SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.[5][6][7]
| SH2B1 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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2HDV, 2HDX |
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| Identifiers |
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| Aliases | SH2B1, PSM, SH2B, SH2B adaptor protein 1 |
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| External IDs | OMIM: 608937 MGI: 1201407 HomoloGene: 32122 GeneCards: SH2B1 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 16 (human)[1] |
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| | Band | 16p11.2 | Start | 28,846,600 bp[1] |
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| End | 28,874,212 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7 F3|7 69.06 cM | Start | 126,466,994 bp[2] |
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| End | 126,475,424 bp[2] |
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| RNA expression pattern |
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 | | More reference expression data |
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| Gene ontology |
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| Molecular function | • signaling adaptor activity
• GO:0001948 protein binding
• transmembrane receptor protein tyrosine kinase adaptor activity
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| Cellular component | • cytosol
• cell nucleus
• membrane
• cytoplasm
• cell membrane
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| Biological process | • positive regulation of signal transduction
• positive regulation of mitotic nuclear division
• blood coagulation
• lamellipodium assembly
• signal transduction
• regulation of DNA biosynthetic process
• transmembrane receptor protein tyrosine kinase signaling pathway
• GO:0007243 intracellular signal transduction
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| Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | NM_001145795
NM_001145796
NM_001145797
NM_001145812
NM_001308293
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NM_001308294
NM_015503 |
| NM_001081459
NM_001289538
NM_001289539
NM_001289540
NM_001289541
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NM_001289542
NM_011363 |
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| RefSeq (protein) | NP_001139267
NP_001139268
NP_001139269
NP_001139284
NP_001295222
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NP_001295223
NP_056318 |
| NP_001074928
NP_001276467
NP_001276468
NP_001276469
NP_001276470
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NP_001276471
NP_035493 |
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| Location (UCSC) | Chr 16: 28.85 – 28.87 Mb | Chr 7: 126.47 – 126.48 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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InteractionsEditSH2B1 has been shown to interact with:
- Grb2,[8][9]
- Insulin receptor,[6][9]
- Janus kinase 2,[10][11] and
- TrkA.[8][12]
Clinical significanceEditVariations close to or in the SH2B1 gene have been found to associate with obesity in two very large genome wide association studies of body mass index (BMI).[13][14] Furthermore, SH2B1 deletions are associated with severe early-onset obesity.[15]
