ENSG00000143226


Homo sapiens

Features
Gene ID: ENSG00000143226
  
Biological name :FCGR2A
  
Synonyms : Fc fragment of IgG receptor IIa / FCGR2A / P12318
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q23.3
Gene start: 161505430
Gene end: 161524013
  
Corresponding Affymetrix probe sets: 1565673_at (Human Genome U133 Plus 2.0 Array)   203561_at (Human Genome U133 Plus 2.0 Array)   210992_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000476495
Ensembl peptide - ENSP00000356949
Ensembl peptide - ENSP00000440148
Ensembl peptide - ENSP00000441156
Ensembl peptide - ENSP00000476411
Ensembl peptide - ENSP00000271450
NCBI entrez gene - 2212     See in Manteia.
NCBI entrez gene - 9103     See in Manteia.
OMIM - 612169
OMIM - 146790
RefSeq - XM_017000668
RefSeq - XM_011509287
RefSeq - XM_011509290
RefSeq - XM_011509291
RefSeq - XM_017000663
RefSeq - XM_017000664
RefSeq - XM_017000665
RefSeq - XM_017000666
RefSeq - XM_017000667
RefSeq - NM_001136219
RefSeq - NM_021642
RefSeq - NM_201563
RefSeq Peptide - NP_067674
RefSeq Peptide - NP_963857
RefSeq Peptide - NP_001129691
swissprot - F5GX41
swissprot - F5GXY9
swissprot - P12318
swissprot - V9GY55
swissprot - V9GY83
Ensembl - ENSG00000143226
  
Related genetic diseases (OMIM): 152700 - {Lupus nephritis, susceptibility to}, 152700
  188030 - Thrombocytopenic purpura, autoimmune, 188030
  219700 - {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700
  611162 - {Malaria, severe, susceptibility to}, 611162
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
 Fcgr2bENSMUSG00000026656Mus musculus
 Fcgr3ENSMUSG00000059498Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FCGR2C / Fc fragment of IgG receptor IIc (gene/pseudogene)ENSG0000024468285
FCGR2B / P31994 / Fc fragment of IgG receptor IIbENSG0000007269467
FCGR3B / O75015 / Fc fragment of IgG receptor IIIbENSG0000016274732
FCGR3A / P08637 / Fc fragment of IgG receptor IIIaENSG0000020374732
FCGR1A / P12314 / Fc fragment of IgG receptor IaENSG0000015033728
FCGR1B / Q92637 / Fc fragment of IgG receptor IbENSG0000019801927
FCRLB / Q6BAA4 / Fc receptor like BENSG0000016274626
FCRL5 / Q96RD9 / Fc receptor like 5ENSG0000014329723
FCER1A / P12319 / Fc fragment of IgE receptor IaENSG0000017963923
FCRL3 / Q96P31 / Fc receptor like 3ENSG0000016085621
FCRL4 / Q96PJ5 / Fc receptor like 4ENSG0000016351821
FCRLA / Q7L513 / Fc receptor like AENSG0000013218518
FCRL6 / Q6DN72 / Fc receptor like 6ENSG0000018103613
FCRL2 / Q96LA5 / Fc receptor like 2ENSG0000013270412
FCRL1 / Q96LA6 / Fc receptor like 1ENSG000001635345


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019864 IgG binding IEA


Pathways (from Reactome)
Pathway description
FCGR activation
Regulation of actin dynamics for phagocytic cup formation
Role of phospholipids in phagocytosis
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000225 Gingival bleeding 
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 HP:0000421 Epistaxis 
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 HP:0000967 Petechiae 
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 HP:0000978 Ecchymoses 
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 HP:0001342 Cerebral hemorrhage "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0001907 Thromboembolism 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0003454 Platelet antibody positive 
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 HP:0004420 Arterial thrombosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex / reaction
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000062598 ELMO2 / Q96JJ3 / engulfment and cell motility 2  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000150760 DOCK1 / Q14185 / dedicator of cytokinesis 1  / complex / reaction
 ENSG00000155849 ELMO1 / Q92556 / engulfment and cell motility 1  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3  / complex / reaction
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / complex / reaction
 ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2  / complex / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / complex / reaction
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / complex / reaction
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex / reaction






 

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