ENSG00000183918


Homo sapiens

Features
Gene ID: ENSG00000183918
  
Biological name :SH2D1A
  
Synonyms : O60880 / SH2D1A / SH2 domain containing 1A
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q25
Gene start: 124227868
Gene end: 124373197
  
Corresponding Affymetrix probe sets: 210116_at (Human Genome U133 Plus 2.0 Array)   211209_x_at (Human Genome U133 Plus 2.0 Array)   211210_x_at (Human Genome U133 Plus 2.0 Array)   211211_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494582
Ensembl peptide - ENSP00000353126
Ensembl peptide - ENSP00000360181
Ensembl peptide - ENSP00000477094
NCBI entrez gene - 4068     See in Manteia.
OMIM - 300490
RefSeq - NM_001114937
RefSeq - NM_002351
RefSeq Peptide - NP_001108409
RefSeq Peptide - NP_002342
swissprot - O60880
Ensembl - ENSG00000183918
  
Related genetic diseases (OMIM): 308240 - Lymphoproliferative syndrome, X-linked, 1, 308240
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
 sh2d1abENSDARG00000074854Danio rerio
 SH2D1AENSGALG00000008447Gallus gallus
 O88890ENSMUSG00000005696Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O14796 / SH2D1B / SH2 domain containing 1BENSG0000019857438


Protein motifs (from Interpro)
Interpro ID Name
 IPR000980  SH2 domain
 IPR017289  SH2 protein 1A
 IPR035876  SH2D1A, SH2 domain
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006959 humoral immune response IEA
 biological_processGO:0006968 cellular defense response NAS
 biological_processGO:0007267 cell-cell signaling IDA
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045954 positive regulation of natural killer cell mediated cytotoxicity IEA
 biological_processGO:0050776 regulation of immune response TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005070 SH3/SH2 adaptor activity NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001287 Meningitis 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001876 Pancytopenia 
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 HP:0001903 Anemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002383 Encephalitis 
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 HP:0002480 Hepatic encephalopathy 
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002721 Immunodeficiency 
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 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0004787 Fulminant hepatitis 
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 HP:0005374 Cellular immunodeficiency 
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 HP:0012178 Reduced natural killer cell activity "Reduced ability of the `natural killer cell` (CL:0000623) to function in the adaptive immune response." [HPO:probinson]
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 HP:0100776 Recurrent pharyngitis "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000162739 Q96DU3 / SLAMF6 / SLAM family member 6  / complex / reaction






 

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