081, rs372808555, rs145794407, rs141026097, rs560532547, rs113714586, rs568480999, rs767997015 View all (5 more)	RCV003410727 RCV003419143 RCV003397565 RCV003907148 RCV003904261 RCV003904050 RCV003977296 RCV003984477 RCV003933823 RCV003933944 RCV003931474 RCV003931795 RCV003924737 RCV003947201 RCV003946809 RCV003934636 RCV003982007 RCV003971824 RCV003961960 RCV003962212
Cervical cancer	Benign	rs142995081	RCV005937286
Clear cell carcinoma of kidney	Benign	rs142995081	RCV005937287
Hepatocellular carcinoma	Benign	rs142995081	RCV005937283
Lung cancer	Benign	rs142995081	RCV005937291
Malignant tumor of esophagus	Benign	rs142995081	RCV005937284
Melanoma	Benign	rs142995081	RCV005937290
Neurodevelopmental disorder	Uncertain significance	rs951281332	RCV001837260
Nonpapillary renal cell carcinoma	Benign	rs142995081	RCV005937285
Simplified gyral pattern	Uncertain significance	rs139577432, rs373341715	RCV000656098 RCV000656099
Thyroid cancer, nonmedullary, 1	Benign	rs142995081	RCV005937289
Uveal melanoma	Benign	rs142995081	RCV005937288

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	32329852
Adenocarcinoma of Lung	Associate	35242247
Breast Neoplasms	Associate	33899544
Bronchopulmonary Dysplasia	Inhibit	39988826
Carcinoma Acinar Cell	Associate	34629449
Carcinoma Renal Cell	Associate	32511216
Cleft Palate	Associate	35191549
Colorectal Neoplasms	Associate	24980446
Darier Disease	Associate	37496039
Drug Related Side Effects and Adverse Reactions	Associate	27749787
Endometrial Neoplasms	Associate	32473611
Lung Neoplasms	Inhibit	28095912
Lymphatic Metastasis	Inhibit	27029387
Mouth Diseases	Associate	32473611
Multiple System Atrophy	Associate	38143373
Neoplasm Metastasis	Associate	32511216
Neoplasms	Associate	15143071, 23349834, 27029387, 28095912, 32473611, 32511216
Otofaciocervical Syndrome	Associate	35191549
Pancreatic Neoplasms	Associate	27749787
Stomach Neoplasms	Associate	27029387
Stroke	Associate	17903297
Tertiary Lymphoid Structures	Associate	32511216

CDH4 (cadherin 4)