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C8a Gene Detail
Summary
  • Symbol
    C8a
  • Name
    complement component 8, alpha polypeptide
  • Feature Type
    protein coding gene
  • IDs
    MGI:2668347
    NCBI Gene: 230558
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:104672876-104733595 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 48.69 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1568 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2668347
 protein coding gene Chr4:104672876-104733684 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028511
 protein coding gene Chr4:105337909-105392363 (-)
A/J MGP_AJ_G0028474
 protein coding gene Chr4:101622021-101678681 (-)
AKR/J MGP_AKRJ_G0028421
 protein coding gene Chr4:104088941-104143869 (-)
BALB/cJ MGP_BALBcJ_G0028493
 protein coding gene Chr4:101816283-101870644 (-)
C3H/HeJ MGP_C3HHeJ_G0028207
 protein coding gene Chr4:104855594-104912866 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028933
 protein coding gene Chr4:109226230-109289454 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026224
 protein coding gene Chr4:96929265-96989314 (-)
CAST/EiJ MGP_CASTEiJ_G0027643
 protein coding gene Chr4:102624442-102680234 (-)
CBA/J MGP_CBAJ_G0028176
 protein coding gene Chr4:112718600-112780593 (-)
DBA/2J MGP_DBA2J_G0028324
 protein coding gene Chr4:101269491-101326576 (-)
FVB/NJ MGP_FVBNJ_G0028292
 protein coding gene Chr4:100112159-100166891 (-)
LP/J MGP_LPJ_G0028425
 protein coding gene Chr4:105542473-105598593 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028318
 protein coding gene Chr4:118091548-118146558 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028968
 protein coding gene Chr4:104325796-104381993 (-)
PWK/PhJ MGP_PWKPhJ_G0027369
 protein coding gene Chr4:99479368-99534428 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027193
 protein coding gene Chr4:101706508-101763653 (-)
WSB/EiJ MGP_WSBEiJ_G0027723
 protein coding gene Chr4:104492430-104547645 (-)



Homology
more
  • Human Ortholog
    C8A, complement C8 alpha chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C8A, complement C8 alpha chain
  • Links
    NCBI Gene ID: 731
    neXtProt AC: NX_P07357
    UniProt: P07357

  • Chr Location
    1p32.2; chr1:56854768-56918223 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human C8A associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    15 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    8
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
    707
  • Tissues
    1
  • cDNA Data
    24
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035031 Ensembl Gene Model | MGI Sequence Detail 60720 C57BL/6J ±  kb
    transcript ENSMUST00000064873 Ensembl | MGI Sequence Detail 3617 Not Applicable  
    polypeptide ENSMUSP00000067541 Ensembl | MGI Sequence Detail 587 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004908 complement component C8 alpha chain
      (term hierarchy)
    • InterPro Domains
      IPR048831 Complement components C8A/B/C6, EGF-like domain
      IPR036055 LDL receptor-like superfamily
      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
      IPR036383 Thrombospondin type-1 (TSP1) repeat superfamily
    • GlyGen
      Q8K182 6 sites, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 24

      Microarray probesets 3
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:81997 Bar I, et al., The gene encoding disabled-1 (DAB1), the intracellular adaptor of the Reelin pathway, reveals unusual complexity in human and mouse. J Biol Chem. 2003 Feb 21;278(8):5802-12
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    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