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Aliases for CAPNS2 Gene

Aliases for CAPNS2 Gene

  • Calpain Small Subunit 2 2 3 3 5
  • Calcium-Dependent Protease Small Subunit 2 3 4
  • CSS2 3 4

External Ids for CAPNS2 Gene

Previous GeneCards Identifiers for CAPNS2 Gene

  • GC16P046015
  • GC16P055338
  • GC16P055379
  • GC16P054158

Summaries for CAPNS2 Gene

GeneCards Summary for CAPNS2 Gene

CAPNS2 (Calpain Small Subunit 2) is a Protein Coding gene. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Neurodegenerative Diseases. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPNS1.

UniProtKB/Swiss-Prot for CAPNS2 Gene

  • Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity.

Tocris Summary for CAPNS2 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.

Additional gene information for CAPNS2 Gene

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPNS2 Gene

Genomics for CAPNS2 Gene

GeneHancer (GH) Regulatory Elements for CAPNS2 Gene

Promoters and enhancers for CAPNS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J055566 Enhancer 1 FANTOM5 Ensembl ENCODE 652.1 +1.7 1667 3.2 ZNF316 MAFF HLF CEBPA MAFG EMSY MAFK CAPNS2 LPCAT2 SLC6A2
GH16J055567 Promoter 0.5 EPDnew 650.7 0.0 -7 0.1 CAPNS2 LPCAT2 ENSG00000261997
GH16J055470 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.1 -95.0 -94998 2.7 JUN ZNF384 BATF ZIC2 ZNF121 ZNF335 FOSL1 ZNF766 FOSL2 FOS MMP2-AS1 LPCAT2 CAPNS2 GC16P055479 GC16P055480 MMP2
GH16J055623 Enhancer 1 ENCODE 11.1 +56.8 56772 0.3 FOXA2 MLX ARID4B DMAP1 SLC30A9 ZNF766 ZNF143 FOS SP5 NFYC CAPNS2 MMP2 SLC6A2
GH16J055665 Enhancer 0.6 ENCODE 10.6 +98.5 98532 0.2 SOX5 SOX13 TBX3 FOXA2 TEAD1 KDM1A PPARG RXRB TEAD3 MMP2 CAPNS2 LPCAT2 SLC6A2 ENSG00000278928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAPNS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAPNS2 gene promoter:

Genomic Locations for CAPNS2 Gene

Genomic Locations for CAPNS2 Gene
chr16:55,566,672-55,567,687
(GRCh38/hg38)
Size:
1,016 bases
Orientation:
Plus strand
chr16:55,600,584-55,601,599
(GRCh37/hg19)

Genomic View for CAPNS2 Gene

Genes around CAPNS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPNS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPNS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPNS2 Gene

Proteins for CAPNS2 Gene

  • Protein details for CAPNS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L46-CPNS2_HUMAN
    Recommended name:
    Calpain small subunit 2
    Protein Accession:
    Q96L46
    Secondary Accessions:
    • Q9BPV4

    Protein attributes for CAPNS2 Gene

    Size:
    248 amino acids
    Molecular mass:
    27660 Da
    Quaternary structure:
    • Heterodimer of a large (catalytic) and a small (regulatory) subunit.

neXtProt entry for CAPNS2 Gene

Post-translational modifications for CAPNS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPNS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAPNS2 Gene

Domains & Families for CAPNS2 Gene

Gene Families for CAPNS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CAPNS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAPNS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CAPNS2: view

No data available for UniProtKB/Swiss-Prot for CAPNS2 Gene

Function for CAPNS2 Gene

Molecular function for CAPNS2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity.

Gene Ontology (GO) - Molecular Function for CAPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IDA 17646163
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CAPNS2: view
genes like me logo Genes that share phenotypes with CAPNS2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPNS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CAPNS2 Gene

Localization for CAPNS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPNS2 Gene

Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon calcium binding. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
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 CAPNS2 gene
Compartment Confidence
plasma membrane 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CAPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CAPNS2: view

Pathways & Interactions for CAPNS2 Gene

genes like me logo Genes that share pathways with CAPNS2: view

Gene Ontology (GO) - Biological Process for CAPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with CAPNS2: view

No data available for SIGNOR curated interactions for CAPNS2 Gene

Drugs & Compounds for CAPNS2 Gene

(6) Drugs for CAPNS2 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Epoxomicin Pharma Proteasome inhibitor 0
MG-132 Pharma Proteasome inhibitor, Cell permeable, reversible 0
PSI Pharma Proteasome inhibitor 0
Calpeptin Pharma Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor 0

(2) Tocris Compounds for CAPNS2 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8

(3) ApexBio Compounds for CAPNS2 Gene

Compound Action Cas Number
Epoxomicin Proteasome inhibitor 134381-21-8
MG-132 Proteasome inhibitor, Cell permeable, reversible 133407-82-6
PSI Proteasome inhibitor 158442-41-2
genes like me logo Genes that share compounds with CAPNS2: view

Drug Products

Transcripts for CAPNS2 Gene

mRNA/cDNA for CAPNS2 Gene

(135) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CAPNS2 Gene

Calpain, small subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPNS2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPNS2 Gene

No ASD Table

Relevant External Links for CAPNS2 Gene

GeneLoc Exon Structure for
CAPNS2
ECgene alternative splicing isoforms for
CAPNS2

Expression for CAPNS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPNS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPNS2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x14.0), Skin - Sun Exposed (Lower leg) (x12.8), Esophagus - Mucosa (x12.5), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for CAPNS2 Gene

This gene is overexpressed in Hair follicle (47.5) and Cervix (19.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAPNS2 Gene



Protein tissue co-expression partners for CAPNS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAPNS2 Gene:

CAPNS2

SOURCE GeneReport for Unigene cluster for CAPNS2 Gene:

Hs.660027
genes like me logo Genes that share expression patterns with CAPNS2: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPNS2 Gene

Orthologs for CAPNS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPNS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPNS2 33
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia CAPNS2 33
  • 87.67 (n)
dog
(Canis familiaris)
Mammalia CAPNS2 33
  • 87.5 (n)
mouse
(Mus musculus)
Mammalia Capns2 16 34 33
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Capns2 33
  • 85.29 (n)
chicken
(Gallus gallus)
Aves CAPNS2 33
  • 71.12 (n)
zebrafish
(Danio rerio)
Actinopterygii capns1a 34
  • 60 (a)
ManyToMany
capns1b 34
  • 60 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012067 33
  • 50.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 34
  • 11 (a)
OneToMany
Species where no ortholog for CAPNS2 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAPNS2 Gene

ENSEMBL:
Gene Tree for CAPNS2 (if available)
TreeFam:
Gene Tree for CAPNS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPNS2: view image

Paralogs for CAPNS2 Gene

Paralogs for CAPNS2 Gene

(10) SIMAP similar genes for CAPNS2 Gene using alignment to 1 proteins:

  • CPNS2_HUMAN
genes like me logo Genes that share paralogs with CAPNS2: view

Variants for CAPNS2 Gene

Sequence variations from dbSNP and Humsavar for CAPNS2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1001906948 -- 55,567,961(+) T/C downstream_transcript_variant
rs1004190041 -- 55,567,540(+) C/G/T 3_prime_UTR_variant
rs1005039568 -- 55,565,853(+) A/T upstream_transcript_variant
rs1006044092 -- 55,567,521(+) C/T 3_prime_UTR_variant
rs1008988575 -- 55,565,361(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CAPNS2 Gene

Variant ID Type Subtype PubMed ID
dgv2984n100 CNV loss 25217958
nsv1062908 CNV loss 25217958
nsv521337 CNV loss 19592680

Variation tolerance for CAPNS2 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPNS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPNS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPNS2 Gene

Disorders for CAPNS2 Gene

Additional Disease Information for CAPNS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CAPNS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CAPNS2 Gene

Publications for CAPNS2 Gene

  1. A novel human small subunit of calpains. (PMID: 11853546) Schád E … Friedrich P (The Biochemical journal 2002) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Expression of calpain small subunit 2 in mammalian tissues. (PMID: 15590481) Ma H … Shearer TR (Current eye research 2004) 3 22 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CAPNS2 Gene

Sources for CAPNS2 Gene

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