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Gene : SH2B3 Homo sapiens

Name  ? SH2B adaptor protein 3 Cytological Location  12q24.12
Brief Description  SH2B adaptor protein 3
Description  This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
  • synonyms:
  • OTTHUMG00000169550,
  • SH2B3,
  • NM_005475,
  • IDDM20,
  • HGNC:29605,
  • LNK,
  • AF055581,
  • IDDM20,
  • uc001tse.3,
  • LNK,
  • lymphocyte adaptor protein
  • identifiers:
  • 10019,
  • ENSG00000111252,
  • SH2B3

Genome feature

Region: gene ? Length: 46517  
Location: 12:111405107-111451623 Cyto location: 12q24.12


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

538 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results