MAG myelin associated glycoprotein [Homo sapiens (human)] - Gene

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.
Title: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.
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.
polyneuropathy associated with anti-MAG antibodies is less homogeneous.
Title: Heterogeneity of Polyneuropathy Associated with Anti-MAG Antibodies.
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S609 (e-PCR)
- UniSTS:150285

WI-15623 (e-PCR)
- UniSTS:50967

RH80561 (e-PCR)
- UniSTS:89434

Mag (e-PCR), detects polymorphism
- UniSTS:495846

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 more info	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

NG_034078.1 RefSeqGene

Range

5076..26722

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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