MBD4: Gene Detail - Cancer Knowledgebase (CKB)

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Gene Symbol

MBD4

Synonyms

MED1 | TPDS2 | UVM1

Gene Description

MBD4, methyl-CpG binding domain 4, DNA glycosylase, removes base lesions to initiate DNA repair (PMID: 23195996), and plays a role in inhibition of mutagenesis (PMID: 12417741) and epigenetic regulation (PMID: 30049810). MBD4 mutations have been identified in colorectal (PMID: 17384679), gastric (PMID: 12430186), endometrial, and pancreatic cancers (PMID: 10545939), and germline MBD4 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (PMID: 32239153).

NCBI Gene ID	Chromosome	Map Location	Canonical Transcript	Gene Role
8930	3	3q21.3	NM_003925	Unknown

Additional content available in

CKB BOOST

Gene Variants 16
Category Variants 2
Molecular Profiles 19
Evidence 4
Clinical Trials 0

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The public access version, CKB CORE™, encompasses 50 cancer-related genes, and every quarter, a select group of genes are exchanged, focusing on a specific theme. Users can search CKB CORE™ via gene and gene variants. The web-based, subscription version, CKB BOOST™, includes more than 2000 cancer-related genes and is designed to interrogate the knowledgebase for specific data attributes while enabling a robust browse-like feature when the desired content is unknown.

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MBD4 - Gene Detail

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