Overview

Location [1]
12q24.12
Protein [2]
SH2B adapter protein 3
Synonyms [1]
IDDM20, LNK

SH2B3 is altered in 1.42% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].

SH2B3 GENIE Cases - Top Diseases

The most common alterations in SH2B3 are SH2B3 Mutation (1.23%), SH2B3 Nonsense (0.05%), SH2B3 Amplification (0.05%), SH2B3 Loss (0.03%), and SH2B3 S213R (0.16%) [3].

SH2B3 GENIE Cases - Top Alterations

Significance of SH2B3 in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Mixed Phenotype Acute Leukemia +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

B-Cell Lymphoblastic Lymphoma +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.