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C9 Gene Detail
Summary
  • Symbol
    C9
  • Name
    complement component 9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098282
    NCBI Gene: 12279
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:6474808-6528232 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 2.79 cM, cytoband A1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1308 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098282
 protein coding gene Chr15:6474808-6528306 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021696
 protein coding gene Chr15:3414586-3473123 (+)
A/J MGP_AJ_G0021657
 protein coding gene Chr15:3365677-3420358 (+)
AKR/J MGP_AKRJ_G0021635
 protein coding gene Chr15:3375900-3431218 (+)
BALB/cJ MGP_BALBcJ_G0021664
 protein coding gene Chr15:3284009-3337211 (+)
C3H/HeJ MGP_C3HHeJ_G0021440
 protein coding gene Chr15:3403406-3459958 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022103
 protein coding gene Chr15:3570404-3626978 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019640
 protein coding gene Chr15:3029881-3080992 (+)
CAST/EiJ MGP_CASTEiJ_G0020956
 protein coding gene Chr15:3383886-3441028 (+)
CBA/J MGP_CBAJ_G0021409
 protein coding gene Chr15:3625339-3688095 (+)
DBA/2J MGP_DBA2J_G0021533
 protein coding gene Chr15:3301499-3353858 (+)
FVB/NJ MGP_FVBNJ_G0021511
 protein coding gene Chr15:3221508-3273288 (+)
LP/J MGP_LPJ_G0021601
 protein coding gene Chr15:3346098-3401937 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021536
 protein coding gene Chr15:3835966-3895933 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022126
 protein coding gene Chr15:3397408-3452474 (+)
PWK/PhJ MGP_PWKPhJ_G0020699
 protein coding gene Chr15:3297730-3353654 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020537
 protein coding gene Chr15:3319624-3377624 (+)
WSB/EiJ MGP_WSBEiJ_G0021012
 protein coding gene Chr15:3314479-3369417 (+)



Homology
more
  • Human Ortholog
    C9, complement C9
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C9, complement C9
  • Synonyms
    ARMD15, C9D
  • Links
    NCBI Gene ID: 735
    neXtProt AC: NX_P02748
    UniProt: P02748

  • Chr Location
    5p13.1; chr5:39284140-39371324 (-)  GRCh38
  • MGI Vertebrate Homology
    C9 stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: C9
  • Gene Tree
    C9
Human Diseases
more
  • Diseases
    3 with human C9 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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.
Mice homozygous for a null allele exhibit impaired antibody-mediated hemolysis and lipopolysaccharide (LPS)-induced acute shock.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    6
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
    747
  • Tissues
    14
  • cDNA Data
    24
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022149 Ensembl Gene Model | MGI Sequence Detail 53425 C57BL/6J ±  kb
    transcript ENSMUST00000239466 Ensembl | MGI Sequence Detail 1757 Not Applicable  
    polypeptide ENSMUSP00000159308 Ensembl | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000004911 complement component C9
      (term hierarchy)
    • PDB
      6CXO
    • InterPro Domains
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      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
      P06683 3 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 24

      Microarray probesets 3
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 14
    • Earliest
      J:43388 Stanley KK, et al., Topological mapping of complement component C9 by recombinant DNA techniques suggests a novel mechanism for its insertion into target membranes. EMBO J. 1987 Jul;6(7):1951-7
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory