Gene Report

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Basic Info

Approved Symbol	PCDH15
Previous Symbol	USH1F, DFNB23
Symbol Alias	CDHR15
Approved Name	protocadherin-related 15
Previous Name	deafness, autosomal recessive 23, "protocadherin 15"
Name Alias	cadherin-related family member 15
Location	10q21.1
Position	chr10:53802771-55627942, -1
External Links	HGNC: 14674 Entrez Gene: 65217 Ensembl: ENSG00000150275 UCSC: uc010qhy.1
No. of Studies	4 (Positive: 2; Negative: 1; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 4)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study
Hattori, E.,2009	SNP: rs1059016, rs1414686	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study
Djurovic, S.,2010	SNP: rs7081438, rs7100273, rs825795	No significant association of this gene was observed in BD.	Negative	Comment on Study
Georgieva, L., 2014		The loci in this gene impacted by de novo CNVs have been previously implicated in neuropsychiatric disorders, which enhance their credibility as candidates for BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0045202	synapse	cellular component	IDA[11487575]	29
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0032420	stereocilium	cellular component	ISS[14570705]	2
GO:0007605	sensory perception of sound	biological process	IMP[11398101]	18
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	biological process	IEA	7
GO:0005615	extracellular space	cellular component	IDA[16369489]	85
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0045494	photoreceptor cell maintenance	biological process	IMP[11398101]	2
GO:0050953	sensory perception of light stimulus	biological process	IMP[11398101]	2
GO:0050957	equilibrioception	biological process	IMP[16679490]	1
GO:0001750	photoreceptor outer segment	cellular component	IDA[14570705]	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1414686	chr10:54651899 - 54651899(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs7100273	chr10:53650241 - 53650241(1)		1(0/1/0)
rs825795	chr10:53675180 - 53675180(1)		1(0/1/0)
rs7081438	chr10:53697475 - 53697475(1)		1(0/1/0)
rs1059016	chr5:115392107 - 115392107(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs10509016	chr10:54651634 - 54651634(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1414687	chr10:54652156 - 54652156(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12257633	chr10:54651220 - 54651220(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11004434	chr10:54653644 - 54653644(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11004433	chr10:54653299 - 54653299(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1414688	chr10:54652209 - 54652209(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type
CNV_Zhang[2009]_201	chr10:56148428-56359760 (Affymetrix SNP 6.0 array reference genome)	211332		Singleton deletions
CNV_Lyudmila Georgieva[2014]_6	chr10:56517409-56677171 (UCSC build 37, hg19)	159762	10q21.1	deletion
CNV_Abdul Noor[2014]_12	chr10:56465084-58506956 (NCBI Build 36/hg18)	2	10q21.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
10p11.21-q22.1	chr10:34200000-73100000	1 (1/0/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q11.21-q22.1	chr10:41600000-73100000	1 (0/0/1)
10q11-q21	chr10:39800000-68800000	1 (0/1/0)
10q21	chr10:51100000-68800000	4 (0/3/1)
10q21.1-2	chr10:51100000-62800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr10:53802771..55627942 View in gBrowse