ENSG00000039537


Homo sapiens

Features
Gene ID: ENSG00000039537
  
Biological name :C6
  
Synonyms : C6 / complement C6 / P13671
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p13.1
Gene start: 41142234
Gene end: 41261438
  
Corresponding Affymetrix probe sets: 210168_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396565
Ensembl peptide - ENSP00000401578
Ensembl peptide - ENSP00000263413
Ensembl peptide - ENSP00000338861
NCBI entrez gene - 729     See in Manteia.
OMIM - 217050
RefSeq - XM_017009819
RefSeq - XM_011514117
RefSeq - XM_011514118
RefSeq - XM_011514119
RefSeq - XM_011514121
RefSeq - XM_017009818
RefSeq - NM_000065
RefSeq - NM_001115131
RefSeq - XM_005248357
RefSeq - XM_006714496
RefSeq - XM_011514114
RefSeq - XM_011514115
RefSeq - XM_011514116
RefSeq Peptide - NP_000056
RefSeq Peptide - NP_001108603
swissprot - C9JX36
swissprot - P13671
swissprot - C9JC72
Ensembl - ENSG00000039537
  
Related genetic diseases (OMIM): 217050 - Combined C6/C7 deficiency
  612446 - C6 deficiency, 612446
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
 c6ENSDARG00000057113Danio rerio
 c6ENSDARG00000093052Danio rerio
 C6ENSGALG00000014840Gallus gallus
 C6ENSMUSG00000022181Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C7 / P10643 / complement C7ENSG0000011293628
C8A / P07357 / complement C8 alpha chainENSG0000015713119
C8B / P07358 / complement C8 beta chainENSG0000002185218
C9 / P02748 / complement C9ENSG0000011360015


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR001862  Membrane attack complex component/perforin/complement C9
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR002350  Kazal domain
 IPR003884  Factor I / membrane attack complex
 IPR020863  Membrane attack complex component/perforin domain, conserved site
 IPR020864  Membrane attack complex component/perforin (MACPF) domain
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR035976  Sushi/SCR/CCP superfamily
 IPR036055  LDL receptor-like superfamily
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily
 IPR037563  Complement component C6


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001970 positive regulation of activation of membrane attack complex IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0006956 complement activation IEA
 biological_processGO:0006958 complement activation, classical pathway 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:0045917 positive regulation of complement activation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005579 membrane attack complex IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Terminal pathway of complement
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:0004431 Complement deficiency 
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 HP:0005381 Recurrent meningococcal disease "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176919 C8G / P07360 / complement C8 gamma chain  / complex / reaction
 ENSG00000109072 VTN / P04004 / vitronectin  / reaction / complex
 ENSG00000106804 C5 / P01031 / complement C5  / reaction / complex
 ENSG00000112936 C7 / P10643 / complement C7  / reaction / complex
 ENSG00000021852 C8B / P07358 / complement C8 beta chain  / reaction / complex
 ENSG00000157131 C8A / P07357 / complement C8 alpha chain  / complex / reaction
 ENSG00000085063 CD59 / P13987 / CD59 molecule (CD59 blood group)  / complex / reaction
 ENSG00000113600 C9 / P02748 / complement C9  / reaction / complex
 ENSG00000120885 CLU / P10909 / clusterin  / reaction / complex






 

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