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MAG myelin associated glycoprotein [ Homo sapiens (human) ]

Gene ID: 4099, updated on 2-Nov-2024

Summary

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Official Symbol
MAGprovided by HGNC
Official Full Name
myelin associated glycoproteinprovided by HGNC
Primary source
HGNC:HGNC:6783
See related
Ensembl:ENSG00000105695 MIM:159460; AllianceGenome:HGNC:6783
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GMA; S-MAG; SPG75; SIGLEC4; SIGLEC4A; SIGLEC-4A
Summary
The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]
Expression
Biased expression in brain (RPKM 53.6) and ovary (RPKM 16.9) See more
Orthologs
mouse all
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Genomic context

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See MAG in Genome Data Viewer
Location:
19q13.12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35292161..35313807)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37836825..37858521)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35783064..35804710)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35761221-35761960 Neighboring gene upstream transcription factor 2, c-fos interacting Neighboring gene HNF4 motif-containing MPRA enhancer 344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35773293-35773802 Neighboring gene hepcidin antimicrobial peptide Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35795633-35796520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35802349-35802850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35802851-35803350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14470 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35824208-35824417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14472 Neighboring gene CD22 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35831571-35832072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14475 Neighboring gene MPRA-validated peak3448 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14477 Neighboring gene microRNA 5196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35843089-35843955 Neighboring gene free fatty acid receptor 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Polymorphisms of myelin-associated glycoprotein gene are associated with schizophrenia in the Chinese Han population. Wan C, et al. Neurosci Lett, 2005 Nov 18. PMID 16039057
  2. Myelin-associated glycoprotein in demyelinating disorders. Quarles RH. Crit Rev Neurobiol, 1989. PMID 2475262
  3. cDNA cloning and amino acid sequence for human myelin-associated glycoprotein. Sato S, et al. Biochem Biophys Res Commun, 1989 Sep 29. PMID 2476987
  4. Molecular cloning of human myelin-associated glycoprotein. Spagnol G, et al. J Neurosci Res, 1989 Oct. PMID 2479762
  5. Modulated adhesion: a proposal for the role of myelin-associated glycoprotein in myelin wrapping. Attia J, et al. Clin Chem, 1989 May. PMID 2655996

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Myelin-associated proteins are potential diagnostic markers in patients with primary brain tumour.
    Title: Myelin-associated proteins are potential diagnostic markers in patients with primary brain tumour.
  2. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Title: Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
  3. Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.
    Title: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.
  4. we observed two-way correlations between the MOG and MAG levels and the fractional anisotropy and mean diffusivity values in the white matter of the left middle frontal lobe, right inferior parietal lobe, and right supplementary motor area in major depressive disorder patients
    Title: Association between abnormal serum myelin-specific protein levels and white matter integrity in first-episode and drug-naïve patients with major depressive disorder.
  5. polyneuropathy associated with anti-MAG antibodies is less homogeneous.
    Title: Heterogeneity of Polyneuropathy Associated with Anti-MAG Antibodies.
  6. This study identify involvement of myelin-associated glycoprotein in this family with a disorder affecting the central and peripheral nervous system, and suggest that loss of the protein function is responsible for the unique clinical phenotype
    Title: Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
  7. Results show that MAG is important for axon-glia contact in a model for Charcot-Marie-Tooth disease type 1A, and suggest that its increased expression in patients has a compensatory role in the disease pathology
    Title: An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease.
  8. LRP1 assembles unique co-receptor systems to initiate cell signaling in response to tissue-type plasminogen activator and myelin-associated glycoprotein.
    Title: LRP1 assembles unique co-receptor systems to initiate cell signaling in response to tissue-type plasminogen activator and myelin-associated glycoprotein.
  9. Increased serum levels of MAG (and MBP) were found in autistic patients with allergic manifestations compared to those without these manifestations.
    Title: The possible relationship between allergic manifestations and elevated serum levels of brain specific auto-antibodies in autistic children.
  10. Primary mitochondrial respiratory chain defects affecting the white matter, and unrelated to inflammation, are associated with MAG loss and central nervous system demyelination.
    Title: Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 75
MedGen: C4225250 OMIM: 616680 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 binds to myelin associated glycoprotein (MAG), an autoantigen in demyelinating neuropathy PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CD22

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables ganglioside GT1b binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
  
enables sialic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sialic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables signaling receptor binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in axon regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell-cell adhesion via plasma-membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in central nervous system myelin formation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
  
involved_in substantia nigra development HEP PubMed 
involved_in transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
  
located_in compact myelin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
located_in mesaxon IEA
Inferred from Electronic Annotation
more info
  
located_in myelin sheath IDA
Inferred from Direct Assay
more info
 PubMed 
located_in myelin sheath adaxonal region IEA
Inferred from Electronic Annotation
more info
  
located_in paranode region of axon IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
myelin-associated glycoprotein
Names
sialic acid binding Ig-like lectin 4A
sialic acid-binding immunoglobulin-like lectin 4A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034078.1 RefSeqGene

    Range
    5076..26722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199216.2 → NP_001186145.1  myelin-associated glycoprotein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AK308976, BC093045
    Consensus CDS
    CCDS56090.1
    UniProtKB/TrEMBL
    Q53ES7, Q53HA1
    Related
    ENSP00000440695.1, ENST00000537831.2
    Conserved Domains (5) summary
    cd05712
    Location:1 → 114
    Ig_Siglec_N; Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins)
    smart00408
    Location:314 → 374
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:308 → 384
    IG_like; Immunoglobulin like
    pfam07679
    Location:215 → 297
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:116 → 198
    Ig; Immunoglobulin domain

  2. NM_002361.4 → NP_002352.1  myelin-associated glycoprotein isoform a precursor

    See identical proteins and their annotated locations for NP_002352.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks exon 11 and has the stop codon in exon 12, as compared to variant 2. Isoform a is 44 aa longer and contains a different carboxy terminus when compared to isoform b.
    Source sequence(s)
    AK223562, BC093045
    Consensus CDS
    CCDS12455.1
    UniProtKB/Swiss-Prot
    B7Z2E5, F5GYC0, P20916, Q15489, Q567S4
    UniProtKB/TrEMBL
    Q53ES7, Q53HA1
    Related
    ENSP00000376048.2, ENST00000392213.8
    Conserved Domains (4) summary
    cd05712
    Location:22 → 139
    Ig_Siglec_N; Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins)
    smart00410
    Location:333 → 409
    IG_like; Immunoglobulin like
    pfam13927
    Location:239 → 309
    Ig_3; Immunoglobulin domain
    cl11960
    Location:141 → 223
    Ig; Immunoglobulin domain

  3. NM_080600.3 → NP_542167.1  myelin-associated glycoprotein isoform b precursor

    See identical proteins and their annotated locations for NP_542167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is a full-length transcript with the stop codon contained in exon 11. It encodes an isoform (b) that is 44 aa shorter and contains a different carboxy terminus when compared to isoform a.
    Source sequence(s)
    BC093045
    Consensus CDS
    CCDS12456.1
    UniProtKB/TrEMBL
    Q53ES7
    Related
    ENSP00000355234.4, ENST00000361922.8
    Conserved Domains (5) summary
    cd05712
    Location:22 → 139
    Ig_Siglec_N; Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins)
    smart00408
    Location:339 → 399
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:333 → 409
    IG_like; Immunoglobulin like
    pfam07679
    Location:240 → 322
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:141 → 223
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35292161..35313807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37836825..37858521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20916.1 GenPept UniProtKB/Swiss-Prot:P20916

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