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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]
SH2B1 (SH2B Adaptor Protein 1) is a Protein Coding gene. Diseases associated with SH2B1 include Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency and Chromosome 16P11.2 Deletion Syndrome, 220-Kb. Among its related pathways are Signaling by GPCR and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and signaling adaptor activity. An important paralog of this gene is SH2B2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 9742218 |
GO:0035591 | signaling adaptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Development HGF signaling pathway |
Development Neurotrophin family signaling
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2 | Growth hormone receptor signaling | ||
3 | Cytokine Signaling in Immune system | ||
4 | Factors involved in megakaryocyte development and platelet production | ||
5 | Response to elevated platelet cytosolic Ca2+ |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | IEA | -- |
GO:0007596 | blood coagulation | TAS | -- |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
GO:0030032 | lamellipodium assembly | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Amisulpride | Approved, Investigational | Pharma | Antagonist | Dopamine D2/D3 receptor antagonist | 59 | |
Aripiprazole | Approved, Investigational | Pharma | Antagonist, Agonist, Full agonist | Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist | 397 | |
Clozapine | Approved | Pharma | Antagonist, Allosteric regulator, Positive, Agonist, Full agonist, Inverse agonist | Antipsychotic medication | 136 | |
Mirtazapine | Approved | Pharma | 105 | |||
Olanzapine | Approved, Investigational | Pharma | Antagonist, Agonist, Full agonist, Inverse agonist | 442 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - |
ExUns: | 14a | · | 14b | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|
SP1: | - | ||||||
SP2: | |||||||
SP3: | - | - | |||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: | |||||||
SP11: | |||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SH2B1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SH2B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SH2B1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sh2b1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sh2b1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SH2B1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SH2B1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SH2B1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.30673 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sh2b1 31 |
|
OneToOne | |
Dr.10574 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Lnk 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720873 | Likely Benign: not provided | 28,866,310(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
721668 | Likely Benign: not provided | 28,867,000(+) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
724019 | Likely Benign: not provided | 28,866,526(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
724777 | Likely Benign: not provided | 28,873,529(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
724928 | Benign: not provided | 28,873,787(+) | C/G | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2830n100 | CNV | gain | 25217958 |
dgv2831n100 | CNV | gain | 25217958 |
dgv4987n54 | CNV | gain | 21841781 |
esv2758640 | CNV | gain+loss | 17122850 |
esv3570454 | CNV | gain | 25503493 |
esv3638349 | CNV | gain | 21293372 |
esv3892826 | CNV | gain+loss | 25118596 |
esv989259 | CNV | gain | 20482838 |
nsv1059555 | CNV | gain | 25217958 |
nsv518648 | CNV | loss | 19592680 |
nsv519100 | CNV | gain | 19592680 |
nsv571805 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency |
|
|
chromosome 16p11.2 deletion syndrome, 220-kb |
|
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chromosome 16p11.2 deletion syndrome, 593-kb |
|
|
chromosome 16p11.2 deletion syndrome |
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leptin deficiency or dysfunction |
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|