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Cfh
Gene Detail
 Symbol
Name
ID
Cfh
complement component factor h
MGI:88385
Synonyms Mud-1, Sas1, Sas-1
Feature Type protein coding gene
Genetic Map
Chromosome 1
61.62 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(46)
Sequence Map
Chr1:140085855-140183411 bp, - strand
From VEGA annotation of GRCm38

  97557 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20086  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 3 cattle; 1 dog; 1 chicken; 9 zebrafish

Gene Tree: Cfh

Human
homologs
Human Homolog CFH, complement factor H
NCBI Gene ID 3075
neXtProt AC  NX_P08603
Human Synonyms  AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
Human Chr (Location)  1q32; chr1:196651878-196747504 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human CFH
Alleles
and
phenotypes
All alleles(2) : Targeted(2)
 
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.
 
Human Diseases Modeled Using Mouse Cfh (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process complement activation, alternative pathway, immune system process, ...
Component blood microparticle, cytoplasm, ...
Function complement component C3b binding, heparan sulfate proteoglycan binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (481)    Tissues (112)    Images (37)
Theiler Stages: 19, 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 479
RT-PCR 2
cDNA source data(83)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(90) cDNA(86) Primer pair(3) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000024648 (Evidence)
Ensembl Gene ModelENSMUSG00000026365 (Evidence)
Entrez Gene12628 (Evidence)
UniGene8655
DFCITC1577292, TC1605768, TC1621220
PDB2YBY
Consensus CDS ProjectCCDS48388.1
International Mouse Knockout Project StatusCfh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024648 VEGA Gene Model | MGI Sequence Detail 97557 C57BL/6J ±  kb
transcript OTTMUST00000060596 VEGA | MGI Sequence Detail 4365 Not Applicable 
polypeptide OTTMUSP00000029568 VEGA | MGI Sequence Detail 1234 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(2) UniProt(5)
Polymorphisms All PCR and RFLP(8) : PCR(2) RFLP(6) SNPs within 2kb(573 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1067)
Protein-related
information
ResourceIDDescription
InterPro IPR000436 Sushi/SCR/CCP
Protein Ontology PR:000005378 complement factor H
References (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:204297 Williams JA, et al., Retinal changes precede visual dysfunction in the complement factor H knockout mouse. PLoS One. 2013;8(7):e68616
All references(106)
Other
accession IDs
MGD-MRK-12706, MGD-MRK-14291, MGD-MRK-14293, MGD-MRK-1957

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory