• Gene id: 4099

Gene Summary

• Gene Symbol: MAG   Gene   UCSC   Ensembl
• Aliases: GMA, S-MAG, SIGLEC-4A, SIGLEC4A, SPG75
• Gene name: myelin associated glycoprotein
• Alternate names: myelin-associated glycoprotein, sialic acid binding Ig-like lectin 4A, sialic acid-binding immunoglobulin-like lectin 4A,
• Gene location: 19q13.12 (35292085: 35313806)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P20916  
  • Name: Myelin associated glycoprotein (Siglec 4a)
  • Length: 626  
  • Mass: 69069
  • 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
• Sequence:

  MIFLTALPLFWIMISASRGGHWGAWMPSSISAFEGTCVSIPCRFDFPDELRPAVVHGVWYFNSPYPKNYPPVVFK
  SRTQVVHESFQGRSRLLGDLGLRNCTLLLSNVSPELGGKYYFRGDLGGYNQYTFSEHSVLDIVNTPNIVVPPEVV
  AGTEVEVSCMVPDNCPELRPELSWLGHEGLGEPAVLGRLREDEGTWVQVSLLHFVPTREANGHRLGCQASFPNTT
  LQFEGYASMDVKYPPVIVEMNSSVEAIEGSHVSLLCGADSNPPPLLTWMRDGTVLREAVAESLLLELEEVTPAED
  GVYACLAENAYGQDNRTVGLSVMYAPWKPTVNGTMVAVEGETVSILCSTQSNPDPILTIFKEKQILSTVIYESEL
  QLELPAVSPEDDGEYWCVAENQYGQRATAFNLSVEFAPVLLLESHCAAARDTVQCLCVVKSNPEPSVAFELPSRN
  VTVNESEREFVYSERSGLVLTSILTLRGQAQAPPRVICTARNLYGAKSLELPFQGAHRLMWAKIGPVGAVVAFAI
  LIAIVCYITQTRRKKNVTESPSFSAGDNPPVLFSSDFRISGAPEKYESERRLGSERRLLGLRGEPPELDLSYSHS
  DLGKRPTKDSYTLTEELAEYAEIRVK

• Structural information:
  • Protein Domains: (22..12-)
    (/note="Ig-like-V-type)
    (139..23-)
    1 (/note="Ig-like-C2-type)
    (241..32-)
    2 (/note="Ig-like-C2-type)
    (327..41-)
    3 (/note="Ig-like-C2-type)
    (413..50-)
    4" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  
  • Prosite: PS50835
  • DIP: 58523
  • STRING: ENSP00000376048
• Other Databases: GeneCards:  MAG  Malacards:  MAG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0007155	cell adhesion	IBA	biological process
GO:0033691	sialic acid binding	IBA	molecular function
GO:0043218	compact myelin	IDA	cellular component
GO:0043209	myelin sheath	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0033691	sialic acid binding	ISS	molecular function
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	ISS	biological process
GO:0030517	negative regulation of axon extension	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:1905576	ganglioside GT1b binding	ISS	molecular function
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050771	negative regulation of axonogenesis	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0033691	sialic acid binding	IEA	molecular function
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IEA	biological process
GO:0097453	mesaxon	IEA	cellular component
GO:0033691	sialic acid binding	IEA	molecular function
GO:0030517	negative regulation of axon extension	IEA	biological process
GO:1905576	ganglioside GT1b binding	IEA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043220	Schmidt-Lanterman incisure	IEA	cellular component
GO:0035749	myelin sheath adaxonal region	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0031103	axon regeneration	IEA	biological process
GO:0022010	central nervous system myelination	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:1905576	ganglioside GT1b binding	IEA	molecular function
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0048711	positive regulation of astrocyte differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0043220	Schmidt-Lanterman incisure	IEA	cellular component
GO:0035749	myelin sheath adaxonal region	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Multiple sclerosis	PMID:2419505
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq