Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	KLK8
Previous Symbol	PRSS19
Symbol Alias	HNP, TADG14, neuropsin, ovasin
Approved Name	kallikrein-related peptidase 8
Previous Name	kallikrein 8 (neuropsin/ovasin)
Location	19q13
Position	chr19:50996007-51002711, -1
External Links	HGNC: 6369 Entrez Gene: 11202 Ensembl: ENSG00000129455 UCSC: uc002pur.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Izumi, A., 2008	SNP: rs1612902, rs1701946, rs1701947, rs1722550, rs55909231	Genetic variation of the hNP gene may contribute to molecular mechanisms of bipolar disorder and some aspects of memory and intelligence.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

GO terms by PBA (count: 0)

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004252	serine-type endopeptidase activity	molecular function	IDA[16337200]	9
GO:0048812	neuron projection morphogenesis	biological process	ISS	7
GO:0048681	negative regulation of axon regeneration	biological process	ISS	1
GO:0005515	protein binding	molecular function	IPI[17761692]	563
GO:0050807	regulation of synapse organization	biological process	ISS	1
GO:0009611	response to wounding	biological process	ISS	9
GO:0031642	negative regulation of myelination	biological process	ISS	3
GO:0005737	cytoplasm	cellular component	IDA[17761692]	322
GO:0043616	keratinocyte proliferation	biological process	ISS	4
GO:0008219	cell death	biological process	ISS	5
GO:0007613	memory	biological process	ISS	22
GO:0005615	extracellular space	cellular component	ISS	85
GO:0006508	proteolysis	biological process	IEA	34
GO:0050808	synapse organization	biological process	IEA	3

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: 21)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1722550	chr19:51001825 - 51001825(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs55909231	chr19:51001974 - 51001974(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1701947	chr19:51000819 - 51000819(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1612902	chr19:50995939 - 50995939(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)
rs1701946	chr19:51000268 - 51000268(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs1722560	chr19:50997078 - 50997078(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2659071	chr19:50992051 - 50992051(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2659095	chr19:51002601 - 51002601(1)	3_prime_UTR_variant; 5_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2569456	chr19:51002469 - 51002469(1)	3_prime_UTR_variant; 5_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs1654543	chr19:50995733 - 50995733(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs6509509	chr19:51002115 - 51002115(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs1654539	chr19:50997645 - 50997645(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1654558	chr19:50992453 - 50992453(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1654542	chr19:50995860 - 50995860(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs906190	chr19:50994163 - 50994163(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1532901	chr19:50994873 - 50994873(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1701916	chr19:50994555 - 50994555(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1654559	chr19:50992430 - 50992430(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1701921	chr19:50992705 - 50992705(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2659096	chr19:51002892 - 51002892(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2075802	chr19:51003764 - 51003764(1)	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19q13	chr19:31900000-58617616	2 (0/2/0)
19q13.33-qter	chr19:47500000-58617616	1 (0/1/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
18354391	693	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
18354391	A significant allelic association was found between several SNPs and bipolar disorder. However, such an association was not detected for depression.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr19:50996007..51002711 View in gBrowse