This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodeg... See more...

Aliases for CASP2 Gene

Aliases for CASP2 Gene

  • Caspase 2 2 3 5
  • ICH1 2 3 4
  • Neural Precursor Cell Expressed Developmentally Down-Regulated Protein 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 57 2 3
  • Protease ICH-1 3 4
  • EC 3.4.22.55 4 50
  • Caspase-2 3 4
  • PPP1R57 2 3
  • CASP-2 3 4
  • NEDD-2 3 4
  • NEDD2 3 4
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 2 2
  • Caspase 2, Apoptosis-Related Cysteine Peptidase 2
  • Caspase 2 Apoptosis-Related Cysteine Peptidase 3
  • MGC2181 2
  • CASP2 5

External Ids for CASP2 Gene

Previous HGNC Symbols for CASP2 Gene

  • NEDD2

Previous GeneCards Identifiers for CASP2 Gene

  • GC07P141311
  • GC07P142379
  • GC07P142456
  • GC07P142502
  • GC07P142695
  • GC07P142985
  • GC07P137322
  • GC07P143307
  • GC07P143317
  • GC07P144240
  • GC07P144375
  • GC07P144504
  • GC07P144746
  • GC07P143325
  • GC07P143356
  • GC07P143420
  • GC07P143552
  • GC07P143688
  • GC07P143823
  • GC07P143966
  • GC07P144098
  • GC07P144979
  • GC07P145234

Summaries for CASP2 Gene

Entrez Gene Summary for CASP2 Gene

  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for CASP2 Gene

CASP2 (Caspase 2) is a Protein Coding gene. Diseases associated with CASP2 include Bladder Transitional Cell Papilloma and Retinal Ischemia. Among its related pathways are Presenilin-Mediated Signaling and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and cysteine-type endopeptidase activity. An important paralog of this gene is CASP9.

UniProtKB/Swiss-Prot Summary for CASP2 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321).

Tocris Summary for CASP2 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 CASP2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASP2 Gene

Genomics for CASP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CASP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASP2

Top Transcription factor binding sites by QIAGEN in the CASP2 gene promoter:
  • AML1a
  • E47
  • Meis-1a
  • Meis-1b
  • Pax-4a
  • SRF
  • SRF (504 AA)
  • TBP
  • TFIID
  • ZIC2

Genomic Locations for CASP2 Gene

Latest Assembly
chr7:143,288,215-143,307,696
(GRCh38/hg38)
Size:
19,482 bases
Orientation:
Plus strand

Previous Assembly
chr7:142,985,444-143,004,789
(GRCh37/hg19 by Entrez Gene)
Size:
19,346 bases
Orientation:
Plus strand

chr7:142,985,308-143,004,789
(GRCh37/hg19 by Ensembl)
Size:
19,482 bases
Orientation:
Plus strand

Genomic View for CASP2 Gene

Genes around CASP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP2 Gene

Proteins for CASP2 Gene

  • Protein details for CASP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42575-CASP2_HUMAN
    Recommended name:
    Caspase-2
    Protein Accession:
    P42575
    Secondary Accessions:
    • A8K5F9
    • D3DXD6
    • E9PDN0
    • P42576
    • Q59F21
    • Q7KZL6
    • Q86UJ3
    • Q9BUP7
    • Q9BZK9
    • Q9BZL0

    Protein attributes for CASP2 Gene

    Size:
    452 amino acids
    Molecular mass:
    50685 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a p18 subunit and a p12 subunit (PubMed:12920126). Forms a complex named the PIDDosome with PIDD1 and CRADD (PubMed:9044836, PubMed:8985253, PubMed:15073321, PubMed:16652156). Interacts with NOL3 (via CARD domain); inhibits CASP2 activity in a phosphorylation-dependent manner (PubMed:9560245).
    SequenceCaution:
    • Sequence=AAA58959.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAO25653.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP22346.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP22349.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92877.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Acts as a positive regulator of apoptosis.
    • [Isoform 2]: Acts as a negative regulator of apoptosis.
    • [Isoform 3]: May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death.

    Three dimensional structures from OCA and Proteopedia for CASP2 Gene

    Alternative splice isoforms for CASP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP2 Gene

Selected DME Specific Peptides for CASP2 Gene

P42575:
  • LQNKPKMFFIQACRGDETDRGVDQ
  • LNLLPKRGP
  • GSFSQNVE
  • SPGCEESDA
  • HVADMLVKVN
  • DGKLLQLQE

Post-translational modifications for CASP2 Gene

  • The mature protease can process its own propeptide, but not that of other caspases.
  • Ubiquitination at Lys15 and Lys214
  • Modification sites at PhosphoSitePlus

Other Protein References for CASP2 Gene

Antibodies for research

Domains & Families for CASP2 Gene

Gene Families for CASP2 Gene

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

Protein Domains for CASP2 Gene

InterPro:
Blocks:
  • CARD interaction domain
  • Caspase-1, p20
  • Interleukin-1B converting enzyme signature

Suggested Antigen Peptide Sequences for CASP2 Gene

GenScript: Design optimal peptide antigens:
  • Protease ICH-1 (CASP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42575

UniProtKB/Swiss-Prot:

CASP2_HUMAN :
  • The CARD domain mediates a direct interaction with CRADD.
  • Belongs to the peptidase C14A family.
Domain:
  • The CARD domain mediates a direct interaction with CRADD.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP2: view

Function for CASP2 Gene

Molecular function for CASP2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Strict requirement for an Asp residue at P1, with 316-asp being essential for proteolytic activity and has a preferred cleavage sequence of Val-Asp-Val-Ala-Asp-|-.; EC=3.4.22.55;.
GENATLAS Biochemistry:
caspase 2,cysteine containing aspartate-specific protease,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,expressed in neural precursor cell,developmentally down-regulated,promoting apoptosis,Nedd 2 murine homolog,mammalian interleukin 1 beta convertase

Enzyme Numbers (IUBMB) for CASP2 Gene

Phenotypes From GWAS Catalog for CASP2 Gene

Gene Ontology (GO) - Molecular Function for CASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,NAS 11156409
GO:0005515 protein binding IPI 8985253
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 CASP2: view
genes like me logo Genes that share phenotypes with CASP2: view

Animal Models for CASP2 Gene

MGI Knock Outs for CASP2:

Animal Models for research

  • Taconic Biosciences Mouse Models for CASP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASP2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP2 Gene

Localization for CASP2 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 CASP2 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 18309324
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CASP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CASP2 Gene

Pathways & Interactions for CASP2 Gene

PathCards logo

SuperPathways for CASP2 Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.56
.55
.52
.46
.42
.35
2 Apoptosis Modulation and Signaling
.41
.35
.31
3 p75 NTR receptor-mediated signalling
4 Apoptosis and survival Caspase cascade
.44
.44
5 p53 Signaling
.45
genes like me logo Genes that share pathways with CASP2: view

Pathways by source for CASP2 Gene

3 Sino Biological pathways for CASP2 Gene
1 KEGG pathway for CASP2 Gene
4 GeneGo (Thomson Reuters) pathways for CASP2 Gene
  • Apoptosis and survival Apoptotic TNF-family pathways
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival TNFR1 signaling pathway
1 R&D Systems pathway for CASP2 Gene
17 Qiagen pathways for CASP2 Gene
  • 14-3-3 Induced Apoptosis
  • Apoptosis through Death Receptors
  • Caspase Cascade
  • Ceramide Pathway
  • DHA Signaling
1 Cell Signaling Technology pathway for CASP2 Gene
1 GeneTex pathway for CASP2 Gene

SIGNOR curated interactions for CASP2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001554 luteolysis IEA --
GO:0003407 neural retina development IEA --
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IBA,NAS 11156409
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IBA 21873635
genes like me logo Genes that share ontologies with CASP2: view

Drugs & Compounds for CASP2 Gene

(42) Drugs for CASP2 Gene - From: 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, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3624
Tasisulam Investigational Pharma 0
Z-VDVAD-FMK Pharma Inhibitor, Inhibition Caspase-2 inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable, Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 0
PETCM Pharma Caspase-3 activator, Activator of caspase-3 0

(24) Additional Compounds for CASP2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PAC 1
315183-21-2

(4) Tocris Compounds for CASP2 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

(3) ApexBio Compounds for CASP2 Gene

Compound Action Cas Number
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Tasisulam 519055-62-0
Z-VDVAD-FMK Caspase-2 inhibitor
genes like me logo Genes that share compounds with CASP2: view

Drug products for research

Transcripts for CASP2 Gene

mRNA/cDNA for CASP2 Gene

3 REFSEQ mRNAs :
22 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 CASP2

Alternative Splicing Database (ASD) splice patterns (SP) for CASP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ·
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: -
SP7: - -
SP8: -
SP9: - - - - - - -
SP10:

ExUns: 17c · 17d · 17e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CASP2 Gene

GeneLoc Exon Structure for
CASP2

Expression for CASP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CASP2 Gene

This gene is overexpressed in Blymphocyte (20.8), CD8 Tcells (11.1), Peripheral blood mononuclear cells (9.2), and Fetal ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASP2 Gene



Protein tissue co-expression partners for CASP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASP2

SOURCE GeneReport for Unigene cluster for CASP2 Gene:

Hs.368982

mRNA Expression by UniProt/SwissProt for CASP2 Gene:

P42575-CASP2_HUMAN
Tissue specificity: Expressed at higher levels in the embryonic lung, liver and kidney than in the heart and brain. In adults, higher level expression is seen in the placenta, lung, kidney, and pancreas than in the heart, brain, liver and skeletal muscle.

Evidence on tissue expression from TISSUES for CASP2 Gene

  • Nervous system(4.7)
  • Skin(4.5)
  • Spleen(4.5)
  • Intestine(2.6)
  • Blood(2.5)
  • Bone marrow(2.4)
  • Lymph node(2.3)
  • Lung(2.2)
  • Kidney(2.2)
  • Liver(2.2)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CASP2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP2 Gene

Orthologs for CASP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CASP2 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CASP2 29 30
  • 88.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Casp2 29
  • 86.36 (n)
Mouse
(Mus musculus)
Mammalia Casp2 29 16 30
  • 86.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CASP2 29 30
  • 84.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CASP2 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CASP2 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CASP2 29 30
  • 67.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CASP2 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486813 29
  • 56.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia xCaspase-2 29
Zebrafish
(Danio rerio)
Actinopterygii casp2 29 30
  • 55.18 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Nc 30
  • 19 (a)
ManyToMany
Dredd 30
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
CSA.5278 30
  • 31 (a)
OneToMany
Species where no ortholog for CASP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for CASP2 Gene

ENSEMBL:
Gene Tree for CASP2 (if available)
TreeFam:
Gene Tree for CASP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CASP2: view image
Alliance of Genome Resources:
Additional Orthologs for CASP2

Paralogs for CASP2 Gene

(6) SIMAP similar genes for CASP2 Gene using alignment to 2 proteins:

  • CASP2_HUMAN
  • C9JRR9_HUMAN
genes like me logo Genes that share paralogs with CASP2: view

Variants for CASP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASP2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
985938 Likely Pathogenic: Inborn genetic diseases 143,294,309(+) AAC/A
NM_032982.4(CASP2):c.560_561del (p.His187fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR
rs114290247 Benign: not provided 143,299,976(+) G/A
NM_032982.4(CASP2):c.801G>A (p.Thr267=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs142190608 Benign: not provided 143,304,717(+) C/T
NM_032982.4(CASP2):c.1161C>T (p.Ile387=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs143669356 Benign: not provided 143,299,937(+) A/G
NM_032982.4(CASP2):c.762A>G (p.Lys254=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs192384558 Benign: not provided 143,291,552(+) G/A
NM_032982.4(CASP2):c.87G>A (p.Val29=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CASP2 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 CASP2 Gene

Variant ID Type Subtype PubMed ID
nsv5984 CNV deletion 18451855
nsv831169 CNV loss 17160897

Variation tolerance for CASP2 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASP2 Gene

Human Gene Mutation Database (HGMD)
CASP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP2
Leiden Open Variation Database (LOVD)
CASP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP2 Gene

Disorders for CASP2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CASP2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bladder transitional cell papilloma
  • bladder papilloma
retinal ischemia
nonarteritic anterior ischemic optic neuropathy
  • nonarteritic anterior ischemic optic neuropathy, susceptibility to
dystrophinopathies
  • dystrophinopathy
temporal lobe epilepsy
  • epilepsy, temporal lobe
- elite association - COSMIC cancer census association via MalaCards
Search CASP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CASP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP2 Gene

Publications for CASP2 Gene

  1. Efficient cleavage of Bid and procaspase-7 by caspase-2 at lower pH. (PMID: 19075813) Karki P … Park IS (Protein and peptide letters 2008) 2 3 22
  2. Functional connection between p53 and caspase-2 is essential for apoptosis induced by DNA damage. (PMID: 16652156) Vakifahmetoglu H … Zhivotovsky B (Oncogene 2006) 3 4 22
  3. The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress. (PMID: 15073321) Tinel A … Tschopp J (Science (New York, N.Y.) 2004) 3 4 22
  4. Crystal structure of caspase-2, apical initiator of the intrinsic apoptotic pathway. (PMID: 12920126) Schweizer A … Grutter MG (The Journal of biological chemistry 2003) 3 4 22
  5. ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. (PMID: 9560245) Koseki T … Núñez G (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22

Products for CASP2 Gene

  • Addgene plasmids for CASP2

Sources for CASP2 Gene