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C4b Gene Detail
Summary
  • Symbol
    C4b
  • Name
    complement C4B (Chido blood group)
  • Synonyms
    C4, Ss
  • Feature Type
    protein coding gene
  • IDs
    MGI:88228
    NCBI Gene: 12268
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:34947354-34962856 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 18.29 cM
  • Mapping Data
    35 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2 from dbSNP Build 142
  • Strain Annotations
    13
  • RFLP
    15
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88228
 protein coding gene Chr17:34947249-34962876 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023587
 protein coding gene Chr17:34826534-34844050 (-)
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ MGP_C3HHeJ_G0023316
 protein coding gene Chr17:34604400-34615590 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023994
 protein coding gene Chr17:36172208-36249539 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021474
 protein coding gene Chr17:31527031-31542705 (-)
CAST/EiJ MGP_CASTEiJ_G0022813
 protein coding gene Chr17:34533813-34534805 (-)
CBA/J MGP_CBAJ_G0023293
 protein coding gene Chr17:37767372-37768138 (-)
DBA/2J MGP_DBA2J_G0023420
 protein coding gene Chr17:32926654-32939421 (-)
FVB/NJ MGP_FVBNJ_G0023389
 protein coding gene Chr17:32920489-32921484 (-)
LP/J MGP_LPJ_G0023498
 protein coding gene Chr17:35115628-35227804 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023410
 protein coding gene Chr17:36520116-36521787 (-)
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0022562
 protein coding gene Chr17:31910085-31911167 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022378
 protein coding gene Chr17:32369097-32383192 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    C4A, complement C4A (Chido/Rodgers blood group)
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C4A, complement C4A (Chido/Rodgers blood group)
  • Synonyms
    C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG
  • Links
    NCBI Gene ID: 720
    neXtProt AC: NX_P0C0L4
    UniProt: P0C0L4

  • Chr Location
    6p21.33; chr6:31982057-32002681 (+)  GRCh38
  • Human Ortholog
    C4B, complement C4B (Chido/Rodgers blood group)
  • Synonyms
    C4B1, C4B12, C4B_2, C4B2, C4B3, C4B5, C4BD, C4F, CH, CO4, CPAMD3
  • Links
    NCBI Gene ID: 721
    neXtProt AC: NX_P0C0L4, NX_P0C0L5
    UniProt: P0C0L5

  • Chr Location
    6p21.33; chr6:32014795-32035418 (+)  GRCh38
  • Human Ortholog
    C4B_2, complement component 4B (Chido/Rodgers blood group), copy 2
  • Links
    NCBI Gene ID: 100293534
    neXtProt AC: NX_P0C0L5

  • Chr Location
    6
Human Diseases
more
  • Diseases
    1 with C4b mouse models; 8 with human C4A,C4B associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 2 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    97 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 C4 deficient mice have compromised immune responses.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    9
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
    782
  • Tissues
    59
  • cDNA Data
    22
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000073418 Ensembl Gene Model | MGI Sequence Detail 15503 C57BL/6J ±  kb
    transcript ENSMUST00000069507 Ensembl | MGI Sequence Detail 5379 Not Applicable  
    polypeptide ENSMUSP00000069418 Ensembl | MGI Sequence Detail 1738 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • GlyGen
      P01029 5 sites, 6 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 106
      Genomic 71
      cDNA 29
      Primer pair 2
      Other 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14605, MGD-MRK-1701
    References
    more
    • Summaries
      All 196
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 9
      Phenotypes 97
    • Earliest
      J:5011 Lilly F, The inheritance of susceptibility to the Gross leukemia virus in mice. Genetics. 1966 Mar;53(3):529-39
    • 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)
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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