Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activ... See more...

Aliases for CAPN7 Gene

Aliases for CAPN7 Gene

  • Calpain 7 2 3 5
  • Homolog Of Aspergillus Nidulans PALB 2 3
  • Calpain Like Protease 2 3
  • PalB Homolog 3 4
  • Calpain-7 3 4
  • PALBH 3 4
  • PalBH 2 4
  • EC 3.4.22.- 4
  • EC 3.4.22 50
  • CALPAIN7 3
  • CAPN7 5

External Ids for CAPN7 Gene

Previous GeneCards Identifiers for CAPN7 Gene

  • GC03P015177
  • GC03P015222
  • GC03P015328
  • GC03P015359
  • GC03P015363
  • GC03P015434
  • GC03P015223
  • GC03P015233
  • GC03P015251
  • GC03P015269
  • GC03P015286
  • GC03P015318
  • GC03P015521
  • GC03P015595

Summaries for CAPN7 Gene

Entrez Gene Summary for CAPN7 Gene

  • Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for CAPN7 Gene

CAPN7 (Calpain 7) is a Protein Coding gene. Diseases associated with CAPN7 include Coffin-Siris Syndrome 1 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include endopeptidase activity and MIT domain binding. An important paralog of this gene is CAPN1.

UniProtKB/Swiss-Prot Summary for CAPN7 Gene

Tocris Summary for CAPN7 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 , Rfam classification and piRNA Summary for CAPN7 Gene

Genomics for CAPN7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CAPN7 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
GH03J015205 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 281.7 +0.8 849 3.2 SP1 ZNF207 MYC ZNF600 ZNF580 ZNF592 KLF9 POLR2A ZNF10 ZSCAN16 CAPN7 COL6A4P1 SH3BP5-AS1 CCDC174 NR2C2 HACL1 EAF1-AS1 SH3BP5 tRX-Lys-NNN-2-1
GH03J015204 Enhancer 0.9 Ensembl ENCODE 250.7 -2.0 -1951 0.4 CEBPA FOXA2 SAP130 TEAD3 JUND ATF4 ATF2 CEBPG CREM NFIL3 COL6A4P1 CAPN7 KR153194-127 RBSN
GH03J015097 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 49.3 -107.2 -107151 2.8 BCLAF1 SP1 NCOR1 ZNF207 IKZF1 MYC ZNF600 SIX5 ZNF580 ATF2 HSALNG0024373 RBSN lnc-NR2C2-3 piR-50437-454 CCDC174 NR2C2 SH3BP5-AS1 CAPN7 XPC XPC-AS1
GH03J015600 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 27.4 +395.5 395548 3 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 ZNF580 ZNF592 KLF9 POLR2A HACL1 BTD HSALNG0024436 SH3BP5-AS1 CCDC174 CAPN7 NR2C2 COLQ
GH03J015268 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 37 +64.8 64825 5.8 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 MYC ZNF600 IKZF1 JUND ZNF592 HSALNG0024395 CCDC174 SH3BP5-AS1 CAPN7 NR2C2 RNU6-454P SH3BP5 COL6A4P1 RNU6-1024P RBSN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN7

Top Transcription factor binding sites by QIAGEN in the CAPN7 gene promoter:
  • Cart-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • HTF
  • Pax-2
  • Pax-2a
  • YY1

Genomic Locations for CAPN7 Gene

Latest Assembly
chr3:15,206,152-15,252,916
(GRCh38/hg38)
Size:
46,765 bases
Orientation:
Plus strand

Previous Assembly
chr3:15,247,753-15,294,423
(GRCh37/hg19 by Entrez Gene)
Size:
46,671 bases
Orientation:
Plus strand

chr3:15,247,659-15,294,425
(GRCh37/hg19 by Ensembl)
Size:
46,767 bases
Orientation:
Plus strand

Genomic View for CAPN7 Gene

Genes around CAPN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN7 Gene

Proteins for CAPN7 Gene

  • Protein details for CAPN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6W3-CAN7_HUMAN
    Recommended name:
    Calpain-7
    Protein Accession:
    Q9Y6W3

    Protein attributes for CAPN7 Gene

    Size:
    813 amino acids
    Molecular mass:
    92652 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CAPN7 Gene

neXtProt entry for CAPN7 Gene

Selected DME Specific Peptides for CAPN7 Gene

Q9Y6W3:
  • GGYDFPGSNS
  • GQSAGGC

Post-translational modifications for CAPN7 Gene

  • Ubiquitination at Lys130, Lys217, Lys320, Lys419, and Lys503
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for CAPN7

Domains & Families for CAPN7 Gene

Gene Families for CAPN7 Gene

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

Protein Domains for CAPN7 Gene

Suggested Antigen Peptide Sequences for CAPN7 Gene

GenScript: Design optimal peptide antigens:
  • PalB homolog (CAN7_HUMAN)
  • Calpain 7 (Q7Z479_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6W3

UniProtKB/Swiss-Prot:

CAN7_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN7: view

Function for CAPN7 Gene

Molecular function for CAPN7 Gene

UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease.

Enzyme Numbers (IUBMB) for CAPN7 Gene

Phenotypes From GWAS Catalog for CAPN7 Gene

Gene Ontology (GO) - Molecular Function for CAPN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 20849418
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 20849418
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CAPN7: view
genes like me logo Genes that share phenotypes with CAPN7: view

Animal Models for CAPN7 Gene

MGI Knock Outs for CAPN7:

Animal Models for research

  • Taconic Biosciences Mouse Models for CAPN7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN7 Gene

Localization for CAPN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN7 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 CAPN7 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
endosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with CAPN7: view

Pathways & Interactions for CAPN7 Gene

PathCards logo

SuperPathways for CAPN7 Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.37
.36
.31
2 Degradation of the extracellular matrix
3 Apoptosis Pathway
4 ERK Signaling
.61
5 Integrin Pathway
.67
genes like me logo Genes that share pathways with CAPN7: view

Pathways by source for CAPN7 Gene

1 BioSystems pathway for CAPN7 Gene
1 Tocris pathway for CAPN7 Gene
5 Qiagen pathways for CAPN7 Gene
  • Calpain Protease Regulates Cellular Mechanics
  • Caspase Cascade
  • ERK Signaling
  • FAK1 Signaling
  • nNOS Signaling in Skeletal Muscle

Gene Ontology (GO) - Biological Process for CAPN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0010634 positive regulation of epithelial cell migration IDA 23855590
GO:0097264 self proteolysis IDA 20849418
genes like me logo Genes that share ontologies with CAPN7: view

No data available for SIGNOR curated interactions for CAPN7 Gene

Drugs & Compounds for CAPN7 Gene

(3) Drugs for CAPN7 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
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 CAPN7 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 CAPN7: view

Transcripts for CAPN7 Gene

mRNA/cDNA for CAPN7 Gene

7 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN7

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a ·
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:

ExUns: 22b · 22c
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CAPN7 Gene

GeneLoc Exon Structure for
CAPN7

Expression for CAPN7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPN7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAPN7 Gene

This gene is overexpressed in Urine (42.4) and Lymph node (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAPN7 Gene



Protein tissue co-expression partners for CAPN7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN7

SOURCE GeneReport for Unigene cluster for CAPN7 Gene:

Hs.595234

mRNA Expression by UniProt/SwissProt for CAPN7 Gene:

Q9Y6W3-CAN7_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CAPN7 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CAPN7: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN7 Gene

Orthologs for CAPN7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CAPN7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CAPN7 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CAPN7 29 30
  • 93.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CAPN7 29 30
  • 91.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Capn7 29 16 30
  • 89.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Capn7 29
  • 89.09 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 85 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia CAPN7 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CAPN7 29 30
  • 79.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CAPN7 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia capn7 29
  • 74.57 (n)
Str.14941 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.15745 29
Zebrafish
(Danio rerio)
Actinopterygii capn7 29 30
  • 70.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010834 29
  • 51.99 (n)
Worm
(Caenorhabditis elegans)
Secernentea clp-2 29 30 31
  • 52.37 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM13 32
Bread mold
(Neurospora crassa)
Ascomycetes NCU00317 29
  • 42.19 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToOne
Species where no ortholog for CAPN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 CAPN7 Gene

ENSEMBL:
Gene Tree for CAPN7 (if available)
TreeFam:
Gene Tree for CAPN7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPN7: view image
Alliance of Genome Resources:
Additional Orthologs for CAPN7

Paralogs for CAPN7 Gene

genes like me logo Genes that share paralogs with CAPN7: view

Variants for CAPN7 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CAPN7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CAPN7 Gene

Variant ID Type Subtype PubMed ID
esv2548358 CNV insertion 19546169
esv3595380 CNV loss 21293372
nsv1009775 CNV loss 25217958
nsv237085 CNV deletion 16902084
nsv428413 CNV gain 18775914
nsv525308 CNV loss 19592680

Variation tolerance for CAPN7 Gene

Residual Variation Intolerance Score: 4.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPN7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN7
Leiden Open Variation Database (LOVD)
CAPN7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN7 Gene

Disorders for CAPN7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CAPN7 Gene - From: COP

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search CAPN7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAPN7

genes like me logo Genes that share disorders with CAPN7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN7 Gene

Publications for CAPN7 Gene

  1. Molecular cloning of PalBH, a mammalian homologue of the Aspergillus atypical calpain PalB. (PMID: 11342116) Futai E … Maeda T (Biochimica et biophysica acta 2001) 3 4 22
  2. Capn7: a highly divergent vertebrate calpain with a novel C-terminal domain. (PMID: 10051333) Franz T … Dear TN (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3
  3. New era of calpain research. Discovery of tissue-specific calpains. (PMID: 8163008) Sorimachi H … Suzuki K (FEBS letters 1994) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. (PMID: 31617661) Botham A … Schimmer A (Proteomics 2019) 3

Products for CAPN7 Gene

Sources for CAPN7 Gene