Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1515
Gene name	Cathepsin V
Gene symbol	CTSV
Synonyms (NCBI Gene)	CATL2CTSL2CTSU
Chromosome	9
Chromosome location	9q22.33
Summary	The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gl

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miRTarBase ID	miRNA	Experiments	Reference
MIRT659271	hsa-miR-4517	HITS-CLIP	23824327
MIRT659270	hsa-miR-5583-3p	HITS-CLIP	23824327
MIRT659269	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT659268	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT659267	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT659266	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659265	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT659264	hsa-miR-4469	HITS-CLIP	23824327
MIRT659263	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT659262	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT659271	hsa-miR-4517	HITS-CLIP	23824327
MIRT659270	hsa-miR-5583-3p	HITS-CLIP	23824327
MIRT659269	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT659268	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT659267	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT659266	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659265	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT659264	hsa-miR-4469	HITS-CLIP	23824327
MIRT659263	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT659262	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT461426	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT461425	hsa-miR-302f	PAR-CLIP	21572407
MIRT461424	hsa-miR-3123	PAR-CLIP	21572407
MIRT552102	hsa-miR-3919	PAR-CLIP	21572407
MIRT461421	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT461419	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT461418	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT461416	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT461415	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT461414	hsa-miR-3612	PAR-CLIP	21572407
MIRT461413	hsa-miR-650	PAR-CLIP	21572407
MIRT461426	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT461425	hsa-miR-302f	PAR-CLIP	23592263
MIRT461424	hsa-miR-3123	PAR-CLIP	23592263
MIRT461423	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT461422	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT461421	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT461420	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT461419	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT461418	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT461417	hsa-miR-1827	PAR-CLIP	23592263
MIRT461416	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT461415	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT461414	hsa-miR-3612	PAR-CLIP	23592263
MIRT461413	hsa-miR-650	PAR-CLIP	23592263
MIRT741721	hsa-miR-4517	HITS-CLIP	23824327
MIRT741722	hsa-miR-5583-3p	HITS-CLIP	23824327
MIRT741723	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT741724	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT741725	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT741726	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT741727	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT741728	hsa-miR-4469	HITS-CLIP	23824327
MIRT741729	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT741730	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT741721	hsa-miR-4517	HITS-CLIP	23824327
MIRT741722	hsa-miR-5583-3p	HITS-CLIP	23824327
MIRT741723	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT741724	hsa-miR-3617-3p	HITS-CLIP	23824327
MIRT741725	hsa-miR-545-3p	HITS-CLIP	23824327
MIRT741726	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT741727	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT741728	hsa-miR-4469	HITS-CLIP	23824327
MIRT741729	hsa-miR-889-3p	HITS-CLIP	23824327
MIRT741730	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT754251	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT754252	hsa-miR-302f	PAR-CLIP	21572407
MIRT754253	hsa-miR-3123	PAR-CLIP	21572407
MIRT754254	hsa-miR-3919	PAR-CLIP	21572407
MIRT754255	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT754256	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT754257	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT754258	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT754259	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT754260	hsa-miR-3612	PAR-CLIP	21572407
MIRT754261	hsa-miR-650	PAR-CLIP	21572407
MIRT754251	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT754252	hsa-miR-302f	PAR-CLIP	23592263
MIRT754253	hsa-miR-3123	PAR-CLIP	23592263
MIRT755135	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT755136	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT754255	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT755137	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT754256	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT754257	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT755138	hsa-miR-1827	PAR-CLIP	23592263
MIRT754258	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT754259	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT754260	hsa-miR-3612	PAR-CLIP	23592263
MIRT754261	hsa-miR-650	PAR-CLIP	23592263

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Transcription factor	Regulation	Reference
E2F1	Unknown	23542171

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9563472
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	12809493, 15752368, 28514442, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IDA	15752368
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	TAS	9563472
GO:0016787	Function	Hydrolase activity	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0022617	Process	Extracellular matrix disassembly	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0051603	Process	Proteolysis involved in protein catabolic process	IBA

MIM	HGNC	e!Ensembl
603308	2538	ENSG00000136943

O60911

Protein name

Cathepsin L2 (EC 3.4.22.43) (Cathepsin U) (Cathepsin V)

Protein function

Cysteine protease. May have an important role in corneal physiology.

PDB

1FH0 , 3H6S , 3KFQ , 7PK4 , 7Q8D , 7Q8F , 7Q8G , 7Q8H , 7Q8I , 7Q8J , 7Q8K , 7Q8L , 7Q8M , 7Q8N , 7Q8O , 7Q8P , 7Q8Q , 7Q9H , 7QFF , 7QFH , 7QGW , 7QHJ , 7QHK , 7QNS , 7QO2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08246	Inhibitor_I29	29 → 88	Cathepsin propeptide inhibitor domain (I29)	Domain
PF00112	Peptidase_C1	114 → 333	Papain family cysteine protease	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the thymus and testis. Also expressed in corneal epithelium, and to a lesser extent in conjunctival epithelium and skin. {ECO:0000269|PubMed:10029531, ECO:0000269|PubMed:9563472, ECO:0000269|PubMed:9727401}.

Sequence

MNLSLVLAAFCLGIASAVPKFDQNLDTKWYQWKATHRRLYGANEEGWRRAVWEKNMKMIE
LHNGEYSQGKHGFTMAMNAFGDMTNEEFRQMMGCFRNQKFRKGKVFREPLFLDLPKSVDW
RKKGYVTPVKNQKQCGSCWAFSATGALEGQMFRKTGKLVSLSEQNLVDCSRPQGNQGCNG
GFMARAFQYVKENGGLDSEESYPYVAVDEICKYRPENSVANDTGFTVVAPGKEKALMKAV
ATVGPISVAMDAGHSSFQFYKSGIYFEPDCSSKNLDHGVLVVGYGFEGANSNNSKYWLVK
NSWGPEWGSNGYVKIAKDKNNHCGIATAASYPNV

Sequence length

334

Interactions

View interactions

	KEGG		Reactome
	Lysosome Apoptosis		Degradation of the extracellular matrix Activation of Matrix Metalloproteinases Trafficking and processing of endosomal TLR Assembly of collagen fibrils and other multimeric structures MHC class II antigen presentation RUNX1 regulates transcription of genes involved in differentiation of keratinocytes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	33788842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	23958260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	40615557	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17869649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23049944, 33298139, 33674187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	33335279	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	33335279	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32331211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	32899312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	33788842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22562303, 33788842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	31444238		★★★★★ ★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	23287360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	33788842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	19438477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17869649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	19438477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22452389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36601599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	27771373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28631302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	31444238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	15728537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22452389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	17869649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	LHGDN	17869649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22452389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	31444238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19438477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23287360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	27771373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23287360		★★★★★ ★☆☆☆☆ Found in Text Mining only

CTSV (cathepsin V)