• Gene id: 2824

Gene Summary

• Gene Symbol: GPM6B   Gene   UCSC   Ensembl
• Aliases: M6B
• Gene name: glycoprotein M6B
• Alternate names: neuronal membrane glycoprotein M6-b, protolipid M6B,
• Gene location: Xp22.2 (13938823: 13770921)     Exons: 9     NC_000023.11
• Gene summary(Entrez): This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking
• OMIM: 300051

Protein Summary

• Protein general information: Q13491  
  • Name: Neuronal membrane glycoprotein M6 b (M6b)
  • Length: 265  
  • Mass: 28989
  • Tissue specificity: Neurons and glia; cerebellar Bergmann glia, in glia within white matter tracts of the cerebellum and cerebrum, and in embryonic dorsal root ganglia.
• Sequence:

  MKPAMETAAEENTEQSQERKGCFECCIKCLGGVPYASLVATILCFSGVALFCGCGHVALAGTVAILEQHFSTNAS
  DHALLSEVIQLMQYVIYGIASFFFLYGIILLAEGFYTTSAVKELHGEFKTTACGRCISGMFVFLTYVLGVAWLGV
  FGFSAVPVFMFYNIWSTCEVIKSPQTNGTTGVEQICVDIRQYGIIPWNAFPGKICGSALENICNTNEFYMSYHLF
  IVACAGAGATVIALLIYMMATTYNYAVLKFKSREDCCTKF

• Structural information:
  • Interpro: IPR001614  IPR018237  
  • Prosite: PS00575 PS01004
• Other Databases: GeneCards:  GPM6B  Malacards:  GPM6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0031175	neuron projection development	IBA	biological process
GO:0045121	membrane raft	IBA	cellular component
GO:0051612	negative regulation of serotonin uptake	IBA	biological process
GO:0051612	negative regulation of serotonin uptake	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0030501	positive regulation of bone mineralization	IMP	biological process
GO:2000009	negative regulation of protein localization to cell surface	ISS	biological process
GO:0085029	extracellular matrix assembly	IMP	biological process
GO:0051893	regulation of focal adhesion assembly	IMP	biological process
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0007399	nervous system development	NAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)