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. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glu... See more...

Aliases for SLC1A2 Gene

Aliases for SLC1A2 Gene

  • Solute Carrier Family 1 Member 2 2 3 4 5
  • Solute Carrier Family 1 (Glial High Affinity Glutamate Transporter), Member 2 2 3
  • Sodium-Dependent Glutamate/Aspartate Transporter 2 3 4
  • Excitatory Amino Acid Transporter 2 3 4
  • Glutamate/Aspartate Transporter II 3 4
  • EAAT2 3 4
  • Excitotoxic Amino Acid Transporter 2 3
  • EIEE41 3
  • GLT-1 3
  • HBGT 3
  • GLT1 4

External Ids for SLC1A2 Gene

Previous GeneCards Identifiers for SLC1A2 Gene

  • GC11M036834
  • GC11M035960
  • GC11M035315
  • GC11M035246
  • GC11M035237
  • GC11M035229
  • GC11M034972

Summaries for SLC1A2 Gene

Entrez Gene Summary for SLC1A2 Gene

  • 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. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

GeneCards Summary for SLC1A2 Gene

SLC1A2 (Solute Carrier Family 1 Member 2) is a Protein Coding gene. Diseases associated with SLC1A2 include Epileptic Encephalopathy, Early Infantile, 41 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include L-glutamate transmembrane transporter activity and glutamate:sodium symporter activity. An important paralog of this gene is SLC1A1.

UniProtKB/Swiss-Prot Summary for SLC1A2 Gene

  • Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:14506254, PubMed:15265858, PubMed:26690923). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity).

Tocris Summary for SLC1A2 Gene

  • Glutamate transporters, also known as excitatory amino acid transporters (EAATs), are sodium- and potassium-dependent members of the solute carrier family 6 (SLC1), widely distributed throughout the brain. There are five EAAT subtypes, each with a specific distribution.

Gene Wiki entry for SLC1A2 Gene

Additional gene information for SLC1A2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC1A2 Gene

Genomics for SLC1A2 Gene

GeneHancer (GH) Regulatory Elements for SLC1A2 Gene

Promoters and enhancers for SLC1A2 Gene
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
GH11J035419 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 510.4 +0.8 762 2.6 EP300 ZIC2 ZBTB10 ZNF623 ZBTB26 RFX1 SP2 ZBTB17 MXI1 POLR2A SLC1A2 ENSG00000255542
GH11J035421 Enhancer 0.2 FANTOM5 519 -2.0 -1969 0.4 SLC1A2 lnc-SLC1A2-3
GH11J035402 Enhancer 1 Ensembl ENCODE dbSUPER 31.8 +16.6 16620 3.3 CTCF USF1 TCF7 RFX1 RAD21 MYC SMC3 RBM25 FOXA2 ZNF654 SLC1A2 ENSG00000255542 lnc-CD44-6 ENSG00000215380
GH11J035389 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 21.5 +28.8 28841 3.5 FOXK2 ZBTB40 ZNF217 CTCF TCF12 FOS KDM6A CLOCK TCF7 FOXA1 SLC1A2 APIP ENSG00000255542 PDHX MIR1343 lnc-CD44-6 ENSG00000215380
GH11J035387 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 18 +32.3 32262 1.6 JUND FOS RFX1 CTCF RAD21 RFX5 BMI1 SMC3 RFX3 ZNF770 SLC1A2 ENSG00000255542 APIP PDHX MIR1343 CD44 lnc-CD44-6 ENSG00000215380
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC1A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC1A2

Top Transcription factor binding sites by QIAGEN in the SLC1A2 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for SLC1A2 Gene

Genomic Locations for SLC1A2 Gene
chr11:35,251,205-35,420,063
(GRCh38/hg38)
Size:
168,859 bases
Orientation:
Minus strand
chr11:35,272,752-35,441,610
(GRCh37/hg19)
Size:
168,859 bases
Orientation:
Minus strand

