Manteia - Molecule gene

ENSMUSG00000026365

Mus musculus

Features

Gene ID:	ENSMUSG00000026365

Biological name :	Cfh

Synonyms :	Cfh / Complement factor H / P06909

Possible biological names infered from orthology :	CFHR3 / CFHR4 / complement factor H related 3 / complement factor H related 4 / P08603 / Q02985 / Q92496

Species:	Mus musculus

Chr. number:	1
Strand:	-1
Band:	F
Gene start:	140084708
Gene end:	140183764

Corresponding Affymetrix probe sets:	10358339 (MoGene1.0st) 10608654 (MoGene1.0st) 1423153_x_at (Mouse Genome 430 2.0 Array) 1450876_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000066677 Ensembl peptide - ENSMUSP00000141634 Ensembl peptide - ENSMUSP00000141209 Ensembl peptide - ENSMUSP00000115166 Ensembl peptide - ENSMUSP00000107608 Ensembl peptide - ENSMUSP00000107607 NCBI entrez gene - 12628 See in Manteia. MGI - MGI:88385 RefSeq - NM_009888 RefSeq Peptide - NP_034018 swissprot - A0A0A6YWP4 swissprot - A0A0A6YVP8 swissprot - E9Q8I0 swissprot - P06909 swissprot - E9Q8H9 swissprot - D6RGQ0 Ensembl - ENSMUSG00000026365

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
	ENSGALG00000002431	Gallus gallus
CFH	ENSG00000000971	Homo sapiens
CFHR3	ENSG00000116785	Homo sapiens
CFHR4	ENSG00000134365	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Gm4788 / complement factor H-related protein C isoform 2 / CFH* / CFHR4* / CFHR3* / Q92496* / P08603* / Q02985* / complement factor H* / complement factor H related 3* / complement factor ...	ENSMUSG00000070594	62
Cfhr2 / complement factor H-related 2 / CFH* / CFHR3* / CFHR4* / Q92496* / P08603* / Q02985* / complement factor H* / complement factor H related 4* / complement factor H related 3*	ENSMUSG00000033898	24
F13b / Q07968 / Coagulation factor XIII B chain / P05160*	ENSMUSG00000026368	17
Cfhr1 / complement factor H-related 1 / CFHR5* / CFHR2* / P36980* / Q9BXR6* / Q03591* / BX248415.1* / complement factor H related 5* / complement factor H related 2*	ENSMUSG00000057037	12
Selp / Q01102 / selectin, platelet / P16109* / selectin P*	ENSMUSG00000026580	11
Zp3r / zona pellucida 3 receptor	ENSMUSG00000042554	10
Sele / selectin, endothelial cell / P16581* / selectin E*	ENSMUSG00000026582	9
C4bp / P08607 / C4b-binding protein	ENSMUSG00000026405	8
Cd46 / O88174 / Membrane cofactor protein / P15529* / CD46 molecule*	ENSMUSG00000016493	6
Apoh / Q01339 / Beta-2-glycoprotein 1 / P02749* / apolipoprotein H*	ENSMUSG00000000049	6
Cd55 / Q61475 / Complement decay-accelerating factor, GPI-anchored / P08174* / CD55 molecule (Cromer blood group)*	ENSMUSG00000026399	6
Cd55b / CD55* / P08174* / CD55 molecule (Cromer blood group)*	ENSMUSG00000026401	6
Sell / P18337 / selectin, lymphocyte / P14151* / selectin L*	ENSMUSG00000026581	4

Protein motifs (from Interpro)

Interpro ID	Name
IPR000436	Sushi/SCR/CCP domain
IPR035976	Sushi/SCR/CCP superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0002376	immune system process	IEA
biological_process	GO:0006956	complement activation	ISO
biological_process	GO:0006957	complement activation, alternative pathway	IEA
biological_process	GO:0030449	regulation of complement activation	IMP
biological_process	GO:0045087	innate immune response	IEA
biological_process	GO:0045919	positive regulation of cytolysis	IDA
cellular_component	GO:0005576	extracellular region	IEA
cellular_component	GO:0005615	extracellular space	IDA
molecular_function	GO:0001851	complement component C3b binding	IPI
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008201	heparin binding	ISO
molecular_function	GO:0043395	heparan sulfate proteoglycan binding	ISO

Pathways (from Reactome)

Pathway description

Regulation of Complement cascade

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000314	schistocytosis	"the appearance of poikilocytes in the blood that owe their abnormal shape to fragmentation occurring as the cells flow through damaged small vessels" [J:82330, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0001004	abnormal photoreceptor morphology	"structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0001325	abnormal retina morphology	"structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002743	glomerulonephritis	"glomerular disease characterized by diffuse inflammatory reaction that is not the acute response to infection of the kidneys" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129/Sv
MP:0002871	albuminuria	"presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002962	increased protein excretion	"greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0003179	decreased platelet count	"fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0003329	amyloid beta deposits		Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0003606	kidney failure	"cessation of renal function" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0003727	abnormal retinal layer morphology	"malformation in any of the layers that make up the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0005161	hematuria	"presence of blood in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78193]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0005201	abnormal retinal pigment epithelium morphology	"anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0005239	abnormal Bruch membrane morphology	"anomalous structure of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0005325	abnormal glomerulus	"anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0005416	abnormal circulating protein level	"anomalous blood concentration of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Cfi^tm1Mcp/Cfi^tm1Mcp Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh⁺ Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Cfb^tm1Hrc/Cfb⁺,Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129S/Sv * C57BL/6
MP:0005561	increased mean corpuscular hemoglobin	"greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cenpj^{tm1a(EUCOMM)Wtsi}/Cenpj^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Cenpj^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005565	increased blood urea nitrogen level	"high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0005615	increased susceptibility to type III hypersensitivity reaction	"greater likelihood of developing tissue injury mediated by immune complexes; generally involves immune complexes formed in the blood via Abs encountering circulating Ag; Ag-Ab complexes then deposit in tissues (especially blood vessels and glomeruli), induce complement activation, and result in tissue injury " [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0006074	abnormal retinal rod bipolar cell morphology	"anomalous structure of the bipolar cells that function in low light and transmit signals only through amacrine cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0006149	blurred vision	"loss of visiual acuity or ability to distinguish small details" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0008586	disorganized photoreceptor outer segment	"derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0010215	abnormal circulating complement protein level	"deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0011310	abnormal kidney capillary morphology	"any structural anomaly of the small branching blood vessels in the kidney that form a network between the arterioles and venules, where the exchange of water, oxygen, carbon dioxide, and other nutrient and waste chemical substances occurs between the blood and the surrounding tissues" [http://en.wikipedia.org/wiki/Capillary, MGI:csmith]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011348	abnormal renal glomerulus basement membrane morphology	"any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011353	expanded mesangial matrix	"increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011427	mesangial cell hyperplasia	"increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011507	kidney thrombosis	"formation or presence of a thrombus within the blood vessel network of the organ of secretion" [MGI:anna]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0011512	mesangial cell interposition	"spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM)" [MGI:anna]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0011566	abnormal complement protein level	"deviation from the normal levels, or accumulation of the proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes" [MGI:csmith]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129/Sv Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0011738	anasarca	"widespread swelling due to effusion of serous fluid into the extracellular space, especially into the connective tissue" [MGI:smb]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Tg(CAG-Cfh)#Mcp/0 Genetic Background:* involves: 129/Sv * C57BL/6 * CBA
MP:0012143	decreased a wave amplitude	"reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0012144	decreased b wave amplitude	"reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]	Show Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi},Gt(ROSA)26Sor^{tm2(cre/ERT2)Brn}/Gt(ROSA)26Sor⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/SvlmJ * C57BL/6Brd * C57BL/6N * SJL
MP:0020216	decreased circulating complement protein level	"less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes" [GOC:NV]	Show Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129/Sv
MP:0020518	renal glomerular protein deposits	"any anomalous accumulation of protein in the renal glomerulus" [HP:0030949]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh⁺,Cfi^tm1Mcp/Cfi^tm1Mcp Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo,Cfi^tm1Mcp/Cfi^tm1Mcp Genetic Background: involves: 129/Sv * C57BL/6 Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129/Sv Allelic Composition: Cfb^tm1Hrc/Cfb⁺,Cfh^tm1Mbo/Cfh^tm1Mbo Genetic Background: involves: 129S/Sv * C57BL/6
MP:0020519	renal glomerular immunoglobulin deposits	"any anomalous accumulation of immunoglobulins in the renal glomerulus" [PMID:12764198, PMID:17685926]	Show Allelic Composition: Cdkn2d^tm1Maro/Cdkn2d^tm1Maro Genetic Background: involves: 129X1/SvJ * C57BL/6

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr