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Aliases for CASP3 Gene

Aliases for CASP3 Gene

  • Caspase 3 2 3 5
  • Caspase 3, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 3, Apoptosis-Related Cysteine Protease 2 3
  • SREBP Cleavage Activity 1 3 4
  • Cysteine Protease CPP32 3 4
  • Protein Yama 3 4
  • EC 3.4.22.56 4 58
  • Apopain 3 4
  • CASP-3 3 4
  • CPP-32 3 4
  • CPP32 3 4
  • SCA-1 3 4
  • PARP Cleavage Protease 3
  • Procaspase3 3
  • Caspase-3 3
  • EC 3.4.22 58
  • CPP32B 3

External Ids for CASP3 Gene

Previous GeneCards Identifiers for CASP3 Gene

  • GC04M186576
  • GC04M186228
  • GC04M186133
  • GC04M186244
  • GC04M185924
  • GC04M185785
  • GC04M185548
  • GC04M181303

Summaries for CASP3 Gene

Entrez Gene Summary for CASP3 Gene

  • The protein encoded by this gene is a cysteine-aspartic acid protease that plays a central role in the execution-phase of cell apoptosis. The encoded protein cleaves and inactivates poly(ADP-ribose) polymerase while it cleaves and activates sterol regulatory element binding proteins as well as caspases 6, 7, and 9. This protein itself is processed by caspases 8, 9, and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. [provided by RefSeq, Aug 2017]

GeneCards Summary for CASP3 Gene

CASP3 (Caspase 3) is a Protein Coding gene. Diseases associated with CASP3 include Lung Cancer and Nervous System Cancer. Among its related pathways are AGE/RAGE pathway and p75 NTR receptor-mediated signalling. GO annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is CASP7.

UniProtKB/Swiss-Prot for CASP3 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a 216-Asp- -Gly-217 bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage.

Tocris Summary for CASP3 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 CASP3 Gene

Additional gene information for CASP3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP3 Gene

Genomics for CASP3 Gene

Regulatory Elements for CASP3 Gene

Enhancers for CASP3 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
GH04H184287 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +361.1 361140 2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B ZNF143 ZNF207 ATF7 RUNX3 JUNB CASP3 IRF2 ENSG00000251878 PRIMPOL LINC02363 MYL12BP2 ENPP6 CENPU LOC105377582 RN7SL28P
GH04H184265 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13 +382.2 382217 3 HDGF PKNOX1 ATF1 SIN3A ARID4B ZNF766 ZNF143 FOS ATF7 RUNX3 IRF2 MYL12BP2 CASP3 TRAPPC11 ENSG00000251878 PRIMPOL LINC02363 LOC105377584 RN7SL28P
GH04H184684 1.6 FANTOM5 Ensembl ENCODE 14.8 -35.3 -35266 1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 ZNF592 SNIP1 PRIMPOL CASP3 CENPU IRF2 GC04P184696
GH04H184342 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +303.0 303038 8 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 LINC02363 IRF2 ENSG00000251878 PRIMPOL CASP3 CFAP97 ACSL1 GC04P184303
GH04H184470 1.7 FANTOM5 ENCODE dbSUPER 11.7 +175.5 175529 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 TRAPPC11 PRIMPOL CASP3 SNX25 ACSL1 IRF2 ENSG00000270426
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASP3 on UCSC Golden Path with GeneCards custom track

Promoters for CASP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000176954 209 2601 HDGF ZFP64 ARID4B SIN3A ZNF143 RUNX3 SP3 SP5 REST ZNF518A

Genomic Location for CASP3 Gene

Chromosome:
4
Start:
184,627,696 bp from pter
End:
184,649,509 bp from pter
Size:
21,814 bases
Orientation:
Minus strand

Genomic View for CASP3 Gene

Genes around CASP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP3 Gene

Proteins for CASP3 Gene

  • Protein details for CASP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42574-CASP3_HUMAN
    Recommended name:
    Caspase-3
    Protein Accession:
    P42574
    Secondary Accessions:
    • A8K5M2
    • D3DP53
    • Q96AN1
    • Q96KP2

    Protein attributes for CASP3 Gene

    Size:
    277 amino acids
    Molecular mass:
    31608 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 17 kDa (p17) and a 12 kDa (p12) subunit. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for CASP3 Gene

neXtProt entry for CASP3 Gene

Selected DME Specific Peptides for CASP3 Gene

P42574:
  • SYKMDYPEMG
  • GSWFIQSLCAMLK
  • MHILTRVNRKVA
  • PGYYSWR
  • GSWFIQSLC
  • CIIINNKNFHKSTGM
  • IIQACRG
  • GTDVDAANLRETF
  • EDHSKRSSF
  • IQACRGTELD
  • IPVEADFLYAYST
  • SVDSKSI
  • CVLLSHG
  • CIIINNKNF

Post-translational modifications for CASP3 Gene

  • Cleavage by granzyme B, caspase-6, caspase-8 and caspase-10 generates the two active subunits. Additional processing of the propeptides is likely due to the autocatalytic activity of the activated protease. Active heterodimers between the small subunit of caspase-7 protease and the large subunit of caspase-3 also occur and vice versa.
  • S-nitrosylated on its catalytic site cysteine in unstimulated human cell lines and denitrosylated upon activation of the Fas apoptotic pathway, associated with an increase in intracellular caspase activity. Fas therefore activates caspase-3 not only by inducing the cleavage of the caspase zymogen to its active subunits, but also by stimulating the denitrosylation of its active site thiol.
  • Ubiquitination at posLast=229229
  • Modification sites at PhosphoSitePlus

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for CASP3

Domains & Families for CASP3 Gene

Gene Families for CASP3 Gene

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

Suggested Antigen Peptide Sequences for CASP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42574

UniProtKB/Swiss-Prot:

CASP3_HUMAN :
  • Belongs to the peptidase C14A family.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP3: view

Function for CASP3 Gene

Molecular function for CASP3 Gene

GENATLAS Biochemistry:
caspase 3,effector,cysteine containing aspartate-specific protease CPP32,activated by CASP9,cleaving specifically CDKN1A,alpha-fodrin (SPTAN1), gelsolin (GSN),stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting CD95/APO1/fas mediated apoptosis,homolog to C elegans Ced-3 and mammalian interleukin 1 beta convertase (IL1BC),including two isoforms alpha and beta
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for an Asp residue at positions P1 and P4. It has a preferred cleavage sequence of Asp-Xaa-Xaa-Asp- - with a hydrophobic amino-acid residue at P2 and a hydrophilic amino-acid residue at P3, although Val or Ala are also accepted at this position.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by isatin sulfonamides.
UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a 216-Asp- -Gly-217 bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage.

Enzyme Numbers (IUBMB) for CASP3 Gene

Phenotypes From GWAS Catalog for CASP3 Gene

Gene Ontology (GO) - Molecular Function for CASP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0004190 aspartic-type endopeptidase activity EXP 9796814
GO:0004197 cysteine-type endopeptidase activity TAS,IEA --
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IEA --
GO:0005123 death receptor binding IEA --
genes like me logo Genes that share ontologies with CASP3: view
genes like me logo Genes that share phenotypes with CASP3: view

Animal Models for CASP3 Gene

MGI Knock Outs for CASP3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASP3
  • Applied Biological Materials Clones for CASP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP3 Gene

Localization for CASP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP3 Gene

Cytoplasm.

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 CASP3 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 4
extracellular 3
cytoskeleton 3
endoplasmic reticulum 3
peroxisome 2
lysosome 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17167422
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CASP3: view

Pathways & Interactions for CASP3 Gene

SuperPathways for CASP3 Gene

genes like me logo Genes that share pathways with CASP3: view

Pathways by source for CASP3 Gene

SIGNOR curated interactions for CASP3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CASP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001782 B cell homeostasis IEA --
GO:0006309 apoptotic DNA fragmentation TAS --
GO:0006508 proteolysis IDA,IEA 12888622
GO:0006915 apoptotic process IEA,IMP 15565177
genes like me logo Genes that share ontologies with CASP3: view

Drugs & Compounds for CASP3 Gene

(93) Drugs for CASP3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Minocycline Approved, Investigational Pharma Target, negative modulator 236
(1S)-1-(3-chlorophenyl)-2-oxo-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate Experimental Pharma Target 0
(1S)-2-oxo-1-phenyl-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate Experimental Pharma Target 0
[N-(3-DIBENZYLCARBAMOYL-OXIRANECARBONYL)-HYDRAZINO]-ACETIC ACID Experimental Pharma Target 0

(71) Additional Compounds for CASP3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 101
110044-82-1

(3) Tocris Compounds for CASP3 Gene

Compound Action Cas Number
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 101 Calpain inhibitor; activates p53-dependent apoptosis 110044-82-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(19) ApexBio Compounds for CASP3 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Apoptosis Inhibitor Associate with caspase-3 inhibition 54135-60-3
AZ 10417808 Caspase-3 inhibitor,selective non-peptide 331645-84-2
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
Caspase Inhibitor Set I Caspase Inhibitors
Caspase-3/7 Inhibitor I Caspase-3/7 inhibitor 220509-74-0
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Emricasan 254750-02-2
Gambogic Acid Caspase activator and apoptosis inducer 2752-65-0
Ivachtin Caspase-3 inhibitor 745046-84-8
PAC-1 Procaspase-3 activator 315183-21-2
PETCM Caspase-3 activator 10129-56-3
Q-VD(OMe)-OPh Pan-caspase inhibitor
Q-VD-OPh hydrate Cell-permeable, irreversible pan-caspase inhibitor 1135695-98-5
Tasisulam 519055-62-0
Z-DEVD-FMK Caspase-3 inhibitor 210344-95-9
Z-DQMD-FMK Caspase-3 inhibitor,cell-permeable
Z-FA-FMK Cysteine proteases inhibitor
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
genes like me logo Genes that share compounds with CASP3: view

Drug Products

Transcripts for CASP3 Gene

Unigene Clusters for CASP3 Gene

Caspase 3, apoptosis-related cysteine peptidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASP3
  • Applied Biological Materials Clones for CASP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CASP3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: -
SP2: - - -
SP3: -
SP4: -

Relevant External Links for CASP3 Gene

GeneLoc Exon Structure for
CASP3
ECgene alternative splicing isoforms for
CASP3

Expression for CASP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CASP3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.2) and Nasal epithelium (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASP3 Gene



Protein tissue co-expression partners for CASP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASP3 Gene:

CASP3

SOURCE GeneReport for Unigene cluster for CASP3 Gene:

Hs.141125

mRNA Expression by UniProt/SwissProt for CASP3 Gene:

P42574-CASP3_HUMAN
Tissue specificity: Highly expressed in lung, spleen, heart, liver and kidney. Moderate levels in brain and skeletal muscle, and low in testis. Also found in many cell lines, highest expression in cells of the immune system.

Evidence on tissue expression from TISSUES for CASP3 Gene

  • Blood(4.7)
  • Nervous system(4.6)
  • Heart(3.5)
  • Intestine(3.5)
  • Lung(3.5)
  • Liver(3.4)
  • Muscle(3.4)
  • Kidney(3.1)
  • Adrenal gland(2.9)
  • Eye(2.9)
  • Skin(2.9)
  • Stomach(2.9)
  • Bone marrow(2.8)
  • Pancreas(2.8)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Bone(2.3)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with CASP3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP3 Gene

Orthologs for CASP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASP3 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia CASP3 33 34
  • 89.53 (n)
cow
(Bos Taurus)
Mammalia CASP3 33 34
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Casp3 33
  • 84.84 (n)
mouse
(Mus musculus)
Mammalia Casp3 33 16 34
  • 83.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CASP3 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP3 33 34
  • 70.76 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia casp3 33
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii casp3a 34
  • 55 (a)
OneToMany
casp3b 34
  • 53 (a)
OneToMany
casp3 33
African malaria mosquito
(Anopheles gambiae)
Insecta CASPS8 33
  • 45.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ice 35 34
  • 42 (a)
decay 35 34
  • 37 (a)
Dcp-1 34 35
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
Species where no ortholog for CASP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CASP3 Gene

ENSEMBL:
Gene Tree for CASP3 (if available)
TreeFam:
Gene Tree for CASP3 (if available)

Paralogs for CASP3 Gene

Paralogs for CASP3 Gene

(6) SIMAP similar genes for CASP3 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CASP3 Gene

genes like me logo Genes that share paralogs with CASP3: view

Variants for CASP3 Gene

Sequence variations from dbSNP and Humsavar for CASP3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000212547 -- 184,644,874(+) CCTGT(C/G)CTACA intron-variant
rs1000254586 -- 184,636,386(+) GATTA(C/T)AGTTG intron-variant
rs1000427285 -- 184,642,352(+) TTTTA(A/G)GGCAG intron-variant
rs1000493001 -- 184,650,206(+) TTAAT(C/G)CACAT intron-variant, upstream-variant-2KB
rs1000709111 -- 184,638,950(+) TATTC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP3 Gene

Variant ID Type Subtype PubMed ID
esv2763423 CNV loss 21179565
nsv1026074 CNV gain 25217958
nsv477526 CNV novel sequence insertion 20440878
nsv830168 CNV loss 17160897

Variation tolerance for CASP3 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP3 Gene

Human Gene Mutation Database (HGMD)
CASP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP3 Gene

Disorders for CASP3 Gene

MalaCards: The human disease database

(99) MalaCards diseases for CASP3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, protection against
nervous system cancer
  • malignant neoplasm of nervous system
chronic myelocytic leukemia
  • cml
huntington disease
  • huntington's disease
retinal ischemia
- elite association - COSMIC cancer census association via MalaCards
Search CASP3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP3

Genetic Association Database (GAD)
CASP3
Human Genome Epidemiology (HuGE) Navigator
CASP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP3
genes like me logo Genes that share disorders with CASP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP3 Gene

Publications for CASP3 Gene

  1. Structure of recombinant human CPP32 in complex with the tetrapeptide acetyl-Asp-Val-Ala-Asp fluoromethyl ketone. (PMID: 9045680) Mittl PR … Grütter MG (The Journal of biological chemistry 1997) 3 4 22 60
  2. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. (PMID: 8696339) Goldberg YP … Hayden MR (Nature genetics 1996) 3 4 22 60
  3. CPP32, a novel human apoptotic protein with homology to Caenorhabditis elegans cell death protein Ced-3 and mammalian interleukin-1 beta-converting enzyme. (PMID: 7983002) Fernandes-Alnemri T … Alnemri ES (The Journal of biological chemistry 1994) 3 4 22 60
  4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 45 60
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60

Products for CASP3 Gene

  • Addgene plasmids for CASP3

Sources for CASP3 Gene

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