Free for academic non-profit institutions. Other users need a Commercial license
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]
MAG (Myelin Associated Glycoprotein) is a Protein Coding gene. Diseases associated with MAG include Spastic Paraplegia 75, Autosomal Recessive and Polyneuropathy. Among its related pathways are Neuroscience and Guidance Cues and Growth Cone Motility. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC11.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH19J035293 | Enhancer | 1 | FANTOM5 Ensembl dbSUPER | 634.4 | +1.8 | 1776 | 1.7 | TEAD4 EGR1 ZEB1 ZBTB17 NFIC ZFHX2 BCOR NFIB ZMYM3 KDM1A | MAG LSR LGI4 CD22 FXYD1 FXYD7 HPN SCN1B ARHGAP33 ZNF30 | |
GH19J035290 | Enhancer | 0.6 | FANTOM5 dbSUPER | 614.3 | -1.1 | -1086 | 0.4 | ZFHX2 ZNF398 KLF1 | MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 LGI4 HPN FXYD7 | |
GH19J035291 | Enhancer | 0.6 | Ensembl dbSUPER | 600.7 | -0.6 | -585 | 0.2 | ZFHX2 ZNF687 EGR2 | MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 lnc-FAM187B-4 HAMP | |
GH19J035292 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 600.7 | +0.1 | 56 | 0.1 | MAG RF00017-2943 CD22 | ||
GH19J035304 | Promoter/Enhancer | 1.7 | EPDnew ENCODE CraniofacialAtlas dbSUPER | 41.6 | +15.9 | 15877 | 6.2 | RNF2 CREB1 GATAD2A CTCF TFE3 LEF1 IKZF1 KDM1A JUND DDX20 | CD22 MAG LSR HAMP ENSG00000267049 DMKN FAM187B ZBTB32 KRTDAP ENSG00000233214 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0008289 | lipid binding | IEA | -- |
GO:0019901 | protein kinase binding | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:0033691 | sialic acid binding | IBA,ISS | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling | ||
2 | Neuroscience | ||
3 | Cell adhesion molecules (CAMs) | ||
4 | Guidance Cues and Growth Cone Motility |
Guidance Cues and Growth Cone Motility
-
|
|
5 | NgR-p75(NTR)-Mediated Signaling |
NgR-p75(NTR)-Mediated Signaling
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IBA,ISS | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0010977 | negative regulation of neuron projection development | ISS | -- |
GO:0019226 | transmission of nerve impulse | IEA | -- |
GO:0022010 | central nervous system myelination | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | MAG 30 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | MAG 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAG 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mag 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mag 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAG 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | MAG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mag 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mag 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639292 | Uncertain Significance: Spastic paraplegia 75, autosomal recessive | 35,300,333(+) | A/G | MISSENSE_VARIANT | |
641864 | Uncertain Significance: Spastic paraplegia 75, autosomal recessive | 35,299,826(+) | G/A | MISSENSE_VARIANT | |
654572 | Uncertain Significance: Spastic paraplegia 75, autosomal recessive | 35,302,535(+) | C/T | MISSENSE_VARIANT | |
657878 | Uncertain Significance: Spastic paraplegia 75, autosomal recessive | 35,295,894(+) | G/T | NONSENSE | |
660792 | Uncertain Significance: Spastic paraplegia 75, autosomal recessive | 35,309,907(+) | C/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 75, autosomal recessive |
|
|
polyneuropathy |
|
|
demyelinating polyneuropathy |
|
|
optic neuritis |
|
|
chronic polyneuropathy |
|
|