MGA Gene - MAX Dimerization Protein

Transcriptional Regulator and Tumor Suppressor

Gene Information Card

Symbol MGA
Full Name MAX dimerization protein
Gene Type Protein coding
Chromosomal Location 15q14
NCBI Gene ID 23269 ncbi.nlm.nih.gov/gene/23269
Ensembl ID ENSG00000137868
UniProt ID Q8IWI9
OMIM ID 616197
HGNC ID 14010
Aliases MXD5, MAD5, bHLHc35

Description

MGA (MAX dimerization protein) encodes a basic helix-loop-helix leucine zipper (bHLHZ) transcription factor that heterodimerizes with MAX to repress transcription of MYC target genes. It functions as a tumor suppressor by regulating cell proliferation and differentiation. The gene is located on chromosome 15q14 and is associated with various cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Lung cancer Loss of MGA expression leads to derepression of MYC target genes, promoting proliferation COSMIC, ClinVar
Colorectal cancer Inactivating mutations and deletions of MGA contribute to tumorigenesis COSMIC, ClinVar
Breast cancer Reduced MGA expression correlates with poor prognosis NCBI, PubMed
Pancreatic cancer MGA mutations identified in tumor samples COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Lung 6.1 Low
Colon 5.4 Low
Breast 4.8 Low
Cell Line Expression
Cell Line nTPM Notes
A549 (lung) 7.3 Low
HCT116 (colon) 6.9 Low
MCF7 (breast) 5.2 Low
HEK293 (embryonic kidney) 9.1 Low
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <1% Loss of function
c.567_568del (p.Glu190fs) Frameshift <1% Loss of function
c.2345G>A (p.Arg782Gln) Missense <1% Unknown
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations truncate the protein, impairing DNA binding and transcriptional repression.

Gain of Function (GOF)

No evidence of gain-of-function mutations in MGA.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Pathways

• MYC pathway (repression of MYC target genes)
• MAX network

Protein Summary

MGA is a 2,963-amino acid protein containing a bHLHZip domain that mediates dimerization with MAX. It binds to E-box DNA sequences to repress transcription of MYC-responsive genes. The protein is predominantly nuclear and plays a critical role in cell cycle control and differentiation. Loss of MGA function is implicated in multiple cancers.

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MGA Knockout A-549 Cell Line EDJ-KQ22931 Human 23269 Details Get a Quote
MGA Knockout HCT 116 Cell Line EDJ-KQ22932 Human 23269 Details Get a Quote
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