• Gene id: 2823

Gene Summary

• Gene Symbol: GPM6A   Gene   UCSC   Ensembl
• Aliases: GPM6, M6A
• Gene name: glycoprotein M6A
• Alternate names: neuronal membrane glycoprotein M6-a,
• Gene location: 4q34.2 (38930762: 38915265)     Exons: 17     NC_000019.10
• OMIM: 601275

Protein Summary

• Protein general information: P51674  
  • Name: Neuronal membrane glycoprotein M6 a (M6a)
  • Length: 278  
  • Mass: 31210
• Sequence:

  MEENMEEGQTQKGCFECCIKCLGGIPYASLIATILLYAGVALFCGCGHEALSGTVNILQTYFEMARTAGDTLDVF
  TMIDIFKYVIYGIAAAFFVYGILLMVEGFFTTGAIKDLYGDFKITTCGRCVSAWFIMLTYLFMLAWLGVTAFTSL
  PVYMYFNLWTICRNTTLVEGANLCLDLRQFGIVTIGEEKKICTVSENFLRMCESTELNMTFHLFIVALAGAGAAV
  IAMVHYLMVLSANWAYVKDACRMQKYEDIKSKEEQELHDIHSTRSKERLNAYT

• Structural information:
  • Interpro: IPR001614  IPR018237  
  • Prosite: PS00575 PS01004
  • STRING: ENSP00000280187
• Other Databases: GeneCards:  GPM6A  Malacards:  GPM6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030175	filopodium	IBA	cellular component
GO:0031175	neuron projection development	IBA	biological process
GO:0044295	axonal growth cone	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0048863	stem cell differentiation	IDA	biological process
GO:0001764	neuron migration	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0044295	axonal growth cone	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0003407	neural retina development	ISS	biological process
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0007416	synapse assembly	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044295	axonal growth cone	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0003407	neural retina development	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0051491	positive regulation of filopodium assembly	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0099059	integral component of presynaptic active zone membrane	IEA	cellular component
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007416	synapse assembly	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq