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Cfh Gene Detail
Summary
  • Symbol
    Cfh
  • Name
    complement component factor h
  • Synonyms
    Mud-1, Sas1, Sas-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88385
    NCBI Gene: 12628
Location & Maps
more
  • Sequence Map
    Chr1:140084708-140183764 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      99057 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CFH, complement factor H
  • Vertebrate Orthologs
    25
  • Human Ortholog
    CFH, complement factor H
    Orthology source: HomoloGene
  • Synonyms
    AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
  • Links
    NCBI Gene ID: 3075
    neXtProt AC: NX_P08603

  • Chr Location
    1q32; chr1:196651878-196747504 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 20086
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;10 western clawed frog;7 zebrafish
  • HCOP
    human homology predictions: CFH
  • Gene Tree
    Cfh
Human Diseases
more
  • Diseases
    2 with Cfh mouse models; 4 with human CFH associations

Human Disease Mouse Models
       Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1   OMIM: 235400 View 1 model
Macular Degeneration, Age-Related, 4; ARMD4   OMIM: 610698 View 1 model
       Basal Laminar Drusen   OMIM: 126700
Complement Factor H Deficiency; CFHD   OMIM: 609814
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Targeted
    2
  • Transgenic
    1
  • Genomic Mutations
    2 involving Cfh
  • Incidental Mutations
Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.
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 OTTMUSG00000024648 VEGA Gene Model | MGI Sequence Detail 99057 C57BL/6J ±  kb
transcript OTTMUST00000060596 VEGA | MGI Sequence Detail 4361 Not Applicable  
polypeptide OTTMUSP00000029568 VEGA | MGI Sequence Detail 1234 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    574 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 90
    cDNA 86
    Primer pair 3
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12706, MGD-MRK-14291, MGD-MRK-14293, MGD-MRK-1957
References
more
  • Summaries
    All 109
    Developmental Gene Expression 7
    Diseases 3
    Gene Ontology 5
    Phenotypes 38
  • Earliest
    J:312 Wortis HH, A gene locus concerned with an antigenic serum substance in Mus musculus. Genetics. 1965 Aug;52(2):267-73
  • Latest
    J:223294 Toomey CB, et al., Regulation of age-related macular degeneration-like pathology by complement factor H. Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):E3040-9

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
02/02/2016
MGI 6.02
The Jackson Laboratory