Free for academic non-profit institutions. Other users need a Commercial license

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 3.4.22.- 4
  • Calpain-12 3

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 Degradation of the extracellular matrix and Apoptosis Pathway. 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 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.

Additional gene information for CAPN12 Gene

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

GeneHancer (GH) Regulatory Elements for CAPN12 Gene

Promoters and enhancers for CAPN12 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
GH19J038725 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 670.6 +38.6 38613 11.8 HDGF PKNOX1 SIN3A ZNF2 ZNF416 ZNF143 KLF13 PAF1 ZNF263 SP3 CAPN12 PIR38555 GC19P038731 ZNF573 HNRNPL ENSG00000266963 PAK4 SUPT5H CATSPERG ENSG00000267892
GH19J038769 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 650.7 +0.0 28 1.2 CTCF KLF1 KLF17 MAX SIN3A KLF14 KLF5 RAD21 POLR2A SMC3 CAPN12 LGALS7 RNU6-140P PAK4 ENSG00000267892 GC19P038763
GH19J038744 Promoter 0.8 EPDnew 650.3 +25.7 25710 0.1 SMARCA5 HDAC2 POLR2A KDM1A NR2F2 CAPN12 GC19P038739 GC19P038763
GH19J038771 Promoter/Enhancer 0.7 Ensembl dbSUPER 650.7 -1.2 -1197 0.2 CAPN12 RNU6-140P PAK4 LGALS7 GC19P038763
GH19J038647 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.7 +110.1 110111 25.6 ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZC3H11A ACTN4 HNRNPL ZFP30 ZNF607 ZNF781 ZNF573 SUPT5H ENSG00000267152 PAK4 RN7SL566P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAPN12 gene promoter:
  • Max
  • c-Myc
  • S8
  • Egr-2
  • Sp1
  • SREBP-1c
  • SREBP-1a
  • SREBP-1b
  • Roaz
  • ZIC2

Genomic Locations for CAPN12 Gene

Genomic Locations for CAPN12 Gene
39,718 bases
Minus strand
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

Post-translational modifications for CAPN12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAPN12 Gene

Domains & Families for CAPN12 Gene

Gene Families for CAPN12 Gene

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

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 Function:
Calcium-regulated non-lysosomal thiol-protease.

Enzyme Numbers (IUBMB) for CAPN12 Gene

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
See all subcellular structures

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

Gene Ontology (GO) - Biological Process for CAPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA,IEA --
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

(4) Drugs for CAPN12 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
PD 150606 Pharma Non-peptide calpain inhibitor 0
Calpeptin Pharma Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(2) Tocris Compounds for CAPN12 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
genes like me logo Genes that share compounds with CAPN12: view

Transcripts for CAPN12 Gene

Unigene Clusters for CAPN12 Gene

Calpain 12:
Representative Sequences:

Clone 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 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

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 33
  • 97.75 (n)
(Canis familiaris)
Mammalia CAPN12 34 33
  • 88.78 (n)
(Bos Taurus)
Mammalia CAPN12 34 33
  • 86.44 (n)
(Mus musculus)
Mammalia Capn12 16 34 33
  • 83.87 (n)
(Rattus norvegicus)
Mammalia Capn12 33
  • 82.61 (n)
(Monodelphis domestica)
Mammalia CAPN12 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CAPN12 34
  • 73 (a)
(Anolis carolinensis)
Reptilia CAPN12 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495980 33
  • 53.63 (n)
(Danio rerio)
Actinopterygii capn12 34
  • 35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CalpA 34
  • 31 (a)
CalpB 34
  • 27 (a)
(Caenorhabditis elegans)
Secernentea clp-6 34
  • 31 (a)
clp-4 34
  • 27 (a)
clp-7 34
  • 26 (a)
clp-1 34
  • 26 (a)
clp-3 34
  • 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)
Evolutionary constrained regions (ECRs) for CAPN12: view image

Paralogs for CAPN12 Gene

Paralogs for CAPN12 Gene

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

  • M0QZ20_HUMAN
  • M0R052_HUMAN
  • M0R0X4_HUMAN
  • M0R3D7_HUMAN
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 Variation AA Info Type
rs1000857471 -- 38,736,112(-) G/A/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1001001659 -- 38,745,297(-) G/A upstream_transcript_variant
rs1001224188 -- 38,742,644(-) G/C intron_variant
rs1001236862 -- 38,735,282(-) A/G genic_downstream_transcript_variant, intron_variant
rs1001274286 -- 38,729,633(-) G/A downstream_transcript_variant

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)

Additional Variant Information 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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for CAPN12

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 (Nature genetics 2004) 3 4 58
  2. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. (PMID: 27769845) Bochner R … Sprecher E (The Journal of investigative dermatology 2017) 3 58
  3. HIV gp120 induced gene expression signatures in vaginal epithelial cells. (PMID: 23867815) Fanibunda SE … Bandivdekar AH (Microbes and infection 2013) 3 58
  4. 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 (Cambridge, England) 2006) 22 58
  5. Profiling proteins related to amyloid deposited brain of Tg2576 mice. (PMID: 15378736) Shin SJ … Mook-Jung I (Proteomics 2004) 22 58

Products for CAPN12 Gene

Sources for CAPN12 Gene

Loading form....