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Aliases for CAPN12 Gene

Aliases for CAPN12 Gene

  • Calpain 12 2 3 5
  • Calcium-Activated Neutral Proteinase 12 3 4
  • CANP 12 3 4
  • EC 61
  • EC 61
  • EC 3.4.22.- 4
  • Calpain-12 3
  • EC 3.4.22 61

External Ids for CAPN12 Gene

Previous GeneCards Identifiers for CAPN12 Gene

  • GC00U906237
  • GC19M043896
  • GC19M043912
  • GC19M043913
  • GC19M039220
  • GC19M035667

Summaries for CAPN12 Gene

Entrez Gene Summary for CAPN12 Gene

  • The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

GeneCards Summary for CAPN12 Gene

CAPN12 (Calpain 12) is a Protein Coding gene. Diseases associated with CAPN12 include Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Apoptosis Pathway and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN1.

UniProtKB/Swiss-Prot for CAPN12 Gene

  • Calcium-regulated non-lysosomal thiol-protease.

Tocris Summary for CAPN12 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.

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN12 Gene

Genomics for CAPN12 Gene

Regulatory Elements for CAPN12 Gene

Enhancers for CAPN12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G038673 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +75.0 75018 42.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF573 ZNF607 EID2B ACTN4 ENSG00000267152 RN7SL566P RPS16 LOC100631378 CAPN12 SUPT5H
GH19G038647 1.8 FANTOM5 ENCODE dbSUPER 21.7 +110.1 110112 25.6 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 ZNF781 ZNF607 ENSG00000267152 EID2B ZNF573 ENSG00000267892 CAPN12 ACTN4 RPS16 MED29
GH19G038725 1.4 ENCODE dbSUPER 20.6 +38.6 38614 11.8 HDGF PKNOX1 AGO1 SIN3A ZNF2 ZNF416 ZNF143 FOS PAF1 ZNF263 ZNF573 EID2B MED29 CAPN12 ENSG00000267892 LGALS7 SUPT5H FBXO17 LOC100631378 RPS16
GH19G038717 1.3 ENCODE dbSUPER 21.7 +49.0 48964 6.6 FOXA2 ARNT ZNF133 ARID4B ZNF121 GLIS2 ZNF263 SP5 YY2 MXD4 CAPN12 LGALS7 GC19P038731 PIR38555 GC19P038714 GC19P038713
GH19G038761 0.9 ENCODE 29.4 +6.8 6805 3.9 ATF1 PKNOX1 DMAP1 YY1 TCF12 GATA2 PAF1 ZNF263 ZNF592 SREBF1 LGALS7 CAPN12 LGALS7B GC19P038763 GC19P038739
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAPN12 on UCSC Golden Path with GeneCards custom track

Promoters for CAPN12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000288309 -1196 201 BCOR ZMYM3

Genomic Location for CAPN12 Gene

38,730,187 bp from pter
38,769,904 bp from pter
39,718 bases
Minus strand

Genomic View for CAPN12 Gene

Genes around CAPN12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN12 Gene

Proteins for CAPN12 Gene

  • Protein details for CAPN12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for CAPN12 Gene

    719 amino acids
    Molecular mass:
    81037 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CAPN12 Gene

Selected DME Specific Peptides for CAPN12 Gene


Post-translational modifications for CAPN12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CAPN12 Gene

Gene Families for CAPN12 Gene

Suggested Antigen Peptide Sequences for CAPN12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C2 family.
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN12: view

Function for CAPN12 Gene

Molecular function for CAPN12 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity.
UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease.

Enzyme Numbers (IUBMB) for CAPN12 Gene

Gene Ontology (GO) - Molecular Function for CAPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CAPN12: view
genes like me logo Genes that share phenotypes with CAPN12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CAPN12

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CAPN12 Gene

Localization for CAPN12 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 CAPN12 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CAPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with CAPN12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CAPN12 Gene

Pathways & Interactions for CAPN12 Gene

genes like me logo Genes that share pathways with CAPN12: view

Pathways by source for CAPN12 Gene

1 Tocris pathway for CAPN12 Gene

Interacting Proteins for CAPN12 Gene

Gene Ontology (GO) - Biological Process for CAPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA --
genes like me logo Genes that share ontologies with CAPN12: view

No data available for SIGNOR curated interactions for CAPN12 Gene

Drugs & Compounds for CAPN12 Gene

(3) Drugs for CAPN12 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PD 150606 Pharma Non-peptide calpain inhibitor, Cell permeable calpain inhibitor 0
calcium Nutra 0
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor, Selective calpain inhibitor 0

(1) Additional Compounds for CAPN12 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132

(2) Tocris Compounds for CAPN12 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6

(1) ApexBio Compounds for CAPN12 Gene

Compound Action Cas Number
PD 150606 Non-peptide calpain inhibitor 179528-45-1
genes like me logo Genes that share compounds with CAPN12: view

Drug Products

Transcripts for CAPN12 Gene

Unigene Clusters for CAPN12 Gene

Calpain 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN12 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c
SP1: -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - -
SP7: - - -

Relevant External Links for CAPN12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CAPN12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPN12 Gene

mRNA differential expression in normal tissues according to GTEx for CAPN12 Gene

This gene is overexpressed in Liver (x13.6), Kidney - Cortex (x8.3), Skin - Not Sun Exposed (Suprapubic) (x4.8), and Cervix - Endocervix (x4.2).

Protein differential expression in normal tissues from HIPED for CAPN12 Gene

This gene is overexpressed in Gallbladder (39.5) and Blymphocyte (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN12 Gene

Protein tissue co-expression partners for CAPN12 Gene

NURSA nuclear receptor signaling pathways regulating expression of CAPN12 Gene:


SOURCE GeneReport for Unigene cluster for CAPN12 Gene:


Evidence on tissue expression from TISSUES for CAPN12 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CAPN12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN12 Gene

Orthologs for CAPN12 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CAPN12 34 35
  • 97.75 (n)
(Canis familiaris)
Mammalia CAPN12 34 35
  • 88.78 (n)
(Bos Taurus)
Mammalia CAPN12 34 35
  • 86.44 (n)
(Mus musculus)
Mammalia Capn12 34 16 35
  • 83.87 (n)
(Rattus norvegicus)
Mammalia Capn12 34
  • 82.61 (n)
(Monodelphis domestica)
Mammalia CAPN12 35
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CAPN12 35
  • 73 (a)
(Anolis carolinensis)
Reptilia CAPN12 35
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495980 34
  • 53.63 (n)
(Danio rerio)
Actinopterygii capn12 35
  • 35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CalpA 35
  • 31 (a)
CalpB 35
  • 27 (a)
(Caenorhabditis elegans)
Secernentea clp-6 35
  • 31 (a)
clp-4 35
  • 27 (a)
clp-1 35
  • 26 (a)
clp-7 35
  • 26 (a)
clp-3 35
  • 25 (a)
Species where no ortholog for CAPN12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CAPN12 Gene

Gene Tree for CAPN12 (if available)
Gene Tree for CAPN12 (if available)

Paralogs for CAPN12 Gene

Paralogs for CAPN12 Gene

(8) SIMAP similar genes for CAPN12 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CAPN12: view

Variants for CAPN12 Gene

Sequence variations from dbSNP and Humsavar for CAPN12 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000857471 -- 38,736,112(+) CACAC(C/G)GCCGT nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon
rs1001001659 -- 38,745,297(+) TCAGC(A/G)TGTGT upstream-variant-2KB
rs1001224188 -- 38,742,644(+) GCCTA(C/G)GAGTT intron-variant
rs1001236862 -- 38,735,282(+) AAATG(A/G)GACAC intron-variant
rs1001274286 -- 38,729,633(+) AGGTT(A/G)GGGAG downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CAPN12 Gene

Variant ID Type Subtype PubMed ID
dgv641e199 CNV deletion 23128226
esv2661022 CNV deletion 23128226
esv2718536 CNV deletion 23290073
esv2718537 CNV deletion 23290073
esv3644310 CNV loss 21293372
nsv1072351 CNV deletion 25765185
nsv1118828 CNV deletion 24896259
nsv1133450 CNV deletion 24896259
nsv7307 OTHER inversion 18451855
nsv817834 CNV gain 17921354
nsv833828 CNV loss 17160897
nsv953300 CNV deletion 24416366

Variation tolerance for CAPN12 Gene

Residual Variation Intolerance Score: 68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.40; 88.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN12 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN12 Gene

Disorders for CAPN12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPN12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CAPN12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CAPN12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN12 Gene

Publications for CAPN12 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. HIV gp120 induced gene expression signatures in vaginal epithelial cells. (PMID: 23867815) Fanibunda S.E. … Bandivdekar A.H. (Microbes Infect. 2013) 3 64
  3. Effects of calpain and Rho-kinase inhibitors on the acrosome reaction and motility of fowl spermatozoa in vitro. (PMID: 16388011) Ashizawa K. … Tsuzuki Y. (Reproduction 2006) 22 64
  4. Profiling proteins related to amyloid deposited brain of Tg2576 mice. (PMID: 15378736) Shin S.J. … Mook-Jung I. (Proteomics 2004) 22 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for CAPN12 Gene

Sources for CAPN12 Gene

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