• Gene id: 6506

Gene Summary

• Gene Symbol: SLC1A2   Gene   UCSC   Ensembl
• Aliases: EAAT2, EIEE41, GLT-1, HBGT
• Gene name: solute carrier family 1 member 2
• Alternate names: excitatory amino acid transporter 2, excitotoxic amino acid transporter 2, glutamate/aspartate transporter II, sodium-dependent glutamate/aspartate transporter 2, solute carrier family 1 (glial high affinity glutamate transporter), member 2,
• Gene location: 11p13 (78437430: 78501455)     Exons: 24     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Gl
• OMIM: 600300

Protein Summary

• Protein general information: P43004  
  • Name: Excitatory amino acid transporter 2 (Glutamate/aspartate transporter II) (Sodium dependent glutamate/aspartate transporter 2) (Solute carrier family 1 member 2)
  • Length: 574  
  • Mass: 62104
• Sequence:

  MASTEGANNMPKQVEVRMHDSHLGSEEPKHRHLGLRLCDKLGKNLLLTLTVFGVILGAVCGGLLRLASPIHPDVV
  MLIAFPGDILMRMLKMLILPLIISSLITGLSGLDAKASGRLGTRAMVYYMSTTIIAAVLGVILVLAIHPGNPKLK
  KQLGPGKKNDEVSSLDAFLDLIRNLFPENLVQACFQQIQTVTKKVLVAPPPDEEANATSAVVSLLNETVTEVPEE
  TKMVIKKGLEFKDGMNVLGLIGFFIAFGIAMGKMGDQAKLMVDFFNILNEIVMKLVIMIMWYSPLGIACLICGKI
  IAIKDLEVVARQLGMYMVTVIIGLIIHGGIFLPLIYFVVTRKNPFSFFAGIFQAWITALGTASSAGTLPVTFRCL
  EENLGIDKRVTRFVLPVGATINMDGTALYEAVAAIFIAQMNGVVLDGGQIVTVSLTATLASVGAASIPSAGLVTM
  LLILTAVGLPTEDISLLVAVDWLLDRMRTSVNVVGDSFGAGIVYHLSKSELDTIDSQHRVHEDIEMTKTQSIYDD
  MKNHRESNSNQCVYAAHNSVIVDECKVTLAANGKSADCSVEEEPWKREK

• Structural information:
  • Interpro: IPR001991  IPR018107  IPR036458  
  • Prosite: PS00713 PS00714
  • STRING: ENSP00000278379
• Other Databases: GeneCards:  SLC1A2  Malacards:  SLC1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098796	membrane protein complex	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0098796	membrane protein complex	ISS	cellular component
GO:0098712	L-glutamate import across plasma membrane	IGI	biological process
GO:0044297	cell body	ISS	cellular component
GO:0044297	cell body	ISS	cellular component
GO:0045121	membrane raft	ISS	cellular component
GO:0150104	transport across blood-brain barrier	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0070633	transepithelial transport	ISS	biological process
GO:0097449	astrocyte projection	ISS	cellular component
GO:0097449	astrocyte projection	ISS	cellular component
GO:0070778	L-aspartate transmembrane transport	ISS	biological process
GO:0098712	L-glutamate import across plasma membrane	IDA	biological process
GO:0015501	glutamate:sodium symporter activity	IDA	molecular function
GO:0070207	protein homotrimerization	IDA	biological process
GO:0070207	protein homotrimerization	IDA	biological process
GO:0005314	high-affinity glutamate transmembrane transporter activity	IDA	molecular function
GO:0098712	L-glutamate import across plasma membrane	IDA	biological process
GO:0098712	L-glutamate import across plasma membrane	IDA	biological process
GO:0015813	L-glutamate transmembrane transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005313	L-glutamate transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0015813	L-glutamate transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030534	adult behavior	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0046326	positive regulation of glucose import	IEA	biological process
GO:0097449	astrocyte projection	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0098712	L-glutamate import across plasma membrane	IEA	biological process
GO:0098810	neurotransmitter reuptake	IEA	biological process
GO:0005314	high-affinity glutamate transmembrane transporter activity	IEA	molecular function
GO:0007632	visual behavior	IEA	biological process
GO:0008509	anion transmembrane transporter activity	IEA	molecular function
GO:0009611	response to wounding	IEA	biological process
GO:0015501	glutamate:sodium symporter activity	IEA	molecular function
GO:0021537	telencephalon development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030673	axolemma	IEA	cellular component
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0070779	D-aspartate import across plasma membrane	IDA	biological process
GO:0099056	integral component of presynaptic membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04724	Glutamatergic synapse
hsa04721	Synaptic vesicle cycle
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Huntington's disease	PMID:9100675
Amyotrophic lateral sclerosis	PMID:9539131
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray