Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	CTSH
Previous Symbol	CPSB
Symbol Alias	ACC-4, ACC-5, ACC4, ACC5
Approved Name	cathepsin H
Location	15q25.1
Position	chr15:78921058-78949574, -1
External Links	HGNC: 2535 Entrez Gene: 1512 Ensembl: ENSG00000103811 UCSC: uc021srk.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2011	SNP: rs16970287, rs2289700	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 46)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005764	lysosome	cellular component	IDA[15196205]	16
GO:0004197	cysteine-type endopeptidase activity	molecular function	IDA[6203523]; TAS[2849458]	3

GO terms by database search (count: 44)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEA	7
GO:0045766	positive regulation of angiogenesis	biological process	ISS	11
GO:0070324	thyroid hormone binding	molecular function	IDA[21217776]	2
GO:0005615	extracellular space	cellular component	IDA[16502470]	85
GO:0010628	positive regulation of gene expression	biological process	IDA[21217776]	23
GO:0002764	immune response-regulating signaling pathway	biological process	IDA[16822283]	1
GO:0001520	outer dense fiber	cellular component	IEA	1
GO:0005515	protein binding	molecular function	IPI[15127951]	563
GO:0010952	positive regulation of peptidase activity	biological process	IDA[20435891]	1
GO:0043066	negative regulation of apoptotic process	biological process	ISS	46
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0008284	positive regulation of cell proliferation	biological process	ISS	44
GO:0010634	positive regulation of epithelial cell migration	biological process	ISS	5
GO:0033619	membrane protein proteolysis	biological process	IDA[14766755]	1
GO:0031638	zymogen activation	biological process	IDA[20435891]	1
GO:0097208	alveolar lamellar body	cellular component	IDA[18216060]	1
GO:0002250	adaptive immune response	biological process	IEP[15196205]	5
GO:2001235	positive regulation of apoptotic signaling pathway	biological process	IEA	2
GO:0060448	dichotomous subdivision of terminal units involved in lung branching	biological process	ISS	1
GO:0032526	response to retinoic acid	biological process	ISS	5
GO:0001913	T cell mediated cytotoxicity	biological process	ISS	1
GO:0031648	protein destabilization	biological process	IMP[17500053]	5
GO:0004175	endopeptidase activity	molecular function	IDA[14766755]	8
GO:0008233	peptidase activity	molecular function	IDA[18216060]	4
GO:0030984	kininogen binding	molecular function	IEA	1
GO:0008234	cysteine-type peptidase activity	molecular function	IDA[8811434]	1
GO:0005829	cytosol	cellular component	IDA[9050938]	223
GO:0030335	positive regulation of cell migration	biological process	IDA[21217776]	16
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	molecular function	IDA[20435891]	2
GO:0019882	antigen processing and presentation	biological process	TAS[15196205]	2
GO:0001656	metanephros development	biological process	ISS	8
GO:0010813	neuropeptide catabolic process	biological process	IDA[15127951]	1
GO:0004252	serine-type endopeptidase activity	molecular function	ISS	9
GO:0001669	acrosomal vesicle	cellular component	IEA	3
GO:0004177	aminopeptidase activity	molecular function	IDA[15127951]	3
GO:0070371	ERK1 and ERK2 cascade	biological process	IDA[21217776]	3
GO:0006508	proteolysis	biological process	IDA[6203523]; TAS[2849458]	34
GO:0030108	HLA-A specific activating MHC class I receptor activity	molecular function	IDA[16822283]	1
GO:0032403	protein complex binding	molecular function	IEA	16
GO:0043621	protein self-association	molecular function	IEA	4
GO:0097067	cellular response to thyroid hormone stimulus	biological process	IEP[21217776]	1
GO:0010815	bradykinin catabolic process	biological process	IDA[15127951]	1
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0043129	surfactant homeostasis	biological process	IDA[18216060]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CTSH	CSTB	NO	in vitro;in vivo	11514663
CTSH	CSTA	NO	in vitro	12581647
CTSH	BGLAP	NO	in vivo	9076588
CTSH	SFTPB	NO	in vitro	14766755

Related other genetic factors

Gene related SNPs (count: 5)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2289700	chr15:78932341 - 78932341(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs16970287	chr15:78935915 - 78935915(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs2289697	chr15:78929565 - 78929565(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs8034542	chr15:78936029 - 78936029(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2289695	chr15:78925289 - 78925289(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
15q25-26	chr15:78000000-101991189	1 (1/0/0)
15q24.1-25.2	chr15:72400000-84700000	1 (0/1/0)
Chr 15	chr15:0-101991189	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr15:78921058..78949574 View in gBrowse