Genomic View for SLC1A2 Gene

Genes around SLC1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A2 Gene

Proteins for SLC1A2 Gene

  • Protein details for SLC1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43004-EAA2_HUMAN
    Recommended name:
    Excitatory amino acid transporter 2
    Protein Accession:
    P43004
    Secondary Accessions:
    • B4DQE9
    • Q14417
    • Q541G6
    • U3KQQ4

    Protein attributes for SLC1A2 Gene

    Size:
    574 amino acids
    Molecular mass:
    62104 Da
    Quaternary structure:
    • Homotrimer (PubMed:15265858, PubMed:15483603, PubMed:26483543). Isoform 3 can oligomerize with isoform 1 (PubMed:20688910). Interacts with AJUBA (By similarity).

    Alternative splice isoforms for SLC1A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC1A2 Gene

Post-translational modifications for SLC1A2 Gene

  • Glycosylated.
  • Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate uptake activity.
  • Glycosylation at Asn206 and Asn216
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC1A2 Gene

Domains & Families for SLC1A2 Gene

Gene Families for SLC1A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC1A2 Gene

Blocks:
  • Sodium:dicarboxylate symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC1A2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16454 fis, clone BRAWH3005292, highly similar to Excitatory amino acid transporter 2 (A2A2U1_HUMAN)
  • Solute carrier family 1 member 2 (EAA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P43004

UniProtKB/Swiss-Prot:

EAA2_HUMAN :
  • Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A2 subfamily.
Domain:
  • Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.
Family:
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A2 subfamily.
genes like me logo Genes that share domains with SLC1A2: view

Function for SLC1A2 Gene

Molecular function for SLC1A2 Gene

UniProtKB/Swiss-Prot Function:
Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7521911, PubMed:14506254, PubMed:15265858, PubMed:26690923). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=391 uM for L-glutamate {ECO:0000269 PubMed:26690923};
GENATLAS Biochemistry:
solute carrier family 1,member A2,glial high affinity glutamate transporter,expressed in brain and pancreas,located in astrocytes,with five transcripts alternatively spliced from 5'utr and a variant acting as a putative modifier for the spastic paraplegia phenotype

Phenotypes From GWAS Catalog for SLC1A2 Gene

Gene Ontology (GO) - Molecular Function for SLC1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA 7521911
GO:0005314 high-affinity glutamate transmembrane transporter activity IDA 26690923
GO:0005515 protein binding IPI 19527721
GO:0008509 anion transmembrane transporter activity IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC1A2: view
genes like me logo Genes that share phenotypes with SLC1A2: view

Human Phenotype Ontology for SLC1A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC1A2 Gene

MGI Knock Outs for SLC1A2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC1A2 Gene

Localization for SLC1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC1A2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 15265858
GO:0009986 cell surface IDA 21399631
GO:0016020 membrane IEA,TAS 7521911
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC1A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC1A2 Gene

Pathways & Interactions for SLC1A2 Gene

genes like me logo Genes that share pathways with SLC1A2: view

Pathways by source for SLC1A2 Gene

1 Qiagen pathway for SLC1A2 Gene
  • Pathogenesis of ALS
1 Cell Signaling Technology pathway for SLC1A2 Gene

Gene Ontology (GO) - Biological Process for SLC1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006865 amino acid transport IEA --
GO:0007268 chemical synaptic transmission TAS 7521911
GO:0007399 nervous system development IEA --
GO:0007632 visual behavior IEA --
genes like me logo Genes that share ontologies with SLC1A2: view

No data available for SIGNOR curated interactions for SLC1A2 Gene

Drugs & Compounds for SLC1A2 Gene

(49) Drugs for SLC1A2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
DL-TBOA Pharma Inhibition, Inhibitor inhibitor of excitatory amino acid transporters 0
dihydrokainate Pharma Inhibition, Inhibitor 0
7-Chlorokynurenic acid Pharma Potent competitive inhibitor of L-glutamate uptake 0
7-Chlorokynurenic acid sodium salt Pharma Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) 0

(21) Additional Compounds for SLC1A2 Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
[<sup>3</sup>H]ETB-TBOA
Chicago Sky Blue 6B
2610-05-1

(4) Tocris Compounds for SLC1A2 Gene

Compound Action Cas Number
7-Chlorokynurenic acid Potent competitive inhibitor of L-glutamate uptake 18000-24-3
7-Chlorokynurenic acid sodium salt Potent competitive inhibitor of L-glutamate uptake. Sodium salt of 7-Chlorokynurenic acid (Cat. No. 0237) 1263094-00-3
Chicago Sky Blue 6B Potent inhibitor of L-glutamate uptake into synaptic vesicles; also inhibits MIF 2610-05-1
Evans Blue tetrasodium salt Potent inhibitor of L-glutamate uptake into synaptic vesicles 314-13-6

(17) ApexBio Compounds for SLC1A2 Gene

Compound Action Cas Number
(±)-HIP-A 227619-64-9
(±)-HIP-B 227619-65-0
(±)-threo-3-Methylglutamic acid 63088-04-0
7-Chlorokynurenic acid 18000-24-3
7-Chlorokynurenic acid sodium salt 1263094-00-3
cis-ACBD 73550-55-7
Congo Red 573-58-0
Dihydrokainic acid 52497-36-6
DL-TBOA inhibitor of excitatory amino acid transporters 205309-81-5
L-(-)-threo-3-Hydroxyaspartic acid 7298-99-9
L-CCG-lll 117857-95-1
LDN 212320 894002-50-7
L-trans-2,4-PDC 64769-66-0
MPDC 159262-32-5
TFB-TBOA 480439-73-4
UCPH 101 1118460-77-7
WAY 213613 868359-05-1
genes like me logo Genes that share compounds with SLC1A2: view

Drug Products

Transcripts for SLC1A2 Gene

mRNA/cDNA for SLC1A2 Gene

3 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
50 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - - -
SP3: - -
SP4: - - - -

Relevant External Links for SLC1A2 Gene

GeneLoc Exon Structure for
SLC1A2

Expression for SLC1A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC1A2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x8.3), Brain - Nucleus accumbens (basal ganglia) (x7.7), Brain - Amygdala (x7.5), Brain - Putamen (basal ganglia) (x7.2), Brain - Frontal Cortex (BA9) (x4.9), Brain - Cortex (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for SLC1A2 Gene

This gene is overexpressed in Frontal cortex (33.3) and Brain (31.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC1A2 Gene



Protein tissue co-expression partners for SLC1A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC1A2

SOURCE GeneReport for Unigene cluster for SLC1A2 Gene:

Hs.502338

Evidence on tissue expression from TISSUES for SLC1A2 Gene

  • Nervous system(5)
  • Pancreas(4.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SLC1A2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A2 Gene

Orthologs for SLC1A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC1A2 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC1A2 31 30
  • 91.37 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC1A2 31
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC1A2 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC1A2 31 30
  • 90.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc1a2 30
  • 88.77 (n)
mouse
(Mus musculus)
Mammalia Slc1a2 17 31 30
  • 88.64 (n)
chicken
(Gallus gallus)
Aves SLC1A2 31 30
  • 78.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC1A2 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc1a2 30
  • 75.91 (n)
zebrafish
(Danio rerio)
Actinopterygii slc1a2a 31
  • 78 (a)
OneToMany
slc1a2b 31 30
  • 72.1 (n)
OneToMany
slc1a9 31
  • 49 (a)
OneToMany
wufj34b12 30
fruit fly
(Drosophila melanogaster)
Insecta Eaat1 32
  • 43 (a)
Eaat2 31 32
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea glt-2 32
  • 62 (a)
glt-1 31 30
  • 58.47 (n)
OneToMany
Y53C12A.2 32
  • 51 (a)
glt-5 31
  • 50 (a)
OneToMany
K08F4.4 32
  • 50 (a)
glt-3 31
  • 46 (a)
OneToMany
T22E5.2 32
  • 44 (a)
glt-6 31
  • 43 (a)
OneToMany
R05G6.6 32
  • 43 (a)
glt-7 31
  • 36 (a)
OneToMany
W03G1.1 32
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.317 31
  • 43 (a)
OneToOne
Cin.5947 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5947 30
Species where no ortholog for SLC1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC1A2 Gene

ENSEMBL:
Gene Tree for SLC1A2 (if available)
TreeFam:
Gene Tree for SLC1A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC1A2: view image

Paralogs for SLC1A2 Gene

Paralogs for SLC1A2 Gene

(6) SIMAP similar genes for SLC1A2 Gene using alignment to 6 proteins:

  • EAA2_HUMAN
  • A2A2U1_HUMAN
  • C9J9N5_HUMAN
  • H0YEB1_HUMAN
  • H0YEK4_HUMAN
  • U3KQQ4_HUMAN
genes like me logo Genes that share paralogs with SLC1A2: view

Variants for SLC1A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC1A2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs142741081 Uncertain Significance: not provided 35,306,136(-) G/T MISSENSE_VARIANT
rs781379291 Likely Pathogenic: Epileptic encephalopathy, early infantile, 41 35,292,512(-) G/C MISSENSE_VARIANT
rs886037942 Pathogenic: Epileptic encephalopathy, early infantile, 41. Pathogenic: Epileptic encephalopathy, early infantile, 41. Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105] 35,315,089(-) C/GC/Tp.Gly82Arg MISSENSE_VARIANT
rs886037943 Pathogenic: Epileptic encephalopathy, early infantile, 41. Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105] 35,315,079(-) A/Gp.Leu85Pro MISSENSE_VARIANT
VAR_080229 Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105] p.Pro289Arg

Additional dbSNP identifiers (rs#s) for SLC1A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC1A2 Gene

Variant ID Type Subtype PubMed ID
esv2602066 CNV insertion 19546169
esv2759819 CNV gain 17122850
esv3304729 CNV mobile element insertion 20981092
esv3346457 CNV insertion 20981092
esv3625930 CNV loss 21293372
esv3625932 CNV loss 21293372
nsv1042014 CNV loss 25217958
nsv7733 CNV insertion 18451855
nsv832120 CNV gain 17160897
nsv975902 CNV duplication 23825009

Variation tolerance for SLC1A2 Gene

Residual Variation Intolerance Score: 9.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC1A2 Gene

Human Gene Mutation Database (HGMD)
SLC1A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A2 Gene

Disorders for SLC1A2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for SLC1A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EAA2_HUMAN
  • Epileptic encephalopathy, early infantile, 41 (EIEE41) [MIM:617105]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE41 inheritance is autosomal dominant. {ECO:0000269 PubMed:27476654, ECO:0000269 PubMed:28777935}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC1A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC1A2: view

No data available for Genatlas for SLC1A2 Gene

Publications for SLC1A2 Gene

  1. No genetic association between the SLC1A2 gene and Japanese patients with schizophrenia. (PMID: 19660525) Nagai Y … Arai H (Neuroscience letters 2009) 3 23 41 54
  2. Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia. (PMID: 15296513) Deng X … Fukumaki Y (BMC psychiatry 2004) 3 23 41 54
  3. DL-threo-beta-benzyloxyaspartate, a potent blocker of excitatory amino acid transporters. (PMID: 9463476) Shimamoto K … Nakajima T (Molecular pharmacology 1998) 3 4 23 54
  4. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. (PMID: 7521911) Arriza JL … Amara SG (The Journal of neuroscience : the official journal of the Society for Neuroscience 1994) 3 4 23 54
  5. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. (PMID: 28777935) Guella I … Farrer MJ (American journal of human genetics 2017) 3 4 54

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