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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
  • Alliance
    gene page
  • Transcription Start Sites
    55 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:57510970-57535136 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 29.72 cM, cytoband E1-E3
  • Mapping Data
    41 experiments
Strain
Comparison
more
  • SNPs within 2kb
    687 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88227
 protein coding gene Chr17:57510967-57535136 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023959
 protein coding gene Chr17:58971369-59001221 (-)
A/J MGP_AJ_G0023917
 protein coding gene Chr17:57335091-57359217 (-)
AKR/J MGP_AKRJ_G0023886
 protein coding gene Chr17:58062465-58086584 (-)
BALB/cJ MGP_BALBcJ_G0023918
 protein coding gene Chr17:57172948-57197061 (-)
C3H/HeJ MGP_C3HHeJ_G0023682
 protein coding gene Chr17:58779408-58803383 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024364
 protein coding gene Chr17:61267678-61293597 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021810
 protein coding gene Chr17:53802779-53828080 (-)
CAST/EiJ MGP_CASTEiJ_G0023164
 protein coding gene Chr17:59088416-59114439 (-)
CBA/J MGP_CBAJ_G0023658
 protein coding gene Chr17:63662063-63689043 (-)
DBA/2J MGP_DBA2J_G0023786
 protein coding gene Chr17:56025716-56050095 (-)
FVB/NJ MGP_FVBNJ_G0023752
 protein coding gene Chr17:55604214-55628264 (-)
LP/J MGP_LPJ_G0023868
 protein coding gene Chr17:59655620-59680444 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023780
 protein coding gene Chr17:63092197-63116217 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024408
 protein coding gene Chr17:58423657-58448824 (-)
PWK/PhJ MGP_PWKPhJ_G0022910
 protein coding gene Chr17:55396411-55420853 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022721
 protein coding gene Chr17:55197617-55224500 (-)
WSB/EiJ MGP_WSBEiJ_G0023230
 protein coding gene Chr17:59059143-59083996 (-)



Homology
more
  • Human Ortholog
    C3, complement C3
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C3, complement C3
  • Synonyms
    AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
  • Links
    NCBI Gene ID: 718
    neXtProt AC: NX_P01024
    UniProt: P01024

  • Chr Location
    19p13.3; chr19:6677704-6730562 (-)  GRCh38
  • MGI Vertebrate Homology
    C3 stringent orthology
    1 human;1 mouse;1 rat;5 zebrafish
  • HCOP
    vertebrate homology predictions: C3
  • Gene Tree
    C3
Human Diseases
more
  • Diseases
    1 with C3 mouse models; 13 with human C3 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    89 phenotypes from 3 alleles in 10 genetic backgrounds
    41 phenotypes from multigenic genotypes
    3 images
    467 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
less
  • All GO Annotations
    61
  • GO References
    24
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
    855
  • Tissues
    72
  • cDNA Data
    423
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024164 Ensembl Gene Model | MGI Sequence Detail 24167 C57BL/6J ±  kb
    transcript ENSMUST00000024988 Ensembl | MGI Sequence Detail 5136 Not Applicable  
    polypeptide ENSMUSP00000024988 Ensembl | MGI Sequence Detail 1663 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000004900 complement C3
      (term hierarchy)
    • PDB
      6XZU
    • InterPro Domains
      IPR001599 Alpha-2-macroglobulin
      IPR011625 Alpha-2-macroglobulin, bait region domain
      IPR050473 Alpha-2-macroglobulin/Complement system
      IPR019742 Alpha-2-macroglobulin, conserved site
      IPR011626 Alpha-macroglobulin-like, TED domain
      IPR047565 Alpha-macroglobulin-like, thiol-ester bond-forming region
      IPR009048 Alpha-macroglobulin, receptor-binding
      IPR036595 Alpha-macroglobulin, receptor-binding domain superfamily
      IPR018081 Anaphylatoxin, complement system
      IPR001840 Anaphylatoxin, complement system domain
      IPR000020 Anaphylatoxin/fibulin
      IPR041425 Complement C3/4/5, macroglobulin domain MG1
      IPR035815 Complement C3-like, NTR domain
      IPR049466 Complement component 3, CUB domain, first segment
      IPR048848 Complement component 3, CUB domain, second segment
      IPR013783 Immunoglobulin-like fold
      IPR002890 Macroglobulin domain
      IPR041555 Macroglobulin domain MG3
      IPR040839 Macroglobulin domain MG4
      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
    • GlyGen
      P01027 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 434
      Genomic 1
      cDNA 424
      Primer pair 4
      Other 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1700, MGI:2146809
    References
    more
    • Summaries
      All 631
      Developmental Gene Expression 19
      Diseases 3
      Gene Ontology 24
      Phenotypes 467
    • 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:354496 Stark K, et al., Antibodies and complement are key drivers of thrombosis. Immunity. 2024 Sep 10;57(9):2140-2156.e10
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory