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Aliases for CTSV Gene

Aliases for CTSV Gene

  • Cathepsin V 2 3 4 5
  • Cathepsin L2 2 3
  • Cathepsin U 3 4
  • CTSL2 3 4
  • CATL2 3 4
  • CTSU 3 4
  • Cathepsin L2, Preproprotein 3
  • EC 4

External Ids for CTSV Gene

Previous HGNC Symbols for CTSV Gene

  • CTSL2

Previous GeneCards Identifiers for CTSV Gene

  • GC09M099791

Summaries for CTSV Gene

Entrez Gene Summary for CTSV Gene

  • 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 gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]

GeneCards Summary for CTSV Gene

CTSV (Cathepsin V) is a Protein Coding gene. Among its related pathways are Collagen chain trimerization and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CTSL.

UniProtKB/Swiss-Prot for CTSV Gene

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

Gene Wiki entry for CTSV Gene

Additional gene information for CTSV Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSV Gene

Genomics for CTSV Gene

GeneHancer (GH) Regulatory Elements for CTSV Gene

Promoters and enhancers for CTSV Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J097038 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.3 333 1.6 ATF1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF143 ATF7 SP3 CTSV GAS2L1P2 MFSD14C
GH09J097012 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 +26.4 26443 2.4 ATF1 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 POLR2B GLIS2 ZNF213 E2F8 ZNF782 MFSD14C CTSV NCBP1 ENSG00000236896 AAED1 TDRD7 YRDCP2
GH09J096653 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.1 +385.0 384951 3 ATF1 FOXA2 ARNT SIN3A GTF3C2 ZNF766 GLIS2 ZNF207 SP3 REST AAED1 NCBP1 ERCC6L2 ZNF322P1 ZNF510 LOC441454 CDC14B LINC00476 MFSD14C CCDC180
GH09J097087 Enhancer 0.4 ENCODE 11.8 -48.9 -48905 2.4 PKNOX1 HLF HMBOX1 CTSV VN1R51P GAS2L1P2
GH09J096996 Enhancer 0.4 dbSUPER 11.5 +42.5 42508 1.7 ZNF121 ZBTB33 CTSV ZNF782 MFSD14C YRDCP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSV on UCSC Golden Path with GeneCards custom track

Genomic Locations for CTSV Gene

Genomic Locations for CTSV Gene
9,967 bases
Minus strand
9,967 bases
Minus strand

Genomic View for CTSV Gene

Genes around CTSV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSV Gene

Proteins for CTSV Gene

  • Protein details for CTSV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cathepsin L2
    Protein Accession:
    Secondary Accessions:
    • O60233
    • Q2TB86
    • Q5T1U0

    Protein attributes for CTSV Gene

    334 amino acids
    Molecular mass:
    37329 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTSV Gene

neXtProt entry for CTSV Gene

Post-translational modifications for CTSV Gene

  • Glycosylation at Asn292 and Asn221
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSV Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CTSV Gene

Domains & Families for CTSV Gene

Gene Families for CTSV Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSV Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C1 family.
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSV: view

Function for CTSV Gene

Molecular function for CTSV Gene

UniProtKB/Swiss-Prot Function:
Cysteine protease. May have an important role in corneal physiology.
UniProtKB/Swiss-Prot CatalyticActivity:
The recombinant enzyme hydrolyzes proteins (serum albumin, collagen) and synthetic substrates (Z-Phe-Arg-NHMec > Z-Leu-Arg-NHMec > Z-Val-Arg-NHMec).
GENATLAS Biochemistry:
cathepsin V,thymus and testis specific cysteine protease

Enzyme Numbers (IUBMB) for CTSV Gene

Gene Ontology (GO) - Molecular Function for CTSV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0004197 cysteine-type endopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 12809493
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with CTSV: view
genes like me logo Genes that share phenotypes with CTSV: view

Animal Models for CTSV Gene

MGI Knock Outs for CTSV:
  • Ctsl Ctsl<tm1Cptr>
  • Ctsl Ctsl<tm1Alpk>
  • Ctsl Ctsl<tm1.2Thre>
  • Ctsl Ctsl<tm1.1Thre>

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTSV Gene

Localization for CTSV Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSV Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSV gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTSV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CTSV: view

Pathways & Interactions for CTSV Gene

genes like me logo Genes that share pathways with CTSV: view

Gene Ontology (GO) - Biological Process for CTSV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007154 cell communication IEA --
GO:0007283 spermatogenesis IEA --
GO:0008584 male gonad development IEA --
GO:0009267 cellular response to starvation IEA --
genes like me logo Genes that share ontologies with CTSV: view

No data available for SIGNOR curated interactions for CTSV Gene

Drugs & Compounds for CTSV Gene

(8) Drugs for CTSV Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3-amino-5-phenylpentane Experimental Pharma Target 0
4-Methylpiperazin-1-Yl Carbonyl Group Experimental Pharma Target 0
E-64-c Pharma Inhibitor of cysteine proteinases 0
Odanacatib (MK-0822) Pharma Cathepsin K,potent and selective 0
E 64d Pharma Cysteine protease inhibitor, Cathepsin inhibitor; interferes with autolysosomal digestion 0

(1) Additional Compounds for CTSV Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CTSV Gene

Compound Action Cas Number
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion 88321-09-9
L 006235 Potent cathepsin K inhibitor 294623-49-7
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
SID 26681509 Cathepsin L inhibitor 958772-66-2
genes like me logo Genes that share compounds with CTSV: view

Transcripts for CTSV Gene

mRNA/cDNA for CTSV Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTSV Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for CTSV Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTSV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTSV Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTSV Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x10.3), Testis (x9.8), Skin - Sun Exposed (Lower leg) (x8.6), Cervix - Ectocervix (x6.3), and Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for CTSV Gene

This gene is overexpressed in Hair follicle (47.6) and Cervix (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTSV Gene

Protein tissue co-expression partners for CTSV Gene

NURSA nuclear receptor signaling pathways regulating expression of CTSV Gene:


mRNA Expression by UniProt/SwissProt for CTSV Gene:

Tissue specificity: Predominantly expressed in the thymus and testis. Also expressed in corneal epithelium, and to a lesser extent in conjunctival epithelium and skin.

Evidence on tissue expression from TISSUES for CTSV Gene

  • Eye(4.2)
  • Kidney(4.2)
  • Nervous system(4.2)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with CTSV: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSV Gene

Orthologs for CTSV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSV Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTSL2 33
  • 99.8 (n)
  • 99 (a)
(Canis familiaris)
Mammalia LOC102156614 33
  • 85.94 (n)
CTSL1 34 34
  • 82 (a)
-- 34
  • 77 (a)
(Bos Taurus)
Mammalia CTSV 33
  • 83.68 (n)
CTSL2 34
  • 80 (a)
(Rattus norvegicus)
Mammalia Ctsl1 33
  • 77.38 (n)
(Mus musculus)
Mammalia Ctsl 16 34 33
  • 76.18 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
(Gallus gallus)
Aves CTSL2 34 33
  • 69.06 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsv 33
  • 67.56 (n)
(Danio rerio)
Actinopterygii ctsla 34 33
  • 68.17 (n)
ctsll 34
  • 63 (a)
zgc:174855 34
  • 60 (a)
ctslb 34 34 34
  • 60 (a)
si:dkey-26g8.5 34
  • 60 (a)
si:dkey-239j18.3 34
  • 60 (a)
si:dkey-269i1.3 34
  • 60 (a)
si:dkey-26g8.4 34
  • 60 (a)
si:dkey-269i1.4 34 34
  • 60 (a)
si:dkey-239j18.2 34
  • 60 (a)
zgc:174153 34
  • 60 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.166 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011828 33
  • 55.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cp1 34 33
  • 54.68 (n)
(Caenorhabditis elegans)
Secernentea cpl-1 34 33
  • 53.07 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G19390 33
  • 49.17 (n)
(Oryza sativa)
Liliopsida Os04g0670200 33
  • 51.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
-- 34
  • 47 (a)
Species where no ortholog for CTSV was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSV Gene

Gene Tree for CTSV (if available)
Gene Tree for CTSV (if available)
Evolutionary constrained regions (ECRs) for CTSV: view image

Paralogs for CTSV Gene

Paralogs for CTSV Gene

(8) SIMAP similar genes for CTSV Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CTSV: view

Variants for CTSV Gene

Sequence variations from dbSNP and Humsavar for CTSV Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000097893 -- 97,038,872(-) G/A intron_variant
rs1000293830 -- 97,029,404(-) G/A downstream_transcript_variant
rs1000372192 -- 97,041,575(-) A/C upstream_transcript_variant
rs1000530718 -- 97,034,238(-) T/C intron_variant
rs1000698763 -- 97,039,765(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CTSV Gene

Variant ID Type Subtype PubMed ID
nsv520001 CNV loss 19592680
nsv831661 CNV loss 17160897
nsv831662 CNV gain 17160897

Variation tolerance for CTSV Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 35.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSV Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSV Gene

Disorders for CTSV Gene

Additional Disease Information for CTSV

No disorders were found for CTSV Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CTSV Gene

Publications for CTSV Gene

  1. Human cathepsin V functional expression, tissue distribution, electrostatic surface potential, enzymatic characterization, and chromosomal localization. (PMID: 10029531) Brömme D … Mehler E (Biochemistry 1999) 2 3 4 22 58
  2. Cathepsin L2, a novel human cysteine proteinase produced by breast and colorectal carcinomas. (PMID: 9563472) Santamaría I … López-Otín C (Cancer research 1998) 2 3 4 22 58
  3. Crystal structure of human cathepsin V. (PMID: 11027133) Somoza JR … McGrath ME (Biochemistry 2000) 3 4 22 58
  4. Genomic organization and chromosomal localization of the human cathepsin L2 gene. (PMID: 10382972) Itoh R … Okubo K (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 22 58
  5. Isolation and characterization of human cathepsin V: a major proteinase in corneal epithelium. (PMID: 9727401) Adachi W … Okubo K (Investigative ophthalmology & visual science 1998) 3 4 22 58

Products for CTSV Gene

Sources for CTSV Gene

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