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; chr1:196621008-196716634 (+)  GRCh37.p10
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.

 
Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	complement activation, alternative pathway, innate immune response, ...
Component	cytoplasm, extracellular region, ...
Function	complement component C3b binding, eukaryotic cell surface binding, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (431)    Tissues (62)    Images (35)
Theiler Stages: 19, 22, 23, 24, 28

Assay Type	Results
RNA in situ	429
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 Model	OTTMUSG00000024648 (Evidence)
Ensembl Gene Model	ENSMUSG00000026365 (Evidence)
Entrez Gene	12628 (Evidence)
UniGene	8655
DFCI	TC1577292, TC1605768, TC1621220
PDB	2YBY
Consensus CDS Project	CCDS48388.1
International Mouse Knockout Project Status	Cfh

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024648	VEGA Gene Model | MGI Sequence Detail	97557	C57BL/6J
transcript	OTTMUST00000060596	VEGA | MGI Sequence Detail	4365	Not Applicable
polypeptide	OTTMUSP00000029568	VEGA | MGI Sequence Detail	1234	Not Applicable

All sequences(37) RefSeq(2) UniProt(5)

Polymorphisms

All PCR and RFLP(8) : PCR(2) RFLP(6) SNPs(165 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016060	Complement control module
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:194744 Banda NK, et al., Essential role of surface-bound complement factor h in controlling immune complex-induced arthritis. J Immunol. 2013 Apr 1;190(7):3560-9
All references(99)

Other accession IDs

MGD-MRK-12706, MGD-MRK-14291, MGD-MRK-14293, MGD-MRK-1957