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Aliases for CASP2 Gene

Aliases for CASP2 Gene

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

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
  • GC07P143325
  • GC07P143356
  • GC07P143420
  • GC07P143552
  • GC07P143688
  • GC07P143823

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 Gene Expression and Parkinsons Disease Pathway. 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 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.

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

Additional gene information for CASP2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP2 Gene

Genomics for CASP2 Gene

GeneHancer (GH) Regulatory Elements for CASP2 Gene

Promoters and enhancers for CASP2 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
GH07J143282 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 673.5 -1.7 -1668 7.1 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CASP2 GC07M143288 PIR32183 LOC105375545 TMEM139 LOC154761 RN7SL535P ZYX TRPV6
GH07J143378 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 57.4 +98.0 97979 15.9 MLX YBX1 YY1 ZNF213 ZNF143 SP3 MEF2D GLIS1 RCOR2 NR2C1 ZYX FAM131B CASP2 LOC154761 OR2A1 RN7SL535P EPHA1-AS1 EPHA1 TCAF2 HINT1P1
GH07J143898 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 20.5 +614.9 614941 9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 TCAF1 CASP2 ARHGEF35 OR2A13P OR2A25 OR2A12 ARHGEF34P OR2A2 OR2F1 LOC105375549
GH07J143262 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.8 -24.1 -24102 2.8 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B GSTK1 LOC154761 TCAF2 CASP2 TMEM139 LOC105375545 LOC105375546
GH07J143244 Enhancer 0.9 FANTOM5 Ensembl ENCODE 27 -42.9 -42919 1.3 MITF MCM7 PRDM6 ZNF266 FOSL2 GSTK1 CASP2 RN7SL535P FAM131B TMEM139 LOC105375545 LOC154761 LOC100507507 ZYX TCAF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASP2 gene promoter:

Genomic Locations for CASP2 Gene

Genomic Locations for CASP2 Gene
chr7:143,288,215-143,307,696
(GRCh38/hg38)
Size:
19,482 bases
Orientation:
Plus strand
chr7:142,985,308-143,004,789
(GRCh37/hg19)

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. Interacts with LRDD. Interacts with NOL3 (via CARD domain); inhibits CASP2 activity in a phosphorylation-dependent manner.
    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};

    Three dimensional structures from OCA and Proteopedia for CASP2 Gene

    Alternative splice isoforms for CASP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP2 Gene

Post-translational modifications for CASP2 Gene

  • The mature protease can process its own propeptide, but not that of other caspases.
  • Ubiquitination at posLast=214214
  • Modification sites at PhosphoSitePlus

Other Protein References for CASP2 Gene

No data available for DME Specific Peptides for CASP2 Gene

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

Suggested Antigen Peptide Sequences for CASP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42575

UniProtKB/Swiss-Prot:

CASP2_HUMAN :
  • Belongs to the peptidase C14A family.
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.
UniProtKB/Swiss-Prot CatalyticActivity:
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- -.
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 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 Model Products

  • Taconic Biosciences Mouse Models for CASP2

Clone Products

  • Addgene plasmids 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
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
golgi apparatus 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 IBA,IEA --
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

genes like me logo Genes that share pathways with CASP2: view

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 NAS 11156409
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with CASP2: view

Drugs & Compounds for CASP2 Gene

(41) 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, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
Tasisulam Investigational Pharma 0
Z-VDVAD-FMK Pharma Inhibition, Inhibitor 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 Activator Caspase-3 activator, Activator of caspase-3 0

(25) 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

Transcripts for CASP2 Gene

mRNA/cDNA for CASP2 Gene

Unigene Clusters for CASP2 Gene

Caspase 2, apoptosis-related cysteine peptidase:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
CASP2

Expression for CASP2 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of CASP2 Gene:

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(4.6)
  • Skin(4.3)
  • Spleen(4.2)
  • Blood(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with CASP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 33
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASP2 34 33
  • 88.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp2 33
  • 86.36 (n)
mouse
(Mus musculus)
Mammalia Casp2 16 34 33
  • 86.28 (n)
cow
(Bos Taurus)
Mammalia CASP2 34 33
  • 84.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASP2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP2 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP2 34 33
  • 67.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASP2 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486813 33
  • 56.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia xCaspase-2 33
zebrafish
(Danio rerio)
Actinopterygii casp2 34 33 33
  • 55.18 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nc 34
  • 19 (a)
ManyToMany
Dredd 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
CSA.5278 34
  • 31 (a)
OneToMany
Species where no ortholog for CASP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Paralogs for CASP2 Gene

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 from dbSNP and Humsavar for CASP2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000020690 -- 143,299,149(+) C/A/G intron_variant
rs1000560949 -- 143,290,424(+) A/C intron_variant
rs1000856564 -- 143,287,015(+) A/C upstream_transcript_variant
rs1001065771 -- 143,303,444(+) A/C intron_variant
rs1001150486 -- 143,299,535(+) A/G intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CASP2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CASP2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bladder transitional cell papilloma
  • bladder papilloma
retinal ischemia
saethre-chotzen syndrome
  • scs
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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 58
  3. 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 58
  4. Ich-1, an Ice/ced-3-related gene, encodes both positive and negative regulators of programmed cell death. (PMID: 8087842) Wang L … Yuan J (Cell 1994) 3 4 22 58
  5. Mutational analysis of caspase genes in prostate carcinomas. (PMID: 20402676) Kim MS … Lee SH (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2010) 3 44 58

Products for CASP2 Gene

  • Addgene plasmids for CASP2

Sources for CASP2 Gene

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