• Gene id: 56128

Gene Summary

• Gene Symbol: PCDHB8   Gene   UCSC   Ensembl
• Aliases: PCDH-BETA8, PCDH3I
• Gene name: protocadherin beta 8
• Alternate names: protocadherin beta-8, protocadherin-3i,
• Gene location: 5q31.3 (141177789: 141180538)     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: 606334

Protein Summary

• Protein general information: Q9UN66  
  • Name: Protocadherin beta 8 (PCDH beta 8) (Protocadherin 3I)
  • Length: 801  
  • Mass: 87591
• Sequence:

  MEASGKLICRQRQVLFSFLLLGLSLAGAAEPRSYSVVEETEGSSFVTNLAKDLGLEQREFSRRGVRVVSRGNKLH
  LQLNQETADLLLNEKLDREDLCGHTEPCVLRFQVLLESPFEFFQAELQVIDINDHSPVFLDKQMLVKVSESSPPG
  TAFPLKNAEDLDIGQNNIENYIISPNSYFRVLTRKRSDGRKYPELVLDKALDREEEAELRLTLTALDGGSPPRSG
  TAQVYIEVVDVNDNAPEFEQPFYRVQISEDSPISFLVVKVSATDVDTGVNGEISYSLFQASDEISKTFKVDFLTG
  EIRLKKQLDFEKFQSYEVNIEARDAGGFSGKCTVLIQVIDVNDHAPEVTMSAFTSPIPENAPETVVALFSVSDLD
  SGENGKISCSIQEDLPFLLKSSVGNFYTLLTETPLDRESRAEYNVTITVTDLGTPRLTTHLNMTVLVSDVNDNAP
  AFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINTDNGHLFALRSLDYEAL
  QAFEFRVGASDRGSPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQN
  AWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKQRLVVLVKDNGEPPCSATATLHVLLVDGFSQPYLPLP
  EAAPAQGQADSLTVYLVVALASVSSLFLFSVLLFVAVLLCRRSRAASVGRCSVPEGPFPGHLVDVRGTGSLSQNY
  QYEVCLAGGSGTNEFQLLKPVLPNIQGHSFGPEMEQNSNFRNGFGFSLQLK

• Structural information:
  • Protein Domains: (36..13-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (139..24-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (248..34-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR032455  IPR020894  IPR013164  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000239444
• Other Databases: GeneCards:  PCDHB8  Malacards:  PCDHB8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0042802	identical protein binding	ISS	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)