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 enable transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within signal transduction. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in colorectal cancer; essential thrombocythemia; familial erythrocytosis 1; myelofibrosis; and type 1 diabetes mellitus. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| gl45 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| gl46 | Allele with one delins | Exon 1 | Unknown | CRISPR | |
| gl47 | Allele with one delins | Exon 1 | Unknown | CRISPR | |
| gl48 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| gl49 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| gl50 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| gl51 | Allele with one deletion | Exon 1 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sh2b3 | Höijer et al., 2022 | |
| CRISPR2-sh2b3 | Blombery et al., 2023 | |
| CRISPR3-sh2b3 | Blombery et al., 2023 | |
| CRISPR4-sh2b3 | Blombery et al., 2023 |
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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 |
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Domain, Family, and Site Summary
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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-1E8 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-10C7 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_017356229 (1) | |||
| Genomic | GenBank:BX571679 (2) | 137050 nt | ||
| Polypeptide | UniProtKB:A0A8M6YZ82 (1) | 656 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | SH2B3 | 12 | Amino acid sequence comparison (1) |
- Blombery, P., Pazhakh, V., Albuquerque, A.S., Maimaris, J., Tu, L., Briones Miranda, B., Evans, F., Thompson, E.R., Carpenter, B., Proctor, I., Curtin, J.A., Lambert, J., Burns, S.O., Lieschke, G.J. (2023) Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity. EJHaem. 4:463469463-469
- Geng, Y., Zhang, T., Alonzo, I.G., Godar, S.C., Yates, C., Pluimer, B.R., Harrison, D.L., Nath, A.K., Yeh, J.J., Drummond, I.A., Bortolato, M., Peterson, R.T. (2022) Top2a promotes the development of social behavior via PRC2 and H3K27me3. Science advances. 8:eabm7069
- Höijer, I., Emmanouilidou, A., Östlund, R., van Schendel, R., Bozorgpana, S., Tijsterman, M., Feuk, L., Gyllensten, U., den Hoed, M., Ameur, A. (2022) CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations. Nature communications. 13:627
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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