• Gene id: 1002

Gene Summary

• Gene Symbol: CDH4   Gene   UCSC   Ensembl
• Aliases: CAD4, R-CAD, RCAD
• Gene name: cadherin 4
• Alternate names: cadherin-4, R-cadherin, cadherin 4, type 1, R-cadherin (retinal), cadherin 4, type 1, preproprotein, retinal cadherin,
• Gene location: 20q13.33 (61252260: 61940616)     Exons: 18     NC_000020.11
• Gene summary(Entrez): 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

SNPs

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

Protein Summary

• Protein general information: P55283  
  • Name: Cadherin 4 (Retinal cadherin) (R CAD) (R cadherin)
  • Length: 916  
  • Mass: 100281
  • Tissue specificity: Expressed mainly in brain but also found in other tissues.
• Sequence:

  MTAGAGVLLLLLSLSGALRAHNEDLTTRETCKAGFSEDDYTALISQNILEGEKLLQVKFSSCVGTKGTQYETNSM
  DFKVGADGTVFATRELQVPSEQVAFTVTAWDSQTAEKWDAVVRLLVAQTSSPHSGHKPQKGKKVVALDPSPPPKD
  TLLPWPQHQNANGLRRRKRDWVIPPINVPENSRGPFPQQLVRIRSDKDNDIPIRYSITGVGADQPPMEVFSIDSM
  SGRMYVTRPMDREEHASYHLRAHAVDMNGNKVENPIDLYIYVIDMNDNRPEFINQVYNGSVDEGSKPGTYVMTVT
  ANDADDSTTANGMVRYRIVTQTPQSPSQNMFTINSETGDIVTVAAGLDREKVQQYTVIVQATDMEGNLNYGLSNT
  ATAIITVTDVNDNPPEFTASTFAGEVPENRVETVVANLTVMDRDQPHSPNWNAVYRIISGDPSGHFSVRTDPVTN
  EGMVTVVKAVDYELNRAFMLTVMVSNQAPLASGIQMSFQSTAGVTISIMDINEAPYFPSNHKLIRLEEGVPPGTV
  LTTFSAVDPDRFMQQAVRYSKLSDPASWLHINATNGQITTAAVLDRESLYTKNNVYEATFLAADNGIPPASGTGT
  LQIYLIDINDNAPELLPKEAQICEKPNLNAINITAADADVDPNIGPYVFELPFVPAAVRKNWTITRLNGDYAQLS
  LRILYLEAGMYDVPIIVTDSGNPPLSNTSIIKVKVCPCDDNGDCTTIGAVAAAGLGTGAIVAILICILILLTMVL
  LFVMWMKRREKERHTKQLLIDPEDDVRDNILKYDEEGGGEEDQDYDLSQLQQPEAMGHVPSKAPGVRRVDERPVG
  AEPQYPIRPMVPHPGDIGDFINEGLRAADNDPTAPPYDSLLVFDYEGSGSTAGSVSSLNSSSSGDQDYDYLNDWG
  PRFKKLADMYGGGEED

• Structural information:
  • Protein Domains: (170..27-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (278..39-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (393..50-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule-)
  • Interpro: IPR039808  IPR002126  IPR015919  IPR020894  IPR000233   IPR014868  IPR027397  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000484928
• Other Databases: GeneCards:  CDH4  Malacards:  CDH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007043	cell-cell junction assembly	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0016342	catenin complex	IBA	cellular component
GO:0000902	cell morphogenesis	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0034332	adherens junction organization	IBA	biological process
GO:0044331	cell-cell adhesion mediated by cadherin	IBA	biological process
GO:0045296	cadherin binding	IBA	molecular function
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034332	adherens junction organization	TAS	biological process
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R