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Casp8 Gene Detail
Summary
  • Symbol
    Casp8
  • Name
    caspase 8
  • Synonyms
    Caspase-8, FLICE, MACH, Mch5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1261423
    NCBI Gene: 12370
Location & Maps
more
  • Sequence Map
    Chr1:58795374-58847503 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52130 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CASP8, caspase 8
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CASP8, caspase 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5
  • Links
    NCBI Gene ID: 841
    neXtProt AC: NX_Q14790

  • Chr Location
    2q33-q34; chr2:201233443-201287711 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Casp8 mouse models; 4 with human CASP8 associations

Human Disease Mouse Models
       CASPase 8 Deficiency   OMIM: 607271 View 1 model
       Dermatitis, Atopic   OMIM: 603165 View 1 model
       Breast Cancer   OMIM: 114480
Hepatocellular Carcinoma   OMIM: 114550
Lung Cancer   OMIM: 211980
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    90 phenotypes from 10 alleles in 10 genetic backgrounds
    47 phenotypes from multigenic genotypes
    67 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    11
  • Transgenic
    1
  • Genomic Mutations
    2 involving Casp8
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000047216 VEGA Gene Model | MGI Sequence Detail 52130 C57BL/6J ±  kb
transcript OTTMUST00000122094 VEGA | MGI Sequence Detail 1628 Not Applicable  
polypeptide OTTMUSP00000067072 VEGA | MGI Sequence Detail 500 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    245 from dbSNP Build 137
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 51
    Genomic 14
    cDNA 34
    Primer pair 2
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 174
    Developmental Gene Expression 27
    Diseases 2
    Gene Ontology 30
    Phenotypes 67
  • Earliest
    J:47358 Sakamaki K, et al., Molecular cloning and characterization of mouse caspase-8. Eur J Biochem. 1998 Apr 15;253(2):399-405
  • Latest
    J:226104 Wang F, et al., ASK1 mediates the teratogenicity of diabetes in the developing heart by inducing ER stress and inhibiting critical factors essential for cardiac development. Am J Physiol Endocrinol Metab. 2015 Sep 1;309(5):E487-99

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory