• Gene id: 27253

Gene Summary

• Gene Symbol: PCDH17   Gene   UCSC   Ensembl
• Aliases: PCDH68, PCH68
• Gene name: protocadherin 17
• Alternate names: protocadherin-17, protocadherin 68,
• Gene location: 13q21.1 (57630103: 57728930)     Exons: 6     NC_000013.11
• Gene summary(Entrez): This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. T
• OMIM: 611760

Protein Summary

• Protein general information: O14917  
  • Name: Protocadherin 17 (Protocadherin 68)
  • Length: 1159  
  • Mass: 126,229
• Sequence:

  MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYRVLENSAPHLL
  DVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFSSDQIEMDISENAAPGTR
  FPLTSAHDPDAGENGLRTYLLTRDDHGLFGLDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPPRSA
  TVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKT
  GLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVR
  VTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSP
  PLNSTKSFAIKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYV
  SVNPTNGAIYALRSFNFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRN
  AGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSA
  VAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHP
  QLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTV
  PQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADS
  DQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFV
  PTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCTST
  KGSLDGCEAKPGALAEASSQYLPTDSQYLSPSKQPRDPPFMASDQMARVFADVHSRASRDSSEMGAVLEQLDHPN
  RDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK

• Structural information:
  • Protein Domains: Cadherin (18-132)
    Cadherin (133-243)
    Cadherin (244-351)
    Cadherin (353-472)
  • Interpro: IPR002126  IPR015919  IPR020894  IPR013164  IPR030709  
  • Prosite: PS00232 PS50268
• Other Databases: GeneCards:  PCDH17  Malacards:  PCDH17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030534	adult behavior	IEA	biological process
GO:0050805	negative regulation of synaptic transmission	IEA	biological process
GO:1904071	presynaptic active zone assembly	IEA	biological process
GO:2000807	regulation of synaptic vesicle clustering	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030534	adult behavior	IEA	biological process
GO:0050805	negative regulation of synaptic transmission	IEA	biological process
GO:1904071	presynaptic active zone assembly	IEA	biological process
GO:2000807	regulation of synaptic vesicle clustering	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Endometriosis	INFBASE: 18353903
Female infertility	INFBASE: 18353903
Azoospermia	MIK: 20180417
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 20180417
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20180417	Azoospermia				Male infertility	CDH18 PCDH17
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881