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Cfh Gene Detail
Summary
  • Symbol
    Cfh
  • Name
    complement component factor h
  • Synonyms
    Mud-1, Sas-1, Sas1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88385
    NCBI Gene: 12628
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:140013593-140111149 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 61.62 cM, cytoband F
  • Mapping Data
    46 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1677 from dbSNP Build 142
  • Strain Annotations
    15
  • PCR
    2
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88385
 protein coding gene Chr1:140012446-140111502 (-)
129S1/SvImJ no annotation
A/J MGP_AJ_G0016541
 protein coding gene Chr1:138586265-138706052 (-)
AKR/J MGP_AKRJ_G0016506
 protein coding gene Chr1:142743926-142927243 (-)
BALB/cJ no annotation
C3H/HeJ MGP_C3HHeJ_G0016325
 protein coding gene Chr1:142939742-143051042 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016962
 protein coding gene Chr1:149273989-149372259 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014671
 protein coding gene Chr1:131750627-131790818 (-)
CAST/EiJ MGP_CASTEiJ_G0015905
 protein coding gene Chr1:142377710-142410369 (-)
CBA/J MGP_CBAJ_G0016300
 protein coding gene Chr1:154112211-154459728 (-)
DBA/2J MGP_DBA2J_G0016406
 protein coding gene Chr1:137611741-137724440 (-)
FVB/NJ MGP_FVBNJ_G0016404
 protein coding gene Chr1:136228070-136344101 (-)
LP/J MGP_LPJ_G0016477
 protein coding gene Chr1:145366387-145474896 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016430
 protein coding gene Chr1:160265592-160266222 (-)
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0015691
 protein coding gene Chr1:136636235-136686929 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015478
 protein coding gene Chr1:141335902-141449700 (-)
WSB/EiJ MGP_WSBEiJ_G0015968
 protein coding gene Chr1:142545803-142660023 (-)



Homology
more
  • Human Ortholog
    CFH, complement factor H
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFH, complement factor H
  • Synonyms
    AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
  • Links
    NCBI Gene ID: 3075
    neXtProt AC: NX_P08603
    UniProt: P08603

  • Chr Location
    1q31.3; chr1:196651754-196752476 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with Cfh mouse models; 17 with human CFH associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
IDs
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
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    66 phenotypes from 4 alleles in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    78 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 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
less
  • All GO Annotations
    72
  • GO References
    31
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
    1191
  • Tissues
    115
  • cDNA Data
    85
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12628 NCBI Gene Model | MGI Sequence Detail 97557 C57BL/6J ±  kb
    transcript NM_009888 RefSeq | MGI Sequence Detail 4365 ZRU/MplStud  
    polypeptide P06909 UniProt | EBI | MGI Sequence Detail 1234 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      cDNA 88
      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 173
      Developmental Gene Expression 12
      Diseases 4
      Gene Ontology 31
      Phenotypes 78
    • 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:345835 Qiu C, et al., A single-cell time-lapse of mouse prenatal development from gastrula to birth. Nature. 2024 Feb;626(8001):1084-1093
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory