ENSG00000106804


Homo sapiens

Features
Gene ID: ENSG00000106804
  
Biological name :C5
  
Synonyms : C5 / complement C5 / P01031
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q33.2
Gene start: 120952335
Gene end: 121050276
  
Corresponding Affymetrix probe sets: 205500_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000223642
NCBI entrez gene - 727     See in Manteia.
OMIM - 120900
RefSeq - XM_017015104
RefSeq - NM_001317163
RefSeq - NM_001735
RefSeq - XM_011518980
RefSeq - XM_017015102
RefSeq - XM_017015103
RefSeq Peptide - NP_001726
RefSeq Peptide - NP_001304092
swissprot - P01031
Ensembl - ENSG00000106804
  
Related genetic diseases (OMIM): 609536 - C5 deficiency, 609536
  615749 - [Eculizumab, poor response to], 615749
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
 c5ENSDARG00000021004Danio rerio
 C5ENSGALG00000001565Gallus gallus
 HcENSMUSG00000026874Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C3 / P01024 / complement C3ENSG0000012573028
C4A / P0C0L4 / complement C4A (Rodgers blood group)ENSG0000024473126
C4B / P0C0L5 / complement C4B (Chido blood group)ENSG0000022438926
CPAMD8 / Q8IZJ3 / C3 and PZP like, alpha-2-macroglobulin domain containing 8ENSG0000016011119
PZP / P20742 / PZP, alpha-2-macroglobulin likeENSG0000012683818
A2ML1 / A8K2U0 / alpha-2-macroglobulin like 1ENSG0000016653518
A2M / P01023 / alpha-2-macroglobulinENSG0000017589918
CD109 / Q6YHK3 / CD109 moleculeENSG0000015653517


Protein motifs (from Interpro)
Interpro ID Name
 IPR000020  Anaphylatoxin/fibulin
 IPR001134  Netrin domain
 IPR001599  Alpha-2-macroglobulin
 IPR001840  Anaphylatoxin, complement system domain
 IPR002890  Alpha-2-macroglobulin, N-terminal
 IPR008930  Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
 IPR008993  Tissue inhibitor of metalloproteinases-like, OB-fold
 IPR009048  Alpha-macroglobulin, receptor-binding
 IPR011625  Alpha-2-macroglobulin, N-terminal 2
 IPR011626  Alpha-macroglobulin complement component
 IPR013783  Immunoglobulin-like fold
 IPR018081  Anaphylatoxin, complement system
 IPR018933  Netrin module, non-TIMP type
 IPR036595  Alpha-macroglobulin, receptor-binding domain superfamily
 IPR037562  Complement C5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000187 activation of MAPK activity TAS
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006935 chemotaxis TAS
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0006956 complement activation TAS
 biological_processGO:0006957 complement activation, alternative pathway IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IDA
 biological_processGO:0010760 negative regulation of macrophage chemotaxis IDA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0019835 cytolysis IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0060326 cell chemotaxis IEA
 biological_processGO:0090197 positive regulation of chemokine secretion IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005579 membrane attack complex IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004866 endopeptidase inhibitor activity IEA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008009 chemokine activity TAS


Pathways (from Reactome)
Pathway description
Terminal pathway of complement
Activation of C3 and C5
Peptide ligand-binding receptors
G alpha (i) signalling events
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002041 Intractable diarrhea 
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 HP:0002719 Recurrent infections 
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 HP:0004431 Complement deficiency 
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 HP:0006946 Recurrent meningitis 
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 HP:0007569 Generalized seborrheic dermatitis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000080618 CPB2 / Q96IY4 / carboxypeptidase B2  / reaction
 ENSG00000176919 C8G / P07360 / complement C8 gamma chain  / complex / reaction
 ENSG00000109072 VTN / P04004 / vitronectin  / reaction / complex
 ENSG00000197405 C5AR1 / P21730 / complement C5a receptor 1  / reaction / complex
 ENSG00000085063 CD59 / P13987 / CD59 molecule (CD59 blood group)  / complex / reaction
 ENSG00000113600 C9 / P02748 / complement C9  / reaction / complex
 ENSG00000112936 C7 / P10643 / complement C7  / reaction / complex
 ENSG00000021852 C8B / P07358 / complement C8 beta chain  / reaction / complex
 ENSG00000106804 C5 / P01031 / complement C5  / complex
 ENSG00000134830 C5AR2 / Q9P296 / complement component 5a receptor 2  / reaction / complex
 ENSG00000039537 C6 / P13671 / complement C6  / reaction / complex
 ENSG00000157131 C8A / P07357 / complement C8 alpha chain  / reaction / complex
 ENSG00000126759 CFP / P27918 / complement factor properdin  / reaction
 ENSG00000125730 C3 / P01024 / complement C3  / reaction
 ENSG00000166278 C2 / P06681 / complement C2  / reaction
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / reaction
 ENSG00000120885 CLU / P10909 / clusterin  / complex / reaction
 ENSG00000178772 CPN2 / P22792 / carboxypeptidase N subunit 2  / reaction
 ENSG00000120054 CPN1 / P15169 / carboxypeptidase N subunit 1  / reaction
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction
 ENSG00000243649 CFB / P00751 / complement factor B  / reaction
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / reaction






 

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