SH2B1 Gene Summary [Human]
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | SH2B1 |
| Official Name | SH2B adaptor protein 1 [Source:HGNC Symbol;Acc:HGNC:30417] |
| Ensembl ID | ENSG00000178188 |
| Bio databases IDs | |
| Aliases | SH2B adaptor protein 1, SH2-B homolog |
| Synonyms | C530001K22RIK, Irip, mKIAA1299, PSM, SH2-B, SH2B adaptor protein 1, Sh2-B alpha, SH2-Bb, Sh2bpsm1, Sh2-B α, Sh2-b β |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SH2B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- dimerization domain
- Jak2 binding domain
- Phenylalanine zipper
- Src homology 2 (SH2) domain
- protein binding
- Pleckstrin homology-like domain
- proline rich domain
Pathways
Biological processes and signaling networks where the SH2B1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- hyperinsulinism
- insulin resistance
- hyperlipidemia
- hyperglycemia
- ulcerative colitis
- impaired glucose tolerance
- overnutrition
- inflammatory bowel disease
- hypoplasia
role in cell
- expression in
- activation in
- signaling in
- quantity
- phosphorylation in
- migration
- expansion
- differentiation
- motility
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ruffle
- Nucleus
- Plasma Membrane
- cytosol
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH2B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell motility
- regulation of DNA biosynthetic process
- lamellipodium assembly
- transmembrane receptor protein tyrosine kinase signaling pathway
- positive regulation of SMAD protein import into nucleus
- positive regulation of mitosis
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- transmembrane receptor protein tyrosine kinase adaptor activity