SH2B3

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]

Description

SH2B adaptor protein 3

Tissue specificity

Tissue enhanced (bone marrow)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (111405923 - 111451623)

Ensembl ID

ENSG00000111252  (ver. 103.38)

Orthologs

Mouse Sh2b3: ENSMUSG00000042594

UniProt

Q9UQQ2

neXtProt

NX_Q9UQQ2

Human splice variants
Mouse splice variants

Protein structure