• Gene id: 28513

Gene Summary

• Gene Symbol: CDH19   Gene   UCSC   Ensembl
• Aliases: CDH7, CDH7L2
• Gene name: cadherin 19
• Alternate names: cadherin-19, cadherin 19, type 2,
• Gene location: 18q22.1 (66604240: 66501082)     Exons: 14     NC_000018.10
• Gene summary(Entrez): This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated
• OMIM: 603016

Protein Summary

• Protein general information: Q9H159  
  • Name: Cadherin 19
  • Length: 772  
  • Mass: 87002
  • Tissue specificity: Expressed in many tissues, with the exception of uterus.
• Sequence:

  MNCYLLLRFMLGIPLLWPCLGATENSQTKKVKQPVRSHLRVKRGWVWNQFFVPEEMNTTSHHIGQLRSDLDNGNN
  SFQYKLLGAGAGSTFIIDERTGDIYAIQKLDREERSLYILRAQVIDIATGRAVEPESEFVIKVSDINDNEPKFLD
  EPYEAIVPEMSPEGTLVIQVTASDADDPSSGNNARLLYSLLQGQPYFSVEPTTGVIRISSKMDRELQDEYWVIIQ
  AKDMIGQPGALSGTTSVLIKLSDVNDNKPIFKESLYRLTVSESAPTGTSIGTIMAYDNDIGENAEMDYSIEEDDS
  QTFDIITNHETQEGIVILKKKVDFEHQNHYGIRAKVKNHHVPEQLMKYHTEASTTFIKIQVEDVDEPPLFLLPYY
  VFEVFEETPQGSFVGVVSATDPDNRKSPIRYSITRSKVFNINDNGTITTSNSLDREISAWYNLSITATEKYNIEQ
  ISSIPLYVQVLNINDHAPEFSQYYETYVCENAGSGQVIQTISAVDRDESIEEHHFYFNLSVEDTNNSSFTIIDNQ
  DNTAVILTNRTGFNLQEEPVFYISILIADNGIPSLTSTNTLTIHVCDCGDSGSTQTCQYQELVLSMGFKTEVIIA
  ILICIMIIFGFIFLTLGLKQRRKQILFPEKSEDFRENIFQYDDEGGGEEDTEAFDIAELRSSTIMRERKTRKTTS
  AEIRSLYRQSLQVGPDSAIFRKFILEKLEEANTDPCAPPFDSLQTYAFEGTGSLAGSLSSLESAVSDQDESYDYL
  NELGPRFKRLACMFGSAVQSNN

• Structural information:
  • Protein Domains: (44..14-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (149..25-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (257..37-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR039808  IPR002126  IPR015919  IPR020894  IPR000233   IPR027397  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000262150
• Other Databases: GeneCards:  CDH19  Malacards:  CDH19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045296	cadherin binding	IBA	molecular function
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
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:0007043	cell-cell junction assembly	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: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:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq