ENSG00000166278


Homo sapiens

Features
Gene ID: ENSG00000166278
  
Biological name :C2
  
Synonyms : C2 / complement C2 / P06681
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.33
Gene start: 31897785
Gene end: 31945672
  
Corresponding Affymetrix probe sets: 1554533_at (Human Genome U133 Plus 2.0 Array)   203052_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417790
Ensembl peptide - ENSP00000417482
Ensembl peptide - ENSP00000418332
Ensembl peptide - ENSP00000420305
Ensembl peptide - ENSP00000419048
Ensembl peptide - ENSP00000418923
Ensembl peptide - ENSP00000299367
Ensembl peptide - ENSP00000372664
Ensembl peptide - ENSP00000388727
Ensembl peptide - ENSP00000391354
Ensembl peptide - ENSP00000392322
Ensembl peptide - ENSP00000395683
Ensembl peptide - ENSP00000403325
Ensembl peptide - ENSP00000406121
Ensembl peptide - ENSP00000406190
NCBI entrez gene - 717     See in Manteia.
OMIM - 613927
RefSeq - NM_000063
RefSeq - NM_001145903
RefSeq - NM_001178063
RefSeq - NM_001282457
RefSeq - NM_001282458
RefSeq - NM_001282459
RefSeq Peptide - NP_001269387
RefSeq Peptide - NP_001269388
RefSeq Peptide - NP_000054
RefSeq Peptide - NP_001139375
RefSeq Peptide - NP_001171534
RefSeq Peptide - NP_001269386
swissprot - Q5ST52
swissprot - Q8N6L6
swissprot - E9PDZ0
swissprot - C9JYQ5
swissprot - B4DQI1
swissprot - F2Z306
swissprot - F8WCJ9
swissprot - F2Z3N2
swissprot - H0Y3H6
swissprot - H0Y868
swissprot - A2ABG0
swissprot - P06681
swissprot - Q5JP69
Ensembl - ENSG00000166278
  
Related genetic diseases (OMIM): 217000 - C2 deficiency, 217000
  615489 - {Macular degeneration, age-related, 14, reduced risk of}, 615489
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
 si:ch1073-280e3.1ENSDARG00000019772Danio rerio
 C2ENSGALG00000035721Gallus gallus
 C2ENSMUSG00000024371Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AL645922.1ENSG0000024425539
CFB / P00751 / complement factor BENSG0000024364938
C4BPB / P20851 / complement component 4 binding protein betaENSG000001238438


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR002035  von Willebrand factor, type A
 IPR009003  Peptidase S1, PA clan
 IPR011360  Complement B/C2
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR035976  Sushi/SCR/CCP superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR037568  Complement C2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006956 complement activation IMP
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:2000427 positive regulation of apoptotic cell clearance IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Initial triggering of complement
Activation of C3 and C5
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:0000979 Purpura 
Show

 HP:0002725 Systemic lupus erythematosus 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127241 MASP1 / P48740 / mannan binding lectin serine peptidase 1  / reaction
 ENSG00000118004 Q9BWP8 / COLEC11 / collectin subfamily member 11  / reaction
 ENSG00000125730 C3 / P01024 / complement C3  / reaction / complex
 ENSG00000123843 C4BPB / P20851 / complement component 4 binding protein beta  / complex
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / complex / reaction
 ENSG00000196352 CD55 / P08174 / CD55 molecule (Cromer blood group)  / reaction / complex
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000166278 C2 / P06681 / complement C2  / complex
 ENSG00000182326 C1S / P09871 / complement C1s  / reaction
 ENSG00000184374 Q9Y6Z7 / COLEC10 / collectin subfamily member 10  / reaction
 ENSG00000173369 C1QB / P02746 / complement C1q B chain  / reaction
 ENSG00000159189 C1QC / P02747 / complement C1q C chain  / reaction
 ENSG00000165471 MBL2 / P11226 / mannose binding lectin 2  / reaction
 ENSG00000123838 C4BPA / P04003 / complement component 4 binding protein alpha  / complex
 ENSG00000173372 C1QA / P02745 / complement C1q A chain  / reaction
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / reaction
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / reaction
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / reaction
 ENSG00000009724 MASP2 / O00187 / mannan binding lectin serine peptidase 2  / reaction
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / complex / reaction
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / complex / reaction
 ENSG00000159403 C1R / P00736 / complement C1r  / reaction






 

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