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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 3.4.22.54 56
  • EC 3.4.22.52 56
  • EC 3.4.22.- 4
  • Calpain-12 3
  • EC 3.4.22 56

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. 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I038769 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 550.8 +0.0 28 1.2 CTCF KLF1 KLF17 SIN3A MAX KLF5 RAD21 POLR2A SMC3 ZNF143 CAPN12 LGALS7 RNU6-140P PAK4 ENSG00000267892 GC19P038763
GH19I038744 Promoter 0.8 EPDnew 550.3 +25.7 25710 0.1 SMARCA5 HDAC2 POLR2A KDM1A NR2F2 CAPN12 GC19P038739 GC19P038763
GH19I038771 Promoter/Enhancer 0.7 Ensembl dbSUPER 550.8 -1.2 -1197 0.2 CAPN12 RNU6-140P PAK4 LGALS7 GC19P038763
GH19I038647 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
GH19I038673 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.5 +75.0 75018 42 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF548 SP3 ENSG00000267375 HNRNPL ZNF573 ZNF607 ACTN4 SUPT5H ENSG00000269688 PAF1 CAPN12 PAK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAPN12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAPN12 gene promoter:

Genomic Locations for CAPN12 Gene

Genomic Locations for CAPN12 Gene
chr19:38,730,187-38,769,904
(GRCh38/hg38)
Size:
39,718 bases
Orientation:
Minus strand
chr19:39,220,827-39,260,544
(GRCh37/hg19)

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:
    Q6ZSI9-CAN12_HUMAN
    Recommended name:
    Calpain-12
    Protein Accession:
    Q6ZSI9

    Protein attributes for CAPN12 Gene

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

neXtProt entry for CAPN12 Gene

Selected DME Specific Peptides for CAPN12 Gene

Q6ZSI9:
  • LVKGHAY
  • RLRNPWG
  • LLEKAYAKLHGSYE
  • AGFHLNNQL
  • TFWTNPQ
  • LLEKAYAK
  • FHFQLWQFG

Post-translational modifications for CAPN12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CAPN12 Gene

Gene Families for CAPN12 Gene

HGNC:
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

Q6ZSI9

UniProtKB/Swiss-Prot:

CAN12_HUMAN :
  • Belongs to the peptidase C2 family.
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

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 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

Interacting Proteins 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
PD 150606 Pharma Non-peptide calpain inhibitor 0

(1) Additional Compounds for CAPN12 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

(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:

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: - -
SP6:
SP7: - - -

Relevant External Links for CAPN12 Gene

GeneLoc Exon Structure for
CAPN12
ECgene alternative splicing isoforms for
CAPN12

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:

CAPN12

SOURCE GeneReport for Unigene cluster for CAPN12 Gene:

Hs.731775

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
chimpanzee
(Pan troglodytes)
Mammalia CAPN12 33 34
  • 97.75 (n)
dog
(Canis familiaris)
Mammalia CAPN12 33 34
  • 88.78 (n)
cow
(Bos Taurus)
Mammalia CAPN12 33 34
  • 86.44 (n)
mouse
(Mus musculus)
Mammalia Capn12 33 16 34
  • 83.87 (n)
rat
(Rattus norvegicus)
Mammalia Capn12 33
  • 82.61 (n)
oppossum
(Monodelphis domestica)
Mammalia CAPN12 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN12 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN12 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495980 33
  • 53.63 (n)
zebrafish
(Danio rerio)
Actinopterygii capn12 34
  • 35 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CalpA 34
  • 31 (a)
ManyToMany
CalpB 34
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea clp-6 34
  • 31 (a)
ManyToMany
clp-4 34
  • 27 (a)
ManyToMany
clp-1 34
  • 26 (a)
ManyToMany
clp-7 34
  • 26 (a)
ManyToMany
clp-3 34
  • 25 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CAPN12 (if available)
TreeFam:
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 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)
CAPN12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN12

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

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