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Gene id

27253

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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: 5 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. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

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)
Motifs	Cell attachment(186-188)
Interpro:	IPR002126 IPR015919 IPR020894 IPR013164 IPR030709
Prosite:	PS00232 PS50268
Pfam:	PF00028 PF08266
MINT:	2872192
STRING:	ENSP00000367151;

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 adhes ion molecules	IEA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030534	adult behavior	IEA	biological_process
GO:0050805	negative regulation of sy naptic transmission	IEA	biological_process
GO:1904071	presynaptic active zone a ssembly	IEA	biological_process
GO:2000807	regulation of synaptic ve sicle 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 adhes ion molecules	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030534	adult behavior	IEA	biological_process
GO:0050805	negative regulation of sy naptic transmission	IEA	biological_process
GO:1904071	presynaptic active zone a ssembly	IEA	biological_process
GO:2000807	regulation of synaptic ve sicle clustering	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function

Diseases

Associated diseases	References
Azoospermia	PMID: 20180417
Endometriosis	PMID: 18353903
Endometriosis	INFBASE18353903

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18353903	Endometrio sis			16 (10 patients with laparosco pically proven endometriosis ( minimal/mild n = 5 and moderat e/severe n = 5) , 6 controls)		PCDH17 PTPRR IL6ST	Show abstract