SH2B1 - SH2B adaptor protein 1 Gene
Also Known as PSM; SH2B
Species: Homo sapiens
About SH2B1
This gene has 17 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues.
Summary
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 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145795.2 | NP_001139267.1 | SH2B adapter protein 1 isoform 1 |
| NM_001145796.2 | NP_001139268.1 | SH2B adapter protein 1 isoform 2 |
| NM_001145797.2 | NP_001139269.1 | SH2B adapter protein 1 isoform 3 |
| NM_001145812.2 | NP_001139284.1 | SH2B adapter protein 1 isoform 2 |
| NM_001308293.2 | NP_001295222.1 | SH2B adapter protein 1 isoform 1 |
| NM_001308294.2 | NP_001295223.1 | SH2B adapter protein 1 isoform 4 |
| NM_001387404.1 | NP_001374333.1 | SH2B adapter protein 1 isoform 1 |
| NM_001387430.1 | NP_001374359.1 | SH2B adapter protein 1 isoform 1 |
| NM_015503.3 | NP_056318.2 | SH2B adapter protein 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9742218 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within positive regulation of SMAD protein signal transduction |
IGI
IGI: Inferred from genetic interaction
|
28334068 | GOA |
SH2B1 Protein Structure
Phe_ZIP: Phenylalanine zipper (24 - 81)
PH: PH domain (282 - 376)
SH2: SH2 domain (527 - 604)
- 0
- 200
- 400
- 600
- 756 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
SH2B adapter protein 1 |
|
SH2B1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SH2B1 | Q9NRF2 | EGFR | Homo sapiens | P00533 | 16273093 | |
|
Intra
|
SH2B1 | Q9NRF2 | INSR | Homo sapiens | P06213 | 9742218 | |
|
Intra
|
SH2B1 | Q9NRF2 | INSR | Homo sapiens | P06213 | 9742218 | |
|
Cross
|
SH2B1 | Q9NRF2 | Stat3 | Mus musculus | P42227 | 24396070 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency |
|
|
| Chromosome 16p11.2 Deletion Syndrome |
|
|
| Chromosome 16p11.2 Deletion Syndrome, 220-Kb |
|
|
| Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
|
|
| Premature Menopause |
|
|
| Leptin Deficiency Or Dysfunction |
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
|
| Sotos Syndrome |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SH2B1 | VGNC | VGNC:77350 |
| Rattus norvegicus | SH2B1 | RGD | RGD:620132 |
| Felis catus | SH2B1 | VGNC | VGNC:65088 |
| Canis familiaris | SH2B1 | VGNC | VGNC:46109 |
| Bos taurus | SH2B1 | VGNC | VGNC:34555 |
| Mus musculus | SH2B1 | MGD | MGI:1201407 |
| Others | SH2B1 | NCBI |