ENSG00000224389


Homo sapiens

Features
Gene ID: ENSG00000224389
  
Biological name :C4B
  
Synonyms : C4B / complement C4B (Chido blood group) / P0C0L5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.33
Gene start: 32014762
Gene end: 32035418
  
Corresponding Affymetrix probe sets: 1559036_at (Human Genome U133 Plus 2.0 Array)   208451_s_at (Human Genome U133 Plus 2.0 Array)   214428_x_at (Human Genome U133 Plus 2.0 Array)   235856_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391933
Ensembl peptide - ENSP00000415941
NCBI entrez gene - 721     See in Manteia.
OMIM - 120820
RefSeq - NM_001002029
RefSeq Peptide - NP_001002029
swissprot - P0C0L5
swissprot - F5GXS0
Ensembl - ENSG00000224389
  
Related genetic diseases (OMIM): 614379 - C4B deficiency, 614379
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
 c4ENSDARG00000015065Danio rerio
 C4ENSGALG00000032231Gallus gallus
 C4bENSMUSG00000073418Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C4A / P0C0L4 / complement C4A (Rodgers blood group)ENSG0000024473199
C3 / P01024 / complement C3ENSG0000012573028
C5 / P01031 / complement C5ENSG0000010680425
CPAMD8 / Q8IZJ3 / C3 and PZP like, alpha-2-macroglobulin domain containing 8ENSG0000016011120
PZP / P20742 / PZP, alpha-2-macroglobulin likeENSG0000012683819
CD109 / Q6YHK3 / CD109 moleculeENSG0000015653519
A2M / P01023 / alpha-2-macroglobulinENSG0000017589919
A2ML1 / A8K2U0 / alpha-2-macroglobulin like 1ENSG0000016653518


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
 IPR019565  Alpha-2-macroglobulin, thiol-ester bond-forming
 IPR019742  Alpha-2-macroglobulin, conserved site
 IPR036595  Alpha-macroglobulin, receptor-binding domain superfamily
 IPR037569  Complement component C4-A


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0006956 complement activation IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0008228 opsonization TAS
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0032490 detection of molecule of bacterial origin IDA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:2000427 positive regulation of apoptotic cell clearance IGI
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0044216 other organism cell IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0001848 complement binding IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0004866 endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030246 carbohydrate binding IDA


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:0001287 Meningitis 
Show

 HP:0045044 Decreased serum complement C4b 
Show

 HP:0200120 Chronic active hepatitis 
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  / complex / reaction
 ENSG00000123843 C4BPB / P20851 / complement component 4 binding protein beta  / complex / reaction
 ENSG00000182326 C1S / P09871 / complement C1s  / reaction
 ENSG00000196352 CD55 / P08174 / CD55 molecule (Cromer blood group)  / complex / 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 / reaction
 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
 ENSG00000205403 CFI / P05156 / complement factor I  / complex / reaction
 ENSG00000009724 MASP2 / O00187 / mannan binding lectin serine peptidase 2  / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000166278 C2 / P06681 / complement C2  / complex / reaction
 ENSG00000117335 CD46 / P15529 / CD46 molecule  / complex / reaction
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / complex / 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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