MAGEB16

MAGE Family Member B16

Gene Information Card

Symbol MAGEB16
Full Name MAGE family member B16
Gene Type protein-coding
Chromosomal Location Xp11.22
NCBI Gene ID 139604 ncbi.nlm.nih.gov/gene/139604
Ensembl ID ENSG00000168916
UniProt ID Q96M61
OMIM ID 300761
HGNC ID 17967
Aliases MAGE-B16, MAGEB16A, MAGEB16B

Description

MAGEB16 is a member of the melanoma-associated antigen (MAGE) family, specifically the MAGE-B subfamily. It is located on chromosome Xp11.22 and encodes a protein of unknown function. MAGEB16 is classified as a cancer-testis antigen, with expression predominantly in testis and aberrant activation in various cancers. Its biological role may involve regulation of cell cycle or apoptosis, but detailed mechanisms remain to be elucidated.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Aberrant expression as cancer-testis antigen; potential immunotherapeutic target Expression observed in tumor samples (COSMIC)

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.0 Not detected (GTEx median nTPM < 0.1)
Other tissues 0.0 No significant expression in normal tissues
Cell Line Expression
Cell Line nTPM Notes
NTERA-2 (embryonal carcinoma) 0.0 No detectable expression in RNA-seq
HeLa 0.0 No detectable expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.1% Potential start-loss, likely loss-of-function
c.100C>T (p.Arg34Trp) missense <0.1% Unknown significance
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function variants reported.

Gain of Function (GOF)

No confirmed gain-of-function variants reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Protein Summary

The MAGEB16 protein (UniProt Q96M61) is 346 amino acids long and contains a MAGE homology domain. Its exact function is unknown, but it is predicted to localize to the nucleus. No enzymatic activity or binding partners have been experimentally validated.

Related Products

Product name Cat.No. Species Gene ID
MAGEB16 Knockout HEK293 Cell Line EDJ-KQ9587 Human 139604 Details Get a Quote
MAGEB16 Knockout HeLa Cell Line EDJ-KQ58417 Human 139604 Details Get a Quote
MAGEB16 Knockout A-549 Cell Line EDJ-KQ66906 Human 139604 Details Get a Quote
MAGEB16 Knockout HCT 116 Cell Line EDJ-KQ75309 Human 139604 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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