• Gene id: 56131

Gene Summary

• Gene Symbol: PCDHB4   Gene   UCSC   Ensembl
• Aliases: PCDH-BETA4
• Gene name: protocadherin beta 4
• Alternate names: protocadherin beta-4,
• Gene location: 5q31.3 (141121817: 141125622)     Exons: 1     NC_000005.10
• Gene summary(Entrez): This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters.
• OMIM: 606330

Protein Summary

• Protein general information: Q9Y5E5  
  • Name: Protocadherin beta 4 (PCDH beta 4)
  • Length: 795  
  • Mass: 87270
• Sequence:

  MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSARVLSDDDKQRLQ
  LDRQTGDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGELLIQDINDHSPIFPEREVLLKILENSQPGTL
  FPLLIAEDLDVGSNGLQKYTISPNSHFHILTRNHSEGKKYPDLVQDKPLDREEQPEFSLTLVALDGGSPPRSGTV
  MVRILIMDINDNAPEFVHTPYGVQVLENSPLDSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEI
  LLKKKLDFEKIKSYHVEIEATDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSG
  ENGKMICSIPDNLPFILKPTLKNFYTLVTERPLDRETSAEYNITIAVTDLGTPRLKTQQNITVQVSDVNDNAPAF
  TQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINADNGHLFALRSLDYEALQA
  FEFRVGASDRGSPALSSEALVRVLVLDTNDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAW
  LSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLVVLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEA
  APAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQY
  EVCLTGDSGTGEFKFLKPIFPNLLVQDTGREVKENPKFRNSLVFS

• Structural information:
  • Protein Domains: (34..13-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (137..24-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (246..34-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR032455  IPR020894  IPR013164   IPR030729  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000194152
• Other Databases: GeneCards:  PCDHB4  Malacards:  PCDHB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
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:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0016339	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007416	synapse assembly	TAS	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R