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. This prote... See more...

Aliases for CASP9 Gene

Aliases for CASP9 Gene

  • Caspase 9 2 3 5
  • Caspase 9, Apoptosis-Related Cysteine Peptidase 2 3
  • Protein Phosphatase 1, Regulatory Subunit 56 2 3
  • ICE-Like Apoptotic Protease 6 3 4
  • Caspase-9 3 4
  • ICE-LAP6 3 4
  • APAF-3 3 4
  • MCH6 3 4
  • Caspase 9, Apoptosis-Related Cysteine Protease 2
  • Apoptotic Protease Activating Factor 3 3
  • Apoptotic Protease-Activating Factor 3 4
  • Apoptotic Protease MCH-6 3
  • Apoptotic Protease Mch-6 4
  • EC 3.4.22.62 4
  • PPP1R56 3
  • CASP-9 4
  • APAF3 3

External Ids for CASP9 Gene

Previous GeneCards Identifiers for CASP9 Gene

  • GC01M015216
  • GC01M014997
  • GC01M015086
  • GC01M015181
  • GC01M015565
  • GC01M015688
  • GC01M015814
  • GC01M014338

Summaries for CASP9 Gene

Entrez Gene Summary for CASP9 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. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for CASP9 Gene

CASP9 (Caspase 9) is a Protein Coding gene. Diseases associated with CASP9 include Thoracic Cancer and Ischemia. Among its related pathways are PI3K/AKT activation and Development IGF-1 receptor signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and peptidase activity. An important paralog of this gene is CASP8.

UniProtKB/Swiss-Prot Summary for CASP9 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP).
  • Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.

Tocris Summary for CASP9 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 CASP9 Gene

Additional gene information for CASP9 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASP9 Gene

Genomics for CASP9 Gene

GeneHancer (GH) Regulatory Elements for CASP9 Gene

Promoters and enhancers for CASP9 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
GH01J015522 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 770.2 +1.2 1215 5.9 SP1 ZBTB40 SREBF1 LCORL FOXA1 RBPJ SMARCE1 POLR2A USF2 NR2F6 CASP9 DNAJC16 lnc-CASP9-4 SPEN ENSG00000237938 ZBTB17 AGMAT ENSG00000178715 CROCCP3 RPL22P3
GH01J015678 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14 -155.9 -155946 8.2 ZBTB40 POLR2A ZNF362 HLF L3MBTL2 MNT TEAD4 NKRF ELF3 ZFX PLEKHM2 ENSG00000271742 CROCCP3 LINC01772 CASP9 SLC25A34 SPEN SZRD1 HSPB7 ZBTB17
GH01J015583 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.9 -58.3 -58250 1.9 CTCF MLX RBPJ POLR2A NR2F1 NR2F6 MIXL1 MYC MAX MNT AGMAT CASP9 piR-39114 DNAJC16
GH01J015515 Enhancer 1 Ensembl ENCODE dbSUPER 18.9 +11.1 11133 2 SMARCE1 ETV6 L3MBTL2 IKZF1 RFX1 PKNOX1 HDAC1 LEF1 NKRF MTA2 AGMAT CASP9 lnc-CASP9-4 CELA2B
GH01J015507 Enhancer 1 FANTOM5 Ensembl ENCODE 19 +18.0 18033 3 POU5F1 SP1 CBFA2T2 POLR2A NCOR1 TCF12 ETS1 KDM1A TAL1 BACH1 AGMAT CASP9 lnc-CASP9-4 CELA2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASP9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASP9 gene promoter:
  • FOXO4
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • POU2F1
  • POU2F1a
  • RelA
  • Sp1

Genomic Locations for CASP9 Gene

Genomic Locations for CASP9 Gene
chr1:15,490,832-15,526,534
(GRCh38/hg38)
Size:
35,703 bases
Orientation:
Minus strand
chr1:15,817,327-15,853,029
(GRCh37/hg19)
Size:
35,703 bases
Orientation:
Minus strand

Genomic View for CASP9 Gene

Genes around CASP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP9 Gene

Proteins for CASP9 Gene

  • Protein details for CASP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55211-CASP9_HUMAN
    Recommended name:
    Caspase-9
    Protein Accession:
    P55211
    Secondary Accessions:
    • B4E1A3
    • O95348
    • Q53Y70
    • Q5JRU9
    • Q5UGI1
    • Q92852
    • Q9BQ62
    • Q9UEQ3
    • Q9UIJ8

    Protein attributes for CASP9 Gene

    Size:
    416 amino acids
    Molecular mass:
    46281 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 35 kDa (p35) and a 10 kDa (p10) subunit. Caspase-9 and APAF1 bind to each other via their respective NH2-terminal CED-3 homologous domains in the presence of cytochrome C and ATP. Interacts (inactive form) with EFHD2. Interacts with HAX1. Interacts with BIRC2/c-IAP1, XIAP/BIRC4, BIRC5/survivin, BIRC6/bruce and BIRC7/livin. Interacts with ABL1 (via SH3 domain); the interaction is direct and increases in the response of cells to genotoxic stress and ABL1/c-Abl activation. Interacts with NleF from pathogenic E.coli.

    Three dimensional structures from OCA and Proteopedia for CASP9 Gene

    Alternative splice isoforms for CASP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP9 Gene

Post-translational modifications for CASP9 Gene

  • Cleavages at Asp-315 by granzyme B and at Asp-330 by caspase-3 generate the two active subunits. Caspase-8 and -10 can also be involved in these processing events.
  • Phosphorylated at Thr-125 by MAPK1/ERK2. Phosphorylation at Thr-125 is sufficient to block caspase-9 processing and subsequent caspase-3 activation. Phosphorylation on Tyr-153 by ABL1/c-Abl; occurs in the response of cells to DNA damage.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CASP9 Gene

Domains & Families for CASP9 Gene

Gene Families for CASP9 Gene

Suggested Antigen Peptide Sequences for CASP9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57472, highly similar to Caspase-9 (EC 3.4.22.-) (B4E1A3_HUMAN)
  • ICE-like apoptotic protease 6 (CASP9_HUMAN)
  • Caspase 9, apoptosis-related cysteine peptidase (Q5JRU3_HUMAN)
  • Caspase 9 splice variant (Q5UGI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55211

UniProtKB/Swiss-Prot:

CASP9_HUMAN :
  • Belongs to the peptidase C14A family.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP9: view

Function for CASP9 Gene

Molecular function for CASP9 Gene

UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP).
UniProtKB/Swiss-Prot Function:
Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Strict requirement for an Asp residue at position P1 and with a marked preference for His at position P2. It has a preferred cleavage sequence of Leu-Gly-His-Asp- -Xaa.; EC=3.4.22.62; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the effector protein NleF that is produced by pathogenic E.coli; this inhibits apoptosis.
GENATLAS Biochemistry:
caspase 9,cysteine containing aspartate specific protease,widely expressed,activated by APAF1-cytochrome c multimeric complex,then initiating the apoptotic protease cascade by activating CASP3

Enzyme Numbers (IUBMB) for CASP9 Gene

Phenotypes From GWAS Catalog for CASP9 Gene

Gene Ontology (GO) - Molecular Function for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 9922454
GO:0008047 enzyme activator activity TAS 9390557
GO:0008233 peptidase activity IDA,IEA 19740745
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CASP9: view
genes like me logo Genes that share phenotypes with CASP9: view

Animal Models for CASP9 Gene

MGI Knock Outs for CASP9:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for CASP9

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP9 Gene

Localization for CASP9 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 CASP9 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0032991 protein-containing complex IDA 11821383
genes like me logo Genes that share ontologies with CASP9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CASP9 Gene

Pathways & Interactions for CASP9 Gene

genes like me logo Genes that share pathways with CASP9: view

Pathways by source for CASP9 Gene

2 R&D Systems pathways for CASP9 Gene
3 Tocris pathways for CASP9 Gene
41 Qiagen pathways for CASP9 Gene
  • 14-3-3 Induced Apoptosis
  • Akt Signaling
  • all-trans-Retinoic Acid Mediated Apoptosis
  • Angiopoietin-TIE2 Signaling
  • Apoptosis through Death Receptors
1 Cell Signaling Technology pathway for CASP9 Gene
3 GeneTex pathways for CASP9 Gene

SIGNOR curated interactions for CASP9 Gene

Gene Ontology (GO) - Biological Process for CASP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0002931 response to ischemia IEA --
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IEA,TAS 8663294
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
genes like me logo Genes that share ontologies with CASP9: view

Drugs & Compounds for CASP9 Gene

(99) Drugs for CASP9 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 3240
Tasisulam Investigational Pharma 0
Z-LEHD-FMK Pharma Inhibition, Inhibitor Irreversible Caspase-9 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
Gambogic acid Pharma Caspase activator and apoptosis inducer 0

(74) Additional Compounds for CASP9 Gene - From: Novoseek and Tocris

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

(4) Tocris Compounds for CASP9 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

(11) ApexBio Compounds for CASP9 Gene

Compound Action Cas Number
Ac-LEHD-AFC Fluorogenic caspase substrate 210345-03-2
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
Caspase-9 Inhibitor Z-LEHD-FMK Novel and selective caspase-9 inhibitor
Cisplatin Inhibits DNA synthesis,chemotherapy drug 15663-27-1
Gambogic Acid Caspase activator and apoptosis inducer 2752-65-0
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-LEHD-FMK Irreversible Caspase-9 inhibitor. 210345-04-3
Z-VAD-FMK Cell-permeable, irreversible pan-caspase inhibitor 187389-52-2
genes like me logo Genes that share compounds with CASP9: view

Transcripts for CASP9 Gene

mRNA/cDNA for CASP9 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for CASP9

Alternative Splicing Database (ASD) splice patterns (SP) for CASP9 Gene

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

Relevant External Links for CASP9 Gene

GeneLoc Exon Structure for
CASP9
ECgene alternative splicing isoforms for
CASP9

Expression for CASP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP9 Gene

This gene is overexpressed in Ovary (x4.0).

Protein differential expression in normal tissues from HIPED for CASP9 Gene

This gene is overexpressed in Plasma (28.6), Peripheral blood mononuclear cells (12.0), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CASP9 Gene



Protein tissue co-expression partners for CASP9 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASP9 Gene:

CASP9

SOURCE GeneReport for Unigene cluster for CASP9 Gene:

Hs.329502

mRNA Expression by UniProt/SwissProt for CASP9 Gene:

P55211-CASP9_HUMAN
Tissue specificity: Ubiquitous, with highest expression in the heart, moderate expression in liver, skeletal muscle, and pancreas. Low levels in all other tissues. Within the heart, specifically expressed in myocytes.

Evidence on tissue expression from TISSUES for CASP9 Gene

  • Blood(4.5)
  • Kidney(4.5)
  • Eye(4.4)
  • Nervous system(3.5)
  • Intestine(2.9)
  • Heart(2.7)
  • Liver(2.7)
  • Lung(2.7)
  • Muscle(2.6)
  • Adrenal gland(2.5)
  • Stomach(2.2)
  • Skin(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with CASP9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP9 Gene

Orthologs for CASP9 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASP9 33 32
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CASP9 33 32
  • 83.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASP9 33 32
  • 82.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp9 32
  • 82.13 (n)
mouse
(Mus musculus)
Mammalia Casp9 17 33 32
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia CASP9 33
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASP9 33
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASP9 33 32
  • 63.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASP9 33
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia casp9-A 32
zebrafish
(Danio rerio)
Actinopterygii casp9 33 32
  • 55.7 (n)
OneToOne
Dr.16035 32
fruit fly
(Drosophila melanogaster)
Insecta Nc 33
  • 21 (a)
ManyToMany
Dredd 33
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ced-3 33
  • 23 (a)
ManyToMany
Species where no ortholog for CASP9 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CASP9 Gene

ENSEMBL:
Gene Tree for CASP9 (if available)
TreeFam:
Gene Tree for CASP9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CASP9: view image

Paralogs for CASP9 Gene

(6) SIMAP similar genes for CASP9 Gene using alignment to 7 proteins:

  • CASP9_HUMAN
  • F8VVS7_HUMAN
  • F8VWA5_HUMAN
  • H0Y3S8_HUMAN
  • H0Y6Y2_HUMAN
  • Q5JRU2_HUMAN
  • Q5JRU8_HUMAN
genes like me logo Genes that share paralogs with CASP9: view

Variants for CASP9 Gene

Sequence variations from dbSNP and Humsavar for CASP9 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000025870 -- 15,506,728(-) C/T intron_variant
rs1000046782 -- 15,513,875(-) G/C intron_variant
rs1000143600 -- 15,518,980(-) T/G intron_variant
rs1000158133 -- 15,520,293(-) G/A intron_variant
rs1000200065 -- 15,502,365(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CASP9 Gene

Variant ID Type Subtype PubMed ID
nsv1076153 CNV deletion 25765185
nsv1126181 CNV deletion 24896259
nsv833536 CNV loss 17160897
nsv954814 CNV deletion 24416366

Variation tolerance for CASP9 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASP9 Gene

Human Gene Mutation Database (HGMD)
CASP9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP9 Gene

Disorders for CASP9 Gene

MalaCards: The human disease database

(31) MalaCards diseases for CASP9 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thoracic cancer
  • thoracic tumor
ischemia
  • acute coronary syndrome
brain meningioma
  • intracranial meningioma
chronic mountain sickness
  • chronic mountain sickness, susceptibility to
inflammatory bowel disease 7
  • ibd7
- elite association - COSMIC cancer census association via MalaCards
Search CASP9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASP9

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 CASP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP9 Gene

Publications for CASP9 Gene

  1. CASP-9: A susceptibility locus for multiple sclerosis in Italy. (PMID: 19359048) Andreoli V … Quattrone A (Journal of neuroimmunology 2009) 3 23 43 56
  2. Caspase 9 promoter polymorphisms and risk of primary lung cancer. (PMID: 16687442) Park JY … Jung TH (Human molecular genetics 2006) 3 23 43 56
  3. c-Abl tyrosine kinase regulates caspase-9 autocleavage in the apoptotic response to DNA damage. (PMID: 15657060) Raina D … Kufe D (The Journal of biological chemistry 2005) 3 4 23 56
  4. Inhibition of caspase-9 through phosphorylation at Thr 125 by ERK MAPK. (PMID: 12792650) Allan LA … Clarke PR (Nature cell biology 2003) 3 4 23 56
  5. A caspase-9 variant missing the catalytic site is an endogenous inhibitor of apoptosis. (PMID: 9890966) Seol DW … Billiar TR (The Journal of biological chemistry 1999) 3 4 23 56

Products for CASP9 Gene

  • Addgene plasmids for CASP9