ENSG00000082074


Homo sapiens

Features
Gene ID: ENSG00000082074
  
Biological name :FYB1
  
Synonyms : FYB1 / FYN binding protein 1 / O15117
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p13.1
Gene start: 39105255
Gene end: 39274528
  
Corresponding Affymetrix probe sets: 205285_s_at (Human Genome U133 Plus 2.0 Array)   211794_at (Human Genome U133 Plus 2.0 Array)   211795_s_at (Human Genome U133 Plus 2.0 Array)   224148_at (Human Genome U133 Plus 2.0 Array)   227266_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426346
Ensembl peptide - ENSP00000425845
Ensembl peptide - ENSP00000426597
Ensembl peptide - ENSP00000495508
Ensembl peptide - ENSP00000493623
Ensembl peptide - ENSP00000427114
Ensembl peptide - ENSP00000316460
Ensembl peptide - ENSP00000420989
Ensembl peptide - ENSP00000421988
Ensembl peptide - ENSP00000423888
Ensembl peptide - ENSP00000424919
NCBI entrez gene - 2533     See in Manteia.
OMIM - 602731
RefSeq - XM_017009316
RefSeq - NM_199335
RefSeq - XM_006714464
RefSeq - XM_006714465
RefSeq - XM_006714466
RefSeq - XM_011514008
RefSeq - XM_011514009
RefSeq - XM_011514010
RefSeq - XM_011514011
RefSeq - XM_011514012
RefSeq - NM_001243093
RefSeq - NM_001349333
RefSeq - NM_001465
RefSeq Peptide - NP_001336262
RefSeq Peptide - NP_001456
RefSeq Peptide - NP_955367
RefSeq Peptide - NP_001230022
swissprot - D6RFJ5
swissprot - O15117
swissprot - D6RER7
swissprot - D6RC38
swissprot - D6RAE8
Ensembl - ENSG00000082074
  
Related genetic diseases (OMIM): 273900 - Thrombocytopenia 3, 273900
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
 fybaENSDARG00000094764Danio rerio
 fybbENSDARG00000044694Danio rerio
 FYBENSGALG00000003792Gallus gallus
 FybENSMUSG00000022148Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PRAM1 / Q96QH2 / PML-RARA regulated adaptor molecule 1ENSG0000013324615


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR029294  Helically-extended SH3 domain
 IPR030635  FYN-binding protein
 IPR035540  FYB, helically extended SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0006607 NLS-bearing protein import into nucleus TAS
 biological_processGO:0006955 immune response IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0008150 biological_process ND
 biological_processGO:0035556 intracellular signal transduction TAS
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0072659 protein localization to plasma membrane IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IEA


Pathways (from Reactome)
Pathway description
Generation of second messenger molecules
Signal regulatory protein family interactions


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:0000421 Epistaxis 
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 HP:0000924 Abnormality of the musculoskeletal system "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [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:0005537 Decreased mean platelet volume 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2  / reaction / complex
 ENSG00000125753 VASP / P50552 / vasodilator stimulated phosphoprotein  / reaction / complex
 ENSG00000154380 ENAH / Q8N8S7 / ENAH, actin regulator  / reaction / complex
 ENSG00000196776 CD47 / Q08722 / CD47 molecule  / reaction / complex
 ENSG00000005020 SKAP2 / O75563 / src kinase associated phosphoprotein 2  / complex / reaction
 ENSG00000198053 SIRPA / P78324 / signal regulatory protein alpha  / complex / reaction






 

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