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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
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr1:58834553-58886663 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 29.19 cM, cytoband B
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1081 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1261423
 protein coding gene Chr1:58834533-58886663 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016058
 protein coding gene Chr1:58725129-58771896 (+)
A/J MGP_AJ_G0016041
 protein coding gene Chr1:56657243-56704074 (+)
AKR/J MGP_AKRJ_G0015997
 protein coding gene Chr1:58207303-58253636 (+)
BALB/cJ MGP_BALBcJ_G0015996
 protein coding gene Chr1:56690268-56738628 (+)
C3H/HeJ MGP_C3HHeJ_G0015828
 protein coding gene Chr1:58486316-58539975 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016449
 protein coding gene Chr1:61066741-61112266 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014170
 protein coding gene Chr1:52542943-52589507 (+)
CAST/EiJ MGP_CASTEiJ_G0015410
 protein coding gene Chr1:57663842-57720601 (+)
CBA/J MGP_CBAJ_G0015800
 protein coding gene Chr1:62912772-62973117 (+)
DBA/2J MGP_DBA2J_G0015901
 protein coding gene Chr1:56093093-56141632 (+)
FVB/NJ MGP_FVBNJ_G0015903
 protein coding gene Chr1:55409069-55468335 (+)
LP/J MGP_LPJ_G0015973
 protein coding gene Chr1:59611288-59668402 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015923
 protein coding gene Chr1:65893560-65941392 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016496
 protein coding gene Chr1:58165866-58209140 (+)
PWK/PhJ MGP_PWKPhJ_G0015197
 protein coding gene Chr1:55444811-55492517 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014976
 protein coding gene Chr1:57673878-57728353 (+)
WSB/EiJ MGP_WSBEiJ_G0015473
 protein coding gene Chr1:57859822-57918414 (+)



Homology
more
  • Human Ortholog
    CASP8, caspase 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASP8, caspase 8
  • Synonyms
    ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5
  • Links
    NCBI Gene ID: 841
    neXtProt AC: NX_Q14790
    UniProt: Q14790

  • Chr Location
    2q33.1; chr2:201233443-201361836 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Casp8 mouse models; 7 with human CASP8 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    105 phenotypes from 14 alleles in 14 genetic backgrounds
    62 phenotypes from multigenic genotypes
    199 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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. Homozygosity for an auto-cleavage deficient allele leads to splenomegaly and decreased apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    117
  • GO References
    47
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    844
  • Tissues
    76
  • cDNA Data
    35
  • Literature Summary
    60
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12370 NCBI Gene Model | MGI Sequence Detail 52111 C57BL/6J ±  kb
    transcript NM_001420041 RefSeq | MGI Sequence Detail 2682 ZRU/MplStud  
    polypeptide O89110 UniProt | EBI | MGI Sequence Detail 480 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 14
      cDNA 36
      Primer pair 7
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 383
      Developmental Gene Expression 60
      Diseases 2
      Gene Ontology 47
      Phenotypes 199
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:353050 Krishnacoumar B, et al., Caspase-8 promotes scramblase-mediated phosphatidylserine exposure and fusion of osteoclast precursors. Bone Res. 2024 Jul 11;12(1):40
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory