ENSG00000111252


Homo sapiens

Features
Gene ID: ENSG00000111252
  
Biological name :SH2B3
  
Synonyms : Q9UQQ2 / SH2B3 / SH2B adaptor protein 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.12
Gene start: 111405948
Gene end: 111451623
  
Corresponding Affymetrix probe sets: 203320_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000345492
Ensembl peptide - ENSP00000440597
Ensembl peptide - ENSP00000473529
NCBI entrez gene - 10019     See in Manteia.
OMIM - 605093
RefSeq - XM_011537721
RefSeq - NM_001291424
RefSeq - NM_005475
RefSeq - XM_005253818
RefSeq - XM_005253819
RefSeq - XM_006719180
RefSeq - XM_011537719
RefSeq - XM_011537720
RefSeq Peptide - NP_001278353
RefSeq Peptide - NP_005466
swissprot - Q9UQQ2
swissprot - R4GN84
swissprot - F5GYM4
Ensembl - ENSG00000111252
  
Related genetic diseases (OMIM): 133100 - Erythrocytosis, somatic, 133100
  187950 - Thrombocythemia, somatic, 187950
  254450 - Myelofibrosis, somatic, 254450
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
 sh2b3ENSDARG00000069958Danio rerio
 SH2B3ENSGALG00000004610Gallus gallus
 Sh2b3ENSMUSG00000042594Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SH2B2 / SH2B adaptor protein 2ENSG0000016099934
SH2B1 / Q9NRF2 / SH2B adaptor protein 1ENSG0000017818834


Protein motifs (from Interpro)
Interpro ID Name
 IPR000980  SH2 domain
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily
 IPR015012  Phenylalanine zipper
 IPR030522  SH2B adapter protein 3
 IPR030523  SH2B adapter protein
 IPR035059  SH2B3, SH2 domain
 IPR036290  Phenylalanine zipper superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0030097 hemopoiesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035162 embryonic hemopoiesis IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035591 signaling adaptor activity IEA


Pathways (from Reactome)
Pathway description
Regulation of KIT signaling
Factors involved in megakaryocyte development and platelet production


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:0000822 Hypertension "High blood pressure." [HPO:curators]
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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:0001050 Plethora 
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 HP:0001063 Acrocyanosis 
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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:0001428 Somatic mutation 
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 HP:0001658 Myocardial infarction 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001894 Thrombocytosis 
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 HP:0001898 Increased red blood cell mass 
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 HP:0001899 Increased hematocrit 
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 HP:0001900 Increased hemoglobin 
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0002326 Transient ischemic attack 
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 HP:0002488 Acute leukemia 
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 HP:0002641 Peripheral thrombosis 
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 HP:0002863 Myelodysplasia 
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 HP:0002875 Exertional dyspnea 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003540 Abnormal platelet aggregation 
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 HP:0004420 Arterial thrombosis 
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 HP:0004936 Venous thrombosis 
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 HP:0005513 Increased megakaryocyte precursor cells 
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 HP:0005547 Myeloproliferative disorder 
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 HP:0011875 Abnormal platelet morphology "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson]
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 HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
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 HP:0100749 Chest pain 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000049130 KITLG / P21583 / KIT ligand  / complex / reaction
 ENSG00000157404 KIT / P10721 / KIT proto-oncogene receptor tyrosine kinase  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction






 

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