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Aliases for MAG Gene

Aliases for MAG Gene

  • Myelin Associated Glycoprotein 2 3 5
  • Sialic Acid Binding Ig-Like Lectin 4A 2 3
  • SIGLEC-4A 3 4
  • GMA 3 4
  • Sialic Acid-Binding Immunoglobulin-Like Lectin 4A 3
  • Myelin-Associated Glycoprotein 3
  • SIGLEC4A 3
  • S-MAG 3
  • SPG75 3

External Ids for MAG Gene

Previous HGNC Symbols for MAG Gene

  • GMA

Previous GeneCards Identifiers for MAG Gene

  • GC19P036400
  • GC19P036231
  • GC19P040459
  • GC19P040474
  • GC19P035783
  • GC19P032291
  • GC19P035787
  • GC19P035956

Summaries for MAG Gene

Entrez Gene Summary for MAG Gene

  • 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]

GeneCards Summary for MAG Gene

MAG (Myelin Associated Glycoprotein) is a Protein Coding gene. Diseases associated with MAG include Spastic Paraplegia 75 and Hereditary Spastic Paraplegia 75. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Spinal Cord Injury. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC10.

UniProtKB/Swiss-Prot for MAG Gene

  • Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAG Gene

Genomics for MAG Gene

Regulatory Elements for MAG Gene

Enhancers for MAG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G035316 2 FANTOM5 Ensembl ENCODE dbSUPER 35.8 +26.6 26602 5.0 HDGF PKNOX1 FOXA2 MLX SIN3A ZNF2 ZBTB7B SLC30A9 ZNF766 FOS MAG KMT2B ZNF792 TMEM147-AS1 HAUS5 CD22 FFAR3 FFAR2 USF2 FXYD5
GH19G035304 1.6 Ensembl ENCODE dbSUPER 41.6 +15.9 15878 6.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT MLX ARID4B ZNF766 CBX5 FOS MAG CD22 LSR HAMP DMKN FAM187B KRTDAP ENSG00000233214 ENSG00000232680 ATP4A
GH19G035328 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +38.9 38949 5.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF416 TMEM147-AS1 MAG KMT2B ZNF792 ZNF146 RBM42 CD22 ENSG00000271032 KRTDAP DMKN
GH19G035208 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -79.7 -79662 7.1 CREB3L1 FEZF1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 NFYC TBX21 MEF2D TMEM147-AS1 HAUS5 ZNF792 KMT2B KIAA0355 RBM42 ENSG00000267049 ENSG00000268947 ENSG00000267219 LRFN3
GH19G035303 0.7 dbSUPER 36.1 +11.8 11776 1.4 HDGF ZIK1 ZMYM3 SALL2 PRDM2 RELA ZNF592 JUND IKZF1 ZNF629 MAG TBCB CD22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAG on UCSC Golden Path with GeneCards custom track

Genomic Location for MAG Gene

Chromosome:
19
Start:
35,292,086 bp from pter
End:
35,313,807 bp from pter
Size:
21,722 bases
Orientation:
Plus strand

Genomic View for MAG Gene

Genes around MAG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAG Gene

Proteins for MAG Gene

  • Protein details for MAG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20916-MAG_HUMAN
    Recommended name:
    Myelin-associated glycoprotein
    Protein Accession:
    P20916
    Secondary Accessions:
    • B7Z2E5
    • F5GYC0
    • Q15489
    • Q567S4

    Protein attributes for MAG Gene

    Size:
    626 amino acids
    Molecular mass:
    69069 Da
    Quaternary structure:
    • Monomer and homodimer (By similarity). Interacts (via the first three N-terminal Ig-like domains) with RTN4R and RTN4RL2 (By similarity).

    Alternative splice isoforms for MAG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAG Gene

Post-translational modifications for MAG Gene

  • N-glycosylated.
  • Phosphorylated on tyrosine residues.
  • Glycosylation at posLast=9999, posLast=106106, posLast=223223, Asn246, posLast=315315, Asn406, posLast=450450, and posLast=454454
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAG (MAG)

Protein Products

No data available for DME Specific Peptides for MAG Gene

Domains & Families for MAG Gene

Suggested Antigen Peptide Sequences for MAG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20916

UniProtKB/Swiss-Prot:

MAG_HUMAN :
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Family:
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
genes like me logo Genes that share domains with MAG: view

Function for MAG Gene

Molecular function for MAG Gene

GENATLAS Biochemistry:
myelin associated glycoprotein,expressed on oligodendrocytes in the CNS and Schwann cells in the peripheral nervous system,interacting with neuronal processes,sialoadhesin family,Ig superfamily
UniProtKB/Swiss-Prot Function:
Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity).

Gene Ontology (GO) - Molecular Function for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0019901 protein kinase binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0033691 sialic acid binding ISS --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with MAG: view
genes like me logo Genes that share phenotypes with MAG: view

Human Phenotype Ontology for MAG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAG Gene

MGI Knock Outs for MAG:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAG Gene

Localization for MAG Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAG Gene

Cell membrane; Single-pass type I membrane protein. Membrane raft.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAG gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAG: view

Pathways & Interactions for MAG Gene

genes like me logo Genes that share pathways with MAG: view

Gene Ontology (GO) - Biological Process for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion ISS --
GO:0007399 nervous system development IEA --
GO:0010977 negative regulation of neuron projection development ISS --
GO:0022010 central nervous system myelination IEA --
GO:0030517 negative regulation of axon extension ISS --
genes like me logo Genes that share ontologies with MAG: view

No data available for SIGNOR curated interactions for MAG Gene

Drugs & Compounds for MAG Gene

(17) Drugs for MAG Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 1692
Antibodies Pharma 6394
Antibodies, Monoclonal Pharma 4039
Antirheumatic Agents Pharma 10956
Immunoglobulins Pharma 6394

(27) Additional Compounds for MAG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAG: view

Transcripts for MAG Gene

Unigene Clusters for MAG Gene

Myelin associated glycoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAG Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8:

Relevant External Links for MAG Gene

GeneLoc Exon Structure for
MAG
ECgene alternative splicing isoforms for
MAG

Expression for MAG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAG Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x17.1), Brain - Substantia nigra (x8.5), Brain - Hippocampus (x4.5), and Brain - Hypothalamus (x4.0).

Protein differential expression in normal tissues from HIPED for MAG Gene

This gene is overexpressed in Frontal cortex (29.9), Spinal cord (27.3), and Brain (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MAG Gene



Protein tissue co-expression partners for MAG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAG Gene:

MAG

SOURCE GeneReport for Unigene cluster for MAG Gene:

Hs.643440

mRNA Expression by UniProt/SwissProt for MAG Gene:

P20916-MAG_HUMAN
Tissue specificity: Both isoform 1 and isoform 2 are detected in myelinated structures in the central and peripheral nervous system, in periaxonal myelin and at Schmidt-Lanterman incisures (PubMed:9495552, PubMed:6200494). Detected in optic nerve, in oligodendroglia and in periaxonal myelin sheaths (PubMed:6200494). Detected in compact myelin (at protein level) (PubMed:6200494). Both isoform 1 and isoform 2 are detected in the central and peripheral nervous system (PubMed:9495552).

Evidence on tissue expression from TISSUES for MAG Gene

  • Nervous system(5)
  • Kidney(3.8)
  • Eye(2)
genes like me logo Genes that share expression patterns with MAG: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAG Gene

Orthologs for MAG Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAG Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia MAG 34 35
  • 92.39 (n)
chimpanzee
(Pan troglodytes)
Mammalia MAG 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAG 34 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Mag 34
  • 88.66 (n)
mouse
(Mus musculus)
Mammalia Mag 34 16 35
  • 87.26 (n)
oppossum
(Monodelphis domestica)
Mammalia MAG 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 22 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MAG 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mag 34
  • 60.04 (n)
zebrafish
(Danio rerio)
Actinopterygii mag 34 35
  • 51.97 (n)
Species where no ortholog for MAG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAG Gene

ENSEMBL:
Gene Tree for MAG (if available)
TreeFam:
Gene Tree for MAG (if available)

Paralogs for MAG Gene

(1) SIMAP similar genes for MAG Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MAG: view

Variants for MAG Gene

Sequence variations from dbSNP and Humsavar for MAG Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs587777229 Pathogenic, Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680] 35,309,930(+) TGCAG(G/T)GCCTG reference, missense
rs762045079 Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680] 35,295,919(+) CTTCC(A/G)TGGGG reference, missense
VAR_076224 Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]
rs2301600 Pathogenic 35,295,965(+) CACAG(C/G/T)GTCCT reference, synonymous-codon
rs147119099 Benign 35,295,609(+) TGCCC(A/G/T)CAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAG Gene

Variant ID Type Subtype PubMed ID
dgv2010e59 CNV duplication 20981092
esv1006379 CNV deletion 20482838
esv1763084 CNV deletion 17803354
esv2758758 CNV loss 17122850
nsv510765 CNV deletion 20534489
nsv833810 CNV gain 17160897
nsv953283 CNV deletion 24416366
nsv9711 CNV loss 18304495

Variation tolerance for MAG Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAG Gene

Human Gene Mutation Database (HGMD)
MAG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAG Gene

Disorders for MAG Gene

MalaCards: The human disease database

(37) MalaCards diseases for MAG Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 75
  • spg75
hereditary spastic paraplegia 75
  • autosomal recessive spastic paraplegia 75
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
polyneuropathy
  • polyneuropathies
chronic polyneuropathy
- elite association - COSMIC cancer census association via MalaCards
Search MAG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAG_HUMAN
  • Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment. {ECO:0000269 PubMed:24482476, ECO:0000269 PubMed:26179919, ECO:0000269 PubMed:27606346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAG

Genetic Association Database (GAD)
MAG
Human Genome Epidemiology (HuGE) Navigator
MAG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAG
genes like me logo Genes that share disorders with MAG: view

No data available for Genatlas for MAG Gene

Publications for MAG Gene

  1. A family-based association study of the myelin-associated glycoprotein and 2',3'-cyclic nucleotide 3'-phosphodiesterase genes with schizophrenia. (PMID: 18496213) Voineskos A.N. … Kennedy J.L. (Psychiatr. Genet. 2008) 3 22 46 64
  2. Identification of the glycosylated sequons of human myelin-associated glycoprotein. (PMID: 7505568) Burger D. … Steck A.J. (Biochem. Biophys. Res. Commun. 1993) 3 4 22 64
  3. cDNA cloning and amino acid sequence for human myelin-associated glycoprotein. (PMID: 2476987) Sato S. … Miyatake T. (Biochem. Biophys. Res. Commun. 1989) 2 3 4 64
  4. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. (PMID: 26179919) Lossos A. … Peles E. (Brain 2015) 3 4 64
  5. Detection of anti-MAG antibodies in polyneuropathy associated with IgM monoclonal gammopathy. (PMID: 19720975) Kuijf M.L. … Jacobs B.C. (Neurology 2009) 3 22 64

Products for MAG Gene

Sources for MAG Gene

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