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Aliases for CAPN5 Gene

Aliases for CAPN5 Gene

  • Calpain 5 2 3 5
  • Calpain Htra-3 3 4
  • New Calpain 3 3 4
  • NCL-3 3 4
  • Vitreoretinopathy, Neovascular Inflammatory 2
  • Testis Tissue Sperm-Binding Protein Li 91mP 3
  • EC 3.4.22.54 63
  • EC 3.4.22.- 4
  • EC 3.4.22 63
  • ADNIV 3
  • HTRA3 3
  • VRNI 3
  • NCL3 4

External Ids for CAPN5 Gene

Previous HGNC Symbols for CAPN5 Gene

  • VRNI

Previous GeneCards Identifiers for CAPN5 Gene

  • GC11P079104
  • GC11P078317
  • GC11P077000
  • GC11P076504
  • GC11P076455
  • GC11P076777
  • GC11P073075

Summaries for CAPN5 Gene

Entrez Gene Summary for CAPN5 Gene

  • Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]

GeneCards Summary for CAPN5 Gene

CAPN5 (Calpain 5) is a Protein Coding gene. Diseases associated with CAPN5 include vitreoretinopathy, neovascular inflammatory and exudative vitreoretinopathy 6. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. GO annotations related to this gene include calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN9.

Tocris Summary for CAPN5 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

Gene Wiki entry for CAPN5 Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN5 Gene

Genomics for CAPN5 Gene

Regulatory Elements for CAPN5 Gene

Promoters for CAPN5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CAPN5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CAPN5 Gene

Chromosome:
11
Start:
77,066,932 bp from pter
End:
77,126,155 bp from pter
Size:
59,224 bases
Orientation:
Plus strand

Genomic View for CAPN5 Gene

Genes around CAPN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN5 Gene

Proteins for CAPN5 Gene

  • Protein details for CAPN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15484-CAN5_HUMAN
    Recommended name:
    Calpain-5
    Protein Accession:
    O15484
    Secondary Accessions:
    • O00263

    Protein attributes for CAPN5 Gene

    Size:
    640 amino acids
    Molecular mass:
    73169 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CAPN5 Gene

Proteomics data for CAPN5 Gene at MOPED

Selected DME Specific Peptides for CAPN5 Gene

Post-translational modifications for CAPN5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPN5 Gene

Domains & Families for CAPN5 Gene

Gene Families for CAPN5 Gene

Suggested Antigen Peptide Sequences for CAPN5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15484

UniProtKB/Swiss-Prot:

CAN5_HUMAN :
  • Contains 1 C2 domain.
  • Belongs to the peptidase C2 family.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 calpain catalytic domain.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN5: view

Function for CAPN5 Gene

Molecular function for CAPN5 Gene

GENATLAS Biochemistry:
calpain,class B,large polypeptide,calcium independent cysteine proteinase,papain superfamily,nCL-3 type,specifically expressed in colon,small intestine,testis homolog to C elegans sex determination gene tra3
UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity.

Enzyme Numbers (IUBMB) for CAPN5 Gene

genes like me logo Genes that share phenotypes with CAPN5: view

Human Phenotype Ontology for CAPN5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAPN5 Gene

MGI Knock Outs for CAPN5:

Animal Model Products

miRNA for CAPN5 Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CAPN5 Gene

Localization for CAPN5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPN5 Gene COMPARTMENTS Subcellular localization image for CAPN5 gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for CAPN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CAPN5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CAPN5 Gene

Pathways & Interactions for CAPN5 Gene

genes like me logo Genes that share pathways with CAPN5: view

Pathways by source for CAPN5 Gene

Interacting Proteins for CAPN5 Gene

Gene Ontology (GO) - Biological Process for CAPN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0060014 granulosa cell differentiation IEA --
genes like me logo Genes that share ontologies with CAPN5: view

No data available for SIGNOR curated interactions for CAPN5 Gene

Drugs & Compounds for CAPN5 Gene

(1) Drugs for CAPN5 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(4) Additional Compounds for CAPN5 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetyl-Calpastatin (184-210) (human)
123714-50-1
Calpeptin
117591-20-5
MG 132
133407-82-6
PD 150606
179528-45-1
genes like me logo Genes that share compounds with CAPN5: view

Transcripts for CAPN5 Gene

Unigene Clusters for CAPN5 Gene

Calpain 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - - - - - - -
SP6:

Relevant External Links for CAPN5 Gene

GeneLoc Exon Structure for
CAPN5
ECgene alternative splicing isoforms for
CAPN5

Expression for CAPN5 Gene

mRNA expression in normal human tissues for CAPN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPN5 Gene

This gene is overexpressed in Colon - Transverse (x7.0).

Protein differential expression in normal tissues from HIPED for CAPN5 Gene

This gene is overexpressed in Testis (18.5) and Spinal cord (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN5 Gene



SOURCE GeneReport for Unigene cluster for CAPN5 Gene Hs.248153

mRNA Expression by UniProt/SwissProt for CAPN5 Gene

O15484-CAN5_HUMAN
Tissue specificity: Expressed in many tissues. Strong expression in the photoreceptor cells of the retina, with a punctate pattern of labeling over the nuclei and inner segments with less expression along the other segments and outer plexiform layer.
genes like me logo Genes that share expression patterns with CAPN5: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CAPN5 Gene

Orthologs for CAPN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPN5 35
  • 97.86 (n)
  • 97.13 (a)
cow
(Bos Taurus)
Mammalia CAPN5 35
  • 91.04 (n)
  • 93.44 (a)
CAPN5 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN5 36
  • 92 (a)
OneToOne
CAPN5 35
  • 89.53 (n)
  • 92.03 (a)
mouse
(Mus musculus)
Mammalia Capn5 35
  • 87.92 (n)
  • 92.19 (a)
Capn5 16
Capn5 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPN5 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN5 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn5 35
  • 87.4 (n)
  • 90.62 (a)
chicken
(Gallus gallus)
Aves CAPN5 36
  • 80 (a)
OneToOne
CAPN5 35
  • 76.79 (n)
  • 79.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia capn5-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia capn5 35
  • 73.12 (n)
  • 73.91 (a)
zebrafish
(Danio rerio)
Actinopterygii capn5a 36
  • 69 (a)
OneToMany
capn5b 36
  • 71 (a)
OneToMany
capn5b 35
  • 70.68 (n)
  • 71.72 (a)
worm
(Caenorhabditis elegans)
Secernentea tra-3 35
  • 46.13 (n)
  • 41.83 (a)
clp-6 37
  • 39 (a)
clp-7 37
  • 40 (a)
tra-3 37
  • 39 (a)
tra-3 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3869 36
  • 29 (a)
OneToMany
Species with no ortholog for CAPN5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPN5 Gene

ENSEMBL:
Gene Tree for CAPN5 (if available)
TreeFam:
Gene Tree for CAPN5 (if available)

Paralogs for CAPN5 Gene

(7) SIMAP similar genes for CAPN5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CAPN5: view

Variants for CAPN5 Gene

Sequence variations from dbSNP and Humsavar for CAPN5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_069277 Vitreoretinopathy, neovascular inflammatory (VRNI)
VAR_069278 Vitreoretinopathy, neovascular inflammatory (VRNI)
rs8251 -- 77,125,818(+) GGGCC(A/C/G)GGGCA utr-variant-3-prime
rs875874 -- 77,123,570(+) CCCCC(A/G)ATCCT intron-variant
rs875875 -- 77,123,666(+) CTCCC(A/G)TGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAPN5 Gene

Variant ID Type Subtype PubMed ID
dgv1225n71 CNV Loss 21882294
nsv825998 CNV Gain 20364138
esv2744802 CNV Deletion 23290073
esv1254554 CNV Deletion 17803354
nsv509434 CNV Insertion 20534489
nsv897935 CNV Loss 21882294
nsv825999 CNV Gain 20364138

Variation tolerance for CAPN5 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.25; 62.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN5 Gene

HapMap Linkage Disequilibrium report
CAPN5
Human Gene Mutation Database (HGMD)
CAPN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN5 Gene

Disorders for CAPN5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CAPN5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vitreoretinopathy, neovascular inflammatory
  • proliferative vitreoretinopathy
exudative vitreoretinopathy 6
  • vitreoretinopathy, exudative 6
posterior uveitis
  • uveitis, posterior
uveitis
macular dystrophy, dominant cystoid
  • cystoid macular edema
- elite association - COSMIC cancer census association via MalaCards
Search CAPN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAN5_HUMAN
  • Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]: An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis. {ECO:0000269 PubMed:23055945}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CAPN5

Genetic Association Database (GAD)
CAPN5
Human Genome Epidemiology (HuGE) Navigator
CAPN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN5
genes like me logo Genes that share disorders with CAPN5: view

No data available for Genatlas for CAPN5 Gene

Publications for CAPN5 Gene

  1. Identification of a novel, tissue-specific calpain htra-3; a human homologue of the Caenorhabditis elegans sex determination gene. (PMID: 9367857) Mugita N. … Nakao M. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23 67
  2. Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PMID: 9503024) Matena K. … Dear N. (Genomics 1998) 2 3 23
  3. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. (PMID: 23055945) Mahajan V.B. … Stone E.M. (PLoS Genet. 2012) 2 3
  4. Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity. (PMID: 18657264) SA!ez M.E. … Serrano-RA-os M. (Cardiovasc Diabetol 2008) 3 23
  5. Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels. (PMID: 17227582) SA!ez M.E. … Serrano-RA-os M. (BMC Med. Genet. 2007) 3 23

Products for CAPN5 Gene

Sources for CAPN5 Gene

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