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C8b Gene Detail
Summary
  • Symbol
    C8b
  • Name
    complement component 8, beta polypeptide
  • Synonyms
    4930439B20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88236
    NCBI Gene: 110382
Location & Maps
more
  • Sequence Map
    Chr4:104766317-104804548 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38232 bp   ±  kb flank

  • Genome Browsers
Homology
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  • Human Ortholog
    C8B, complement component 8, beta polypeptide
  • Vertebrate Orthologs
    10
  • Human Ortholog
    C8B, complement component 8, beta polypeptide
    Orthology source: HomoloGene
  • Synonyms
    C82
  • Links
    NCBI Gene ID: 732
    neXtProt AC: NX_P07358

  • Chr Location
    1p32.2; chr1:56929210-56966140 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 48
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: C8B
  • Gene Tree
    C8b
Human Diseases
more
  • Diseases
    1 with human C8B associations

Human Disease Mouse Models
       Complement Component 8 Deficiency, Type II; C8D2   OMIM: 613789
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    11 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
    8
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving C8b
  • Incidental Mutations
In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype.
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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  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008115 VEGA Gene Model | MGI Sequence Detail 38232 C57BL/6J ±  kb
transcript OTTMUST00000018444 VEGA | MGI Sequence Detail 2239 Not Applicable  
polypeptide OTTMUSP00000008473 VEGA | MGI Sequence Detail 589 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    273 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004909 complement component C8 beta chain
  • InterPro Domains
    IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
    IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
    IPR001862 Membrane attack complex component/perforin/complement C9
    IPR020863 Membrane attack complex component/perforin domain, conserved site
    IPR020864 Membrane attack complex component/perforin (MACPF) domain
    IPR000884 Thrombospondin type-1 (TSP1) repeat
Molecular
Reagents
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  • All nucleic 21
    Genomic 1
    cDNA 20

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1714, MGI:1921221, MGI:2140338
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 11
  • Earliest
    J:3321 Bahary N, et al., Molecular genetic linkage maps of mouse chromosomes 4 and 6. Genomics. 1991 Sep;11(1):33-47
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

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