B2M - Gene Detail

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Gene Symbol B2M
Synonyms AMYLD6 | IMD43 | MHC1D4
Gene Description B2M, beta-2-microglobulin, forms the light chain of the class I major histocompatibility complex (MHC) (PMID: 3312414) and is required for antigen presentation during the immune response (PMID: 27433843). B2M loss of function mutations have been associated with mismatch repair (MMR) deficiency in colon cancer (PMID: 28616688) and with acquired resistance to immune checkpoint inhibitors in melanoma (PMID: 27433843, PMID: 30466478).
NCBI Gene ID Chromosome Map Location Canonical Transcript MANE Select Gene Role
567 15 15q21.1 NM_004048 Y Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Molecular Profile Protein Effect Treatment Approaches
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries