MAG Gene (Myelin Associated Glycoprotein)

Key player in myelin maintenance and neural function

Gene Information Card

Symbol MAG
Full Name myelin associated glycoprotein
Gene Type protein coding
Chromosomal Location 19q13.12
NCBI Gene ID 4099 ncbi.nlm.nih.gov/gene/4099
Ensembl ID ENSG00000105695
UniProt ID P20916
OMIM ID 159460
HGNC ID 6783
Aliases GMA, S-MAG, L-MAG, siglec-4a

Description

The MAG gene encodes myelin associated glycoprotein, a type I transmembrane protein and member of the SIGLEC family. It is expressed in oligodendrocytes and Schwann cells, playing a critical role in myelin formation, maintenance, and axon-glia interactions. MAG is involved in signal transduction and inhibition of neurite outgrowth in the adult central nervous system.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Spastic paraplegia 75 (SPG75) Loss-of-function mutations in MAG disrupt myelin maintenance, leading to axonal degeneration and spasticity. OMIM #616680
Multiple sclerosis Autoimmune attack on myelin may involve MAG as a target antigen; altered MAG expression correlates with demyelination. NCBI Gene, PubMed
Schizophrenia Genetic variants in MAG have been associated with altered white matter integrity and increased risk. OMIM, ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 45.2 High
Spinal cord 38.1 High
Peripheral nerve 25.6 Medium
Testis 1.2 Low
Heart 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
Oligodendrocytes High Major cell type expressing MAG
Schwann cells High Peripheral nervous system expression
SH-SY5Y 0.3 Low expression in neuroblastoma line
HEK293 0.1 Not detected
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1192C>T (p.Arg398*) Nonsense <0.01% Loss of function; associated with SPG75
c.1670G>A (p.Arg557His) Missense <0.01% Impaired myelin binding; pathogenic in SPG75
c.2020C>T (p.Arg674Trp) Missense <0.01% Reduced protein stability; uncertain significance
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with spastic paraplegia 75.

Gain of Function (GOF)

Not reported for MAG.

Dominant Negative (DN)

Not reported for MAG.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/4099
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAG

Gene Ontology (GO)

• cell adhesion (GO:0007155) • nervous system development (GO:0007399)
• axon ensheathment (GO:0008366) • positive regulation of gene expression (GO:0010628)
• cell differentiation (GO:0030154) • synapse (GO:0045202)

Pathways

• Myelination (Reactome: R-HSA-9610072)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• SIGLEC signaling (Reactome: R-HSA-198933)

Protein Summary

Myelin associated glycoprotein (MAG) is a 626-amino acid type I transmembrane protein with an extracellular domain containing five immunoglobulin-like domains and a sialic acid binding site characteristic of SIGLECs. It exists in two isoforms: L-MAG (large) and S-MAG (small), generated by alternative splicing. MAG is localized to the periaxonal membrane of myelin sheaths and mediates adhesion between glial cells and axons. It also inhibits neurite outgrowth in the adult CNS via interaction with Nogo receptors.

Related Services

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Related Products

Product name Cat.No. Species Gene ID
MAGI1 Knockout HEK293 Cell Line EDJ-KQ835 Human 9223 Details Get a Quote
MAGI2 Knockout HEK293 Cell Line EDJ-KQ836 Human 9863 Details Get a Quote
MAGI3 Knockout HEK293 Cell Line EDJ-KQ1306 Human 260425 Details Get a Quote
MAG Knockout HEK293 Cell Line EDJ-KQ2540 Human 4099 Details Get a Quote
MAGEA1 Knockout HEK293 Cell Line EDJ-KQ3324 Human 4100 Details Get a Quote
MAGEA11 Knockout HEK293 Cell Line EDJ-KQ4386 Human 4110 Details Get a Quote
MAGEA8 Knockout HEK293 Cell Line EDJ-KQ5159 Human 4107 Details Get a Quote
MAGEA12 Knockout HEK293 Cell Line EDJ-KQ5161 Human 4111 Details Get a Quote
MAGEB2 Knockout HEK293 Cell Line EDJ-KQ5162 Human 4113 Details Get a Quote
MAGEB3 Knockout HEK293 Cell Line EDJ-KQ5163 Human 4114 Details Get a Quote
MAGEA10 Knockout HEK293 Cell Line EDJ-KQ5165 Human 4109 Details Get a Quote
MAGEB1 Knockout HEK293 Cell Line EDJ-KQ5169 Human 4112 Details Get a Quote
MAGED1 Knockout HEK293 Cell Line EDJ-KQ6611 Human 9500 Details Get a Quote
MAGED2 Knockout HEK293 Cell Line EDJ-KQ7211 Human 10916 Details Get a Quote
MAGEH1 Knockout HEK293 Cell Line EDJ-KQ8955 Human 28986 Details Get a Quote
Displaying Records 1 To 15 Of 176 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/4099
OMIM https://www.omim.org/entry/159460
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6783
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105695
UniProt https://www.uniprot.org/uniprot/P20916
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=MAG%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MAG
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