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C3 Gene Detail
Summary
  • Symbol
    C3
  • Name
    complement component 3
  • Synonyms
    acylation stimulating protein, complement factor 3, Plp
  • Feature Type
    protein coding gene
  • IDs
    MGI:88227
    NCBI Gene: 12266
  • Gene Overview
    MyGene.info: C3
Location & Maps
more
  • Sequence Map
    Chr17:57203970-57228136 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24167 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 29.72 cM, cytoband E1-E3
  • Mapping Data
    41 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    C3, complement C3
  • Vertebrate Orthologs
    21
  • Human Ortholog
    C3, complement C3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
  • Links
    NCBI Gene ID: 718
    neXtProt AC: NX_P01024

  • Chr Location
    19p13.3-p13.2; chr19:6677835-6720682 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with C3 mouse models; 3 with human C3 associations

Human Disease Mouse Models
       Complement Component 3 Deficiency, Autosomal Recessive; C3D   OMIM: 613779 View 3 models
       Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5; AHUS5   OMIM: 612925
Macular Degeneration, Age-Related, 9; ARMD9   OMIM: 611378
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 4 alleles in 11 genetic backgrounds
    40 phenotypes from multigenic genotypes
    3 images
    285 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.
Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.
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 OTTMUSG00000042133 VEGA Gene Model | MGI Sequence Detail 24167 C57BL/6J ±  kb
transcript OTTMUST00000110561 VEGA | MGI Sequence Detail 5136 Not Applicable  
polypeptide OTTMUSP00000061702 VEGA | MGI Sequence Detail 1663 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    87 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000004900 complement C3
  • InterPro Domains
    IPR001599 Alpha-2-macroglobulin
    IPR019742 Alpha-2-macroglobulin, conserved site
    IPR002890 Alpha-2-macroglobulin, N-terminal
    IPR011625 Alpha-2-macroglobulin, N-terminal 2
    IPR019565 Alpha-2-macroglobulin, thiol-ester bond-forming
    IPR011626 Alpha-macroglobulin complement component
    IPR009048 Alpha-macroglobulin, receptor-binding
    IPR018081 Anaphylatoxin, complement system
    IPR001840 Anaphylatoxin, complement system domain
    IPR000020 Anaphylatoxin/fibulin
    IPR001134 Netrin domain
    IPR018933 Netrin module, non-TIMP type
    IPR008930 Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
    IPR008993 Tissue inhibitor of metalloproteinases-like, OB-fold
Molecular
Reagents
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  • All nucleic 428
    Genomic 1
    cDNA 423
    Primer pair 1
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1700, MGI:2146809
References
more
  • Summaries
    All 395
    Developmental Gene Expression 11
    Diseases 3
    Gene Ontology 10
    Phenotypes 285
  • Earliest
    J:5960 Da Silva FP, et al., Murine complement component 3: genetic variation and linkage to H-2. Proc Natl Acad Sci U S A. 1978 Feb;75(2):963-5
  • Latest
    J:233754 Broders-Bondon F, et al., Control of the collective migration of enteric neural crest cells by the Complement anaphylatoxin C3a and N-cadherin. Dev Biol. 2016 Jun 1;414(1):85-99

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory