ENSG00000116785


Homo sapiens

Features
Gene ID: ENSG00000116785
  
Biological name :CFHR3
  
Synonyms : CFHR3 / complement factor H related 3 / Q02985
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q31.3
Gene start: 196774795
Gene end: 196795406
  
Corresponding Affymetrix probe sets: 1554459_s_at (Human Genome U133 Plus 2.0 Array)   1570228_at (Human Genome U133 Plus 2.0 Array)   207874_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000375845
Ensembl peptide - ENSP00000481905
Ensembl peptide - ENSP00000436258
Ensembl peptide - ENSP00000356395
Ensembl peptide - ENSP00000356397
NCBI entrez gene - 10878     See in Manteia.
OMIM - 605336
RefSeq - NM_001166624
RefSeq - NM_021023
RefSeq Peptide - NP_066303
RefSeq Peptide - NP_001160096
swissprot - Q6NSD3
swissprot - Q02985
swissprot - A0A087WYK9
Ensembl - ENSG00000116785
  
Related genetic diseases (OMIM): 235400 - {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400
  603075 - {Macular degeneration, age-related, reduced risk of}, 603075
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000002431Gallus gallus
 CfhENSMUSG00000026365Mus musculus
 Cfhr2ENSMUSG00000033898Mus musculus
 Gm4788ENSMUSG00000070594Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CFHR4 / Q92496 / complement factor H related 4ENSG0000013436550
CFH / P08603 / complement factor HENSG0000000097141
CFHR5 / Q9BXR6 / complement factor H related 5ENSG0000013438931
BX248415.1ENSG0000027691129
CFHR2 / P36980 / complement factor H related 2ENSG0000008091029
CFHR1 / Q03591 / complement factor H related 1ENSG0000024441427
F13B / P05160 / coagulation factor XIII B chainENSG0000014327821
SELP / P16109 / selectin PENSG0000017417513
C4BPA / P04003 / complement component 4 binding protein alphaENSG0000012383813
SELE / P16581 / selectin EENSG000000079089
CD46 / P15529 / CD46 moleculeENSG000001173355
CD55 / P08174 / CD55 molecule (Cromer blood group)ENSG000001963524
APOH / P02749 / apolipoprotein HENSG000000915834
SELL / P14151 / selectin LENSG000001884044


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA


Pathways (from Reactome)
Pathway description
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000116785 CFHR3 / Q02985 / complement factor H related 3  / complex






 

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