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CASP6 Gene(Protein Coding)

Caspase 6

GCID:
GC04M109688
GIFtS:
70
Genes Participants
UDN Logo

Aliases for CASP6 Gene

Aliases for CASP6 Gene

  • Caspase 6 2 3 5
  • Caspase 6, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 6, Apoptosis-Related Cysteine Protease 2 3
  • EC 3.4.22.59 4 61
  • MCH2 3 4
  • Apoptotic Protease MCH-2 3
  • Apoptotic Protease Mch-2 4
  • Caspase-6 3
  • EC 3.4.22 61
  • CASP-6 4

External Ids for CASP6 Gene

Previous GeneCards Identifiers for CASP6 Gene

  • GC04M111026
  • GC04M110880
  • GC04M111068
  • GC04M110967
  • GC04M110829
  • GC04M110609
  • GC04M106342

Summaries for CASP6 Gene

Entrez Gene Summary for CASP6 Gene

  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. 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 acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]

GeneCards Summary for CASP6 Gene

CASP6 (Caspase 6) is a Protein Coding gene. Diseases associated with CASP6 include Dystrophinopathies. Among its related pathways are TRAF Pathway and Apoptosis and survival Caspase cascade. GO annotations related to this gene include identical protein binding and cysteine-type peptidase activity. An important paralog of this gene is CASP3.

UniProtKB/Swiss-Prot for CASP6 Gene

  • Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Tocris Summary for CASP6 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 CASP6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP6 Gene

Genomics for CASP6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CASP6 Gene

Enhancers for CASP6 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
GH04G109701 1.6 FANTOM5 ENCODE dbSUPER 4.6 +10.9 10882 3.6 PKNOX1 AGO1 ARID4B SIN3A YBX1 FEZF1 ZNF2 ZNF766 FOS KLF13 PLA2G12A CASP6 RBMXP4 LRIT3 GC04M109692 GC04M109713
GH04G109727 1.3 ENCODE dbSUPER 4.5 -15.9 -15850 4.2 HDGF PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 GTF3C2 PLA2G12A SEC24B SEC24B-AS1 CDC42P4 CFI SETP20 GAR1 CASP6
GH04G109648 0.6 ENCODE 5.2 +64.3 64253 2.7 JUND NFIC ARID3A MTA2 NFIB JUNB ZNF507 PLA2G12A CASP6 HIGD1AP14 GC04P109564
GH04G109713 0.6 dbSUPER 0.7 -0.1 -85 1.8 PRDM6 RNF2 SUZ12 HLF CBX2 EZH2 CFI CASP6 PLA2G12A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASP6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CASP6 gene promoter:

Genomic Location for CASP6 Gene

Chromosome:
4
Start:
109,688,622 bp from pter
End:
109,713,904 bp from pter
Size:
25,283 bases
Orientation:
Minus strand

Genomic View for CASP6 Gene

Genes around CASP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CASP6 Gene

Proteins for CASP6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CASP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55212-CASP6_HUMAN
    Recommended name:
    Caspase-6
    Protein Accession:
    P55212
    Secondary Accessions:
    • Q9BQE7

    Protein attributes for CASP6 Gene

    Size:
    293 amino acids
    Molecular mass:
    33310 Da
    Quaternary structure:
    • Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 18 kDa (p18) and a 11 kDa (p11) subunit. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for CASP6 Gene

    Alternative splice isoforms for CASP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASP6 Gene

Protein Expression for CASP6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CASP6 Gene

P55212:
  • CVFLSHGEGNH
  • GSSLEFTELLTLVNRKVSQRRVDFC
  • IIQACRG
  • ALIFNHE
  • LVGKPKIF
  • SLVGKPKIFIIQACRG
  • AIGKKQVPCFASMLTKKLHF

Post-translational modifications for CASP6 Gene

  • Cleavages by caspase-3, caspase-8 or -10 generate the two active subunits.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CASP6 Gene

Gene Families for CASP6 Gene

HGNC:
IUPHAR :

Protein Domains for CASP6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CASP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55212

UniProtKB/Swiss-Prot:

CASP6_HUMAN :
  • Belongs to the peptidase C14A family.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP6: view

Function for CASP6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CASP6 Gene

GENATLAS Biochemistry:
caspase 6,effector,cysteine containing aspartate-specific protease,CASP3 subfamily,with two isoforms alpha and beta,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis
UniProtKB/Swiss-Prot CatalyticActivity:
Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Val-Glu-His-Asp- -.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activation is suppressed by phosphorylation at Ser-257.
UniProtKB/Swiss-Prot Function:
Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death.

Enzyme Numbers (IUBMB) for CASP6 Gene

Gene Ontology (GO) - Molecular Function for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 12888622
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA,TAS 7796396
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CASP6: view
genes like me logo Genes that share phenotypes with CASP6: view

Animal Models for CASP6 Gene

MGI Knock Outs for CASP6:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASP6

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CASP6 Gene

Localization for CASP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP6 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 CASP6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CASP6: view

Pathways & Interactions for CASP6 Gene

genes like me logo Genes that share pathways with CASP6: view

SIGNOR curated interactions for CASP6 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CASP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 12888622
GO:0006915 apoptotic process TAS 7796396
GO:0030855 epithelial cell differentiation IEP 21492153
GO:0042981 regulation of apoptotic process TAS --
GO:0072734 cellular response to staurosporine IMP 22253444
genes like me logo Genes that share ontologies with CASP6: view

Drugs & Compounds for CASP6 Gene

Products:

  1. Drug

(19) Drugs for CASP6 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Z-VEID-FMK Pharma Inhibition, Inhibitor Caspase-6 inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0
Z-DEVD-FMK Pharma Inhibition, Inhibitor Caspase-3 inhibitor, Cell-permeable, irreversible caspase-3 inhibitor 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0
PD 150606 Pharma Non-peptide calpain inhibitor, Cell permeable calpain inhibitor 0

(7) Additional Compounds for CASP6 Gene - From: Novoseek and Tocris

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

(3) Tocris Compounds for CASP6 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

(3) ApexBio Compounds for CASP6 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Z-DEVD-FMK Caspase-3 inhibitor 210344-95-9
Z-VEID-FMK Caspase-6 inhibitor
genes like me logo Genes that share compounds with CASP6: view

Drug Products

Transcripts for CASP6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CASP6 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(436) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASP6 Gene

Caspase 6, apoptosis-related cysteine peptidase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASP6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASP6 Gene

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

Relevant External Links for CASP6 Gene

GeneLoc Exon Structure for
CASP6
ECgene alternative splicing isoforms for
CASP6

Expression for CASP6 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP6 Gene

mRNA expression in normal human tissues for CASP6 Gene
mRNA expression by BioGPS for CASP6 GenemRNA expression by GTEx for CASP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP6 Gene

This gene is overexpressed in Colon - Transverse (x4.6).

Protein differential expression in normal tissues from HIPED for CASP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.7), Lymph node (9.4), and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CASP6 Gene



Protein tissue co-expression partners for CASP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASP6 Gene:

CASP6

SOURCE GeneReport for Unigene cluster for CASP6 Gene:

Hs.654616

Evidence on tissue expression from TISSUES for CASP6 Gene

  • Blood(4.4)
  • Lung(4.3)
  • Intestine(2.6)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CASP6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP6 Gene

Orthologs for CASP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CASP6 34
  • 96.79 (n)
dog
(Canis familiaris)
 Mammalia CASP6 34 35
  • 88.7 (n)
cow
(Bos Taurus)
 Mammalia CASP6 34 35
  • 86.3 (n)
rat
(Rattus norvegicus)
 Mammalia Casp6 34
  • 84.73 (n)
mouse
(Mus musculus)
 Mammalia Casp6 34 16 35
  • 84.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia CASP6 35
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CASP6 35
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CASP6 34 35
  • 72.88 (n)
lizard
(Anolis carolinensis)
 Reptilia CASP6 35
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia casp6 34
  • 67.16 (n)
Str.15354 34
African clawed frog
(Xenopus laevis)
 Amphibia xCaspase-6 34
zebrafish
(Danio rerio)
 Actinopterygii casp6 34 35
  • 67.04 (n)
casp6l2 35
  • 52 (a)
 OneToMany
casp6l1 35
  • 33 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.144 34
fruit fly
(Drosophila melanogaster)
 Insecta Dcp-1 36 35
  • 38 (a)
decay 36 35
  • 34 (a)
Ice 35 36
  • 31 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6562 35
  • 34 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.7590 34
Species where no ortholog for CASP6 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)
  • 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 CASP6 Gene

ENSEMBL:
Gene Tree for CASP6 (if available)
TreeFam:
Gene Tree for CASP6 (if available)

Paralogs for CASP6 Gene

Paralogs for CASP6 Gene

(4) SIMAP similar genes for CASP6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASP6: view

Variants for CASP6 Gene

Sequence variations from dbSNP and Humsavar for CASP6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000196462 -- 109,693,448(+) TCTGG(A/G)AGGCC intron-variant
rs1000311001 -- 109,693,825(+) CCTCT(C/G)CCTCC intron-variant
rs1000372708 -- 109,704,650(+) CTAAC(A/G)TAGAA upstream-variant-2KB
rs1000648424 -- 109,692,180(+) TTAAT(C/T)TTCGT intron-variant
rs1000747613 -- 109,700,657(+) CTGGA(C/T)ATCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP6 Gene

Variant ID Type Subtype PubMed ID
nsv1123829 CNV deletion 24896259
nsv595142 CNV loss 21841781

Variation tolerance for CASP6 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP6 Gene

Disorders for CASP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASP6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
dystrophinopathies
  • dystrophinopathy
- elite association - COSMIC cancer census association via MalaCards
Search CASP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CASP6

Genetic Association Database (GAD)
CASP6
Human Genome Epidemiology (HuGE) Navigator
CASP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP6
genes like me logo Genes that share disorders with CASP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP6 Gene

Publications for CASP6 Gene

  1. Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease gene family. (PMID: 7796396) Fernandes-Alnemri T. … Alnemri E.S. (Cancer Res. 1995) 2 3 4 22 64
  2. Regulation of caspase-6 and FLIP by the AMPK family member ARK5. (PMID: 15273717) Suzuki A. … Esumi H. (Oncogene 2004) 3 4 22 64
  3. Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and Ich-1, involved in cellular apoptosis. (PMID: 8780721) Tiso N. … Danieli G.A. (Biochem. Biophys. Res. Commun. 1996) 2 3 22 64
  4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  5. Mutational analysis of caspase genes in prostate carcinomas. (PMID: 20402676) Kim M.S. … Lee S.H. (APMIS 2010) 3 46 64

Products for CASP6 Gene

  • Cloud-Clone Corp. Antibodies for CASP6
  • Cloud-Clone Corp. Proteins for CASP6
  • Cloud-Clone Corp Assay Kits for CASP6
  • Addgene plasmids for CASP6

Sources for CASP6 Gene

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