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Aliases for CASP7 Gene

Aliases for CASP7 Gene

  • Caspase 7 2 3 5
  • Caspase 7, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 7, Apoptosis-Related Cysteine Protease 2 3
  • ICE-Like Apoptotic Protease 3 3 4
  • ICE-LAP3 3 4
  • CASP-7 3 4
  • CMH-1 3 4
  • MCH3 3 4
  • Apoptotic Protease MCH-3 3
  • Apoptotic Protease Mch-3 4
  • EC 4
  • Caspase-7 3
  • LICE2 3

External Ids for CASP7 Gene

Previous GeneCards Identifiers for CASP7 Gene

  • GC10P114346
  • GC10P114672
  • GC10P115570
  • GC10P115103
  • GC10P115428
  • GC10P109065

Summaries for CASP7 Gene

Entrez Gene Summary for CASP7 Gene

  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for CASP7 Gene

CASP7 (Caspase 7) is a Protein Coding gene. Diseases associated with CASP7 include Type 1 Diabetes Mellitus 17 and Cardiomyopathy, Familial Hypertrophic, 1. Among its related pathways are Activation of caspases through apoptosome-mediated cleavage and Parkinsons Disease Pathway. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and aspartic-type endopeptidase activity. An important paralog of this gene is CASP3.

UniProtKB/Swiss-Prot for CASP7 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a 216-Asp- -Gly-217 bond. Overexpression promotes programmed cell death.

Tocris Summary for CASP7 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP7 Gene

Additional gene information for CASP7 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP7 Gene

Genomics for CASP7 Gene

GeneHancer (GH) Regulatory Elements for CASP7 Gene

Promoters and enhancers for CASP7 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
GH10J113678 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 693 +1.5 1478 4.1 HDGF PKNOX1 NEUROD1 SIN3A FEZF1 DMAP1 YBX1 ZNF2 IRF4 YY1 CASP7 UBE2V1P5 NHLRC2 LOC105378488 CCDC186 ENSG00000234393
GH10J113788 Enhancer 1 Ensembl ENCODE 22.8 +109.8 109813 1.1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 RUNX3 CASP7 ENSG00000234393 RNU6-709P PLEKHS1 ADRB1 NRAP MIR4483 ENSG00000212589
GH10J113708 Enhancer 0.9 Ensembl ENCODE 22.4 +30.4 30350 1.3 ZBTB6 POLR2A ZNF26 FOSL2 ZNF600 FOS ZNF10 ZBTB11 ZEB2 PRDM6 CASP7 TCF7L2 ENSG00000234393
GH10J113750 Enhancer 0.5 ENCODE 38.7 +73.7 73732 5.2 MEIS2 STAT1 PKNOX1 ZNF10 USF2 PLEKHS1 CASP7 ENSG00000234393 NRAP MIR4483
GH10J113665 Enhancer 0.9 ENCODE dbSUPER 18.5 -13.1 -13058 1.7 JUN STAT5A CEBPG ZNF335 GATA3 NFATC1 ATF7 FOS RUNX3 MAZ NRAP CASP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASP7 gene promoter:
  • aMEF-2
  • MEF-2A

Genomic Locations for CASP7 Gene

Genomic Locations for CASP7 Gene
51,748 bases
Plus strand
51,730 bases
Plus strand

Genomic View for CASP7 Gene

Genes around CASP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP7 Gene

Proteins for CASP7 Gene

  • Protein details for CASP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DQU7
    • B5BU45
    • D3DRB8
    • Q13364
    • Q53YD5
    • Q5SVL0
    • Q5SVL3
    • Q96BA0

    Protein attributes for CASP7 Gene

    303 amino acids
    Molecular mass:
    34277 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 20 kDa (p20) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for CASP7 Gene

    Alternative splice isoforms for CASP7 Gene


neXtProt entry for CASP7 Gene

Post-translational modifications for CASP7 Gene

  • Cleavages by granzyme B or caspase-10 generate the two active subunits. Propeptide domains can also be cleaved efficiently by caspase-3. Active heterodimers between the small subunit of caspase-7 and the large subunit of caspase-3, and vice versa, also occur.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CASP7 Gene

Domains & Families for CASP7 Gene

Gene Families for CASP7 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CASP7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C14A family.
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP7: view

Function for CASP7 Gene

Molecular function for CASP7 Gene

UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a 216-Asp- -Gly-217 bond. Overexpression promotes programmed cell death.
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for an Asp residue at position P1 and has a preferred cleavage sequence of Asp-Glu-Val-Asp- -.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by isatin sulfonamides.
GENATLAS Biochemistry:
caspase 7,effector,cysteine containing aspartate-specific protease,CASP3 subfamily,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis,H3,isoform alpha,interacting with calpain during B cell clonal deletion by apoptosis

Enzyme Numbers (IUBMB) for CASP7 Gene

Phenotypes From GWAS Catalog for CASP7 Gene

Gene Ontology (GO) - Molecular Function for CASP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 9525868
GO:0008233 peptidase activity IDA 19740745
GO:0008234 cysteine-type peptidase activity TAS 8567622
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CASP7: view
genes like me logo Genes that share phenotypes with CASP7: view

Animal Models for CASP7 Gene

MGI Knock Outs for CASP7:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP7

Clone Products

  • Addgene plasmids for CASP7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP7 Gene

Localization for CASP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP7 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 CASP7 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
extracellular 2
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CASP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17167422
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 8576161
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CASP7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CASP7 Gene

Pathways & Interactions for CASP7 Gene

genes like me logo Genes that share pathways with CASP7: view

SIGNOR curated interactions for CASP7 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CASP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 12888622
GO:0006915 apoptotic process TAS,IDA 17464193
GO:0007507 heart development IEA --
GO:0007568 aging IEA --
GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c TAS --
genes like me logo Genes that share ontologies with CASP7: view

Drugs & Compounds for CASP7 Gene

(50) Drugs for CASP7 Gene - From: DrugBank, PharmGKB, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3027
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2100
Vinorelbine Approved, Investigational Pharma 396

(21) Additional Compounds for CASP7 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CASP7 Gene

Compound Action Cas Number
Apoptosis Activator 2 Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 79183-19-0
Cisplatin Potent pro-apoptotic anticancer agent; activates caspase-3 15663-27-1
PAC 1 Activator of procaspase-3; pro-apoptotic 315183-21-2
PETCM Activator of caspase-3 10129-56-3
genes like me logo Genes that share compounds with CASP7: view

Transcripts for CASP7 Gene

Unigene Clusters for CASP7 Gene

Caspase 7, apoptosis-related cysteine peptidase:
Representative Sequences:

Clone Products

  • Addgene plasmids for CASP7

Alternative Splicing Database (ASD) splice patterns (SP) for CASP7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: - - - - - - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - -
SP8: - -

Relevant External Links for CASP7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CASP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP7 Gene

This gene is overexpressed in Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for CASP7 Gene

This gene is overexpressed in Skin (14.9) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASP7 Gene

Protein tissue co-expression partners for CASP7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASP7 Gene:


SOURCE GeneReport for Unigene cluster for CASP7 Gene:


mRNA Expression by UniProt/SwissProt for CASP7 Gene:

Tissue specificity: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain.

Evidence on tissue expression from TISSUES for CASP7 Gene

  • Lung(4.5)
  • Blood(4.4)
  • Skin(4.4)
  • Spleen(4.3)
  • Nervous system(3.5)
  • Intestine(2.6)
  • Kidney(2.1)
  • Liver(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CASP7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP7 Gene

Orthologs for CASP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CASP7 34 33
  • 99.4 (n)
(Bos Taurus)
Mammalia CASP7 34 33
  • 87.04 (n)
(Canis familiaris)
Mammalia CASP7 34 33
  • 86.38 (n)
(Rattus norvegicus)
Mammalia Casp7 33
  • 82.29 (n)
(Mus musculus)
Mammalia Casp7 16 34 33
  • 81.74 (n)
(Ornithorhynchus anatinus)
Mammalia CASP7 34
  • 65 (a)
(Monodelphis domestica)
Mammalia CASP7 34
  • 64 (a)
(Gallus gallus)
Aves CASP7 34 33
  • 68.33 (n)
(Anolis carolinensis)
Reptilia CASP7 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia casp7 33
  • 67.49 (n)
Str.16573 33
African clawed frog
(Xenopus laevis)
Amphibia xCaspase-7 33
(Danio rerio)
Actinopterygii casp7 34 33
  • 65.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dcp-1 34 35 33
  • 51.6 (n)
Ice 34 35
  • 34 (a)
decay 34 35
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta CASPS7 33
  • 50.93 (n)
(Caenorhabditis elegans)
Secernentea ced-3 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
-- 34
  • 43 (a)
-- 34
  • 40 (a)
-- 34
  • 39 (a)
-- 34
  • 38 (a)
-- 34
  • 36 (a)
-- 34
  • 35 (a)
-- 34
  • 33 (a)
-- 34
  • 31 (a)
-- 34
  • 22 (a)
Species where no ortholog for CASP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 CASP7 Gene

Gene Tree for CASP7 (if available)
Gene Tree for CASP7 (if available)
Evolutionary constrained regions (ECRs) for CASP7: view image

Paralogs for CASP7 Gene

Paralogs for CASP7 Gene

(24) SIMAP similar genes for CASP7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASP7: view

Variants for CASP7 Gene

Sequence variations from dbSNP and Humsavar for CASP7 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000004690 -- 113,723,828(+) C/T intron_variant
rs1000096353 -- 113,708,593(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000106779 -- 113,717,683(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000139701 -- 113,717,965(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000157495 -- 113,691,931(+) T/A/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CASP7 Gene

Variant ID Type Subtype PubMed ID
esv2741073 CNV deletion 23290073
esv3577738 CNV gain 25503493
esv3624603 CNV gain 21293372
esv3624607 CNV gain 21293372
nsv1048819 CNV gain 25217958
nsv1077637 CNV insertion 25765185
nsv1110676 CNV insertion 24896259
nsv1129502 CNV tandem duplication 24896259
nsv7211 OTHER inversion 18451855

Variation tolerance for CASP7 Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.24; 81.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASP7 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP7 Gene

Disorders for CASP7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CASP7 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 17
  • diabetes mellitus, insulin-dependent, 17
cardiomyopathy, familial hypertrophic, 1
  • cmh1
aleutian mink disease
  • aleutian disease
breast adenocarcinoma
  • adenocarcinoma of breast
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search CASP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASP7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CASP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP7 Gene

Publications for CASP7 Gene

  1. Polymorphisms and haplotypes in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer: a population-based, case-control study in a Chinese population. (PMID: 19531679) Xu HL … Shu XO (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 44 58
  2. Caspase 7 influences susceptibility to rheumatoid arthritis. (PMID: 17504820) García-Lozano JR … González-Escribano MF (Rheumatology (Oxford, England) 2007) 3 22 44 58
  3. ICE-LAP3, a novel mammalian homologue of the Caenorhabditis elegans cell death protein Ced-3 is activated during Fas- and tumor necrosis factor-induced apoptosis. (PMID: 8576161) Duan H … Dixit VM (The Journal of biological chemistry 1996) 2 3 4 58
  4. In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. (PMID: 8755496) Fernandes-Alnemri T … Alnemri ES (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58
  5. Identification and characterization of CPP32/Mch2 homolog 1, a novel cysteine protease similar to CPP32. (PMID: 8567622) Lippke JA … Su MS (The Journal of biological chemistry 1996) 3 4 22 58

Products for CASP7 Gene

  • Addgene plasmids for CASP7

Sources for CASP7 Gene

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