MAG (myelin associated glycoprotein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4099
Gene name Myelin associated glycoprotein
Gene symbol MAG
Synonyms (NCBI Gene)
GMAS-MAGSIGLEC-4ASIGLEC4SIGLEC4ASPG75
Chromosome 19
Chromosome location 19q13.12
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-neu
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs2301600 C>A,G,T Pathogenic Synonymous variant, coding sequence variant, missense variant
rs144553163 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs587777229 T>G Pathogenic Coding sequence variant, missense variant
rs771777424 ->AGCTG Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
57
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (57)
miRTarBase ID miRNA Experiments Reference
MIRT454597 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT454596 hsa-miR-3190-5p HITS-CLIP 23313552
MIRT691818 hsa-miR-4786-5p HITS-CLIP 23313552
MIRT454594 hsa-miR-3926 HITS-CLIP 23313552
MIRT454595 hsa-miR-548s HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 26179919
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
159460 6783 ENSG00000105695
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20916
Protein name Myelin-associated glycoprotein (Siglec-4a)
Protein 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 s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08205 C2-set_2 141 → 226 CD80-like C2-set immunoglobulin domain Domain
PF13927 Ig_3 239 → 309 Domain
PF13927 Ig_3 328 → 396 Domain
Tissue specificity 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:6200494, PubMed:9495552). Detected in optic nerve, in olig
Sequence 
MIFLTALPLFWIMISASRGGHWGAWMPSSISAFEGTCVSIPCRFDFPDELRPAVVHGVWY
FNSPYPKNYPPVVFKSRTQVVHESFQGRSRLLGDLGLRNCTLLLSNVSPELGGKYYFRGD
LGGYNQYTFSEHSVLDIVNTPNIVVPPEVVAGTEVEVSCMVPDNCPELRPELSWLGHEGL
GEPAVLGRLREDEGTWVQVSLLHFVPTREANGHRLGCQASFPNTTLQFEGYASMDVKYPP
VIVEMNSSVEAIEGSHVSLLCGADSNPPPLLTWMRDGTVLREAVAESLLLELEEVTPAED
GVYACLAENAYGQDNRTVGLSVMYAPWKPTVNGTMVAVEGETVSILCSTQSNPDPILTIF
KEKQILSTVIYESELQLELPAVSPEDDGEYWCVAENQYGQRATAFNLSVEFAPVLLLESH
CAAARDTVQCLCVVKSNPEPSVAFELPSRNVTVNESEREFVYSERSGLVLTSILTLRGQA
QAPPRVICTARNLYGAKSLELPFQGAHRLMWAKIGPVGAVVAFAILIAIVCYITQTRRKK
NVTESPSFSAGDNPPVLFSSDFRISGAPEKYESERRLGSERRLLGLRGEPPELDLSYSHS
DLGKRPTKDSYTLTEELAEYAEIRVK
Sequence length 626
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cell adhesion molecules   Axonal growth inhibition (RHOA activation)
Basigin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 75 Pathogenic; Likely pathogenic rs587777229, rs770601245, rs2301600, rs2513582014, rs2513601109, rs771777424, rs770788013, rs2066456693, rs2066519362 RCV000106310
RCV001998646
RCV000202409
RCV003338183
RCV003755873
RCV000578368
RCV000814586
RCV001254027
RCV001254028
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia Conflicting classifications of pathogenicity; Uncertain significance rs144553163, rs142375870, rs767886169 RCV000515817
RCV000516012
RCV000516141
MAG-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs201625172, rs144553163, rs140483946, rs113328438, rs200631477, rs149210442, rs143350237, rs199720385, rs147226896, rs35237014, rs141352771, rs142825621 RCV003898700
RCV003925415
RCV004757249
RCV004757269
RCV003938373
RCV003955771
RCV003955772
RCV003908343
RCV003948277
RCV003938364
RCV003975462
RCV003930405
Nonpapillary renal cell carcinoma Conflicting classifications of pathogenicity rs144553163 RCV005899685
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34517518
Arthritis Juvenile Associate 1380541
Arthritis Rheumatoid Associate 1380541
Ataxia Associate 39336794
Cerebellar Diseases Associate 31402626
Cognition Disorders Associate 39336794
Colorectal Neoplasms Associate 32407773
Demyelinating Diseases Associate 22491194, 31402626
Developmental Disabilities Associate 31402626
Epilepsy Partial with Variable Foci Associate 27874947