Gene
sh2b3
- ID
- ZDB-GENE-041210-359
- Name
- SH2B adaptor protein 3
- Symbol
- sh2b3 Nomenclature History
- Previous Names
-
- DKEYP-10C7.2
- si:dkeyp-1e8.2
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in intracellular signal transduction. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in essential thrombocythemia; familial erythrocytosis 1; and myelofibrosis. Orthologous to human SH2B3 (SH2B adaptor protein 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| essential thrombocythemia | Alliance | Thrombocythemia, somatic | 187950 |
| familial erythrocytosis 1 | Alliance | Erythrocytosis, somatic | 133100 |
| myelofibrosis | Alliance | Myelofibrosis, somatic | 254450 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000980 | SH2 domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR015012 | Phenylalanine zipper |
| Family | IPR030523 | SH2B adapter protein |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036290 | Phenylalanine zipper superfamily |
| Homologous_superfamily | IPR036860 | SH2 domain superfamily |
Domain Details Per Protein
| Protein | Length | Phenylalanine zipper | Phenylalanine zipper superfamily | PH-like domain superfamily | Pleckstrin homology domain | SH2B adapter protein | SH2 domain | SH2 domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6YZ82
|
656 |
Interactions and Pathways
No data available
Plasmids
No data available