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SLC38A2 Gene

protein-coding   GIFtS: 62
GCID: GC12M046751

Solute Carrier Family 38, Member 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 38, Member 21 2     SAT22 3
ATA22 3 5     SNAT22 3
Amino Acid Transporter A22 3     KIAA13823 5
Protein 40-9-12 3     PRO10682
System A Amino Acid Transporter 22 3     Amino Acid Transporter 22
System A Transporter 12 3     Sodium-Coupled Neutral Amino Acid Transporter 22
System N Amino Acid Transporter 22 3     Solute Carrier Family 38 Member 23

External Ids:    HGNC: 134481   Entrez Gene: 544072   Ensembl: ENSG000001342947   OMIM: 6051805   UniProtKB: Q96QD83   

Export aliases for SLC38A2 gene to outside databases

Previous GC identifers: GC12M046829 GC12M046649 GC12M046468 GC12M045038 GC12M043783


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC38A2 Gene:
SLC38A2 (solute carrier family 38, member 2) is a protein-coding gene. Diseases associated with SLC38A2 include adult syndrome, and temporal lobe epilepsy. GO annotations related to this gene include amino acid transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC38A4.

UniProtKB/Swiss-Prot: S38A2_HUMAN, Q96QD8
Function: Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and
electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the
transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through
the placenta

Gene Wiki entry for SLC38A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC38A2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   HNF-3beta   MEF-2A   Nkx6-1   E2F   E2F-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC38A2 promoter sequence
   Search Chromatin IP Primers for SLC38A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC38A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q

SLC38A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC38A2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M046751:  view genomic region     (about GC identifiers)

Start:
46,751,971 bp from pter      End:
46,766,650 bp from pter
Size:
14,680 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S38A2_HUMAN, Q96QD8 (See protein sequence)
Recommended Name: Sodium-coupled neutral amino acid transporter 2  
Size: 506 amino acids; 56026 Da
Miscellaneous: Depletion of SCL38A2 by siRNA prevents the recovery of cells from hypertonic stress
Sequence caution: Sequence=BAD18765.1; Type=Erroneous initiation;
Secondary accessions: Q6IA88 Q6ZMG2 Q9HAV3 Q9NVA8 Q9P2G5
Alternative splicing: 2 isoforms:  Q96QD8-1   Q96QD8-2   

Explore the universe of human proteins at neXtProt for SLC38A2: NX_Q96QD8

Explore proteomics data for SLC38A2 at MOPED

Post-translational modifications: 

  • Polyubiquitination by NEDD4L regulates the degradation and the activity of SLC38A2 (By similarity)1
  • Ubiquitination2 at Lys33, Lys38
  • Glycosylation2 at Asn258, Asn274
  • Modification sites at PhosphoSitePlus

  • See SLC38A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061849.2  
    ENSEMBL proteins: 
     ENSP00000256689   ENSP00000449695   ENSP00000450406  
    Reactome Protein details: Q96QD8

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: SNAT2
    System A-like transporters

    1 InterPro protein domain:
     IPR013057 AA_transpt_TM

    Graphical View of Domain Structure for InterPro Entry Q96QD8

    ProtoNet protein and cluster: Q96QD8

    1 Blocks protein domain: IPB000847 Bacterial regulatory protein LysR

    UniProtKB/Swiss-Prot: S38A2_HUMAN, Q96QD8
    Similarity: Belongs to the amino acid/polyamine transporter 2 family


    SLC38A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S38A2_HUMAN, Q96QD8
    Function: Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and
    electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the
    transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through
    the placenta
    Enzyme regulation: Inhibited by N-methyl-D-glucamine and probably choline
    Biophysicochemical properties: Kinetic parameters: KM=0.39 mM for 2-methylamino-isobutyric acid (MeAIB) (at pH
    8.0);
    Induction: Up-regulated upon hypertonic conditions and amino acid deprivation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015171amino acid transmembrane transporter activity IEA--
    GO:0015293symporter activity IEA--
         
    SLC38A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC38A2:
     Decreased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC38A2
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    miRNA
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    miRTarBase miRNAs that target SLC38A2:
    hsa-mir-335-5p (MIRT017766), hsa-mir-193b-3p (MIRT041222), hsa-mir-16-5p (MIRT031686), hsa-let-7e-5p (MIRT051580), hsa-let-7b-5p (MIRT032375), hsa-mir-124-3p (MIRT022556), hsa-mir-101-3p (MIRT027261), hsa-mir-30a-5p (MIRT005160), hsa-mir-18a-3p (MIRT040757)

    Block miRNA regulation of human, mouse, rat SLC38A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC38A2 (see all 41):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-429 hsa-miR-330-5p hsa-miR-218-1* hsa-miR-624* hsa-miR-30d hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidSLC38A2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S38A2_HUMAN, Q96QD8: Cell membrane; Multi-pass membrane protein. Note=Insulin promotes recruitment to the plasma
    membrane from a pool localized in the trans-Golgi network or endosomes (By similarity). Enriched in the
    somatodendritic compartment of neurons, it is also detected at the axonal shaft but excluded from the nerve
    terminal
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome2
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    SLC38A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC38A2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Amino acid transport across the plasma membrane0.32
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Circadian entrainment
    GABAergic synapse0.53
    Glutamatergic synapse0.39
    4Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    Glutamate Neurotransmitter Release Cycle0.00
    5Protein digestion and absorption
    Protein digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC38A2
        Endochondral Ossification

    2 Reactome Pathways for SLC38A2
        Glutamate Neurotransmitter Release Cycle
    Amino acid transport across the plasma membrane


    3 Kegg Pathways  (Kegg details for SLC38A2):
        Glutamatergic synapse
    GABAergic synapse
    Protein digestion and absorption


    SLC38A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC38A2: 
              Drug Transporters in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC38A2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SLC38A2 (Q96QD82, 3 ENSP000002566894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STX11O755582, 3, ENSP000003565404MINT-63215 I2D: score=5 STRING: ENSP00000356540
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IEA--
    GO:0006865amino acid transport TAS--
    GO:0007268synaptic transmission TAS--

    SLC38A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC38A2 (S38A2)

    1 HMDB Compound for SLC38A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    2 IUPHAR Ligands for SLC38A2 (SNAT2)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]alanine
    NoneNone--
    [14C]alanine
    NoneNone--

    4 Novoseek inferred chemical compound relationships for SLC38A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    meaib 91.4 1 12190959 (1)
    glutamate 17.9 1 16426705 (1)
    glutamine 15 1 10336123 (1)
    glucose 6.51 4 9648821 (1), 15539610 (1), 8420925 (1), 12190959 (1)



    SLC38A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC38A2 gene: 
    NM_018976.4  

    Unigene Cluster for SLC38A2:

    Solute carrier family 38, member 2
    Hs.221847  [show with all ESTs]
    Unigene Representative Sequence: NM_018976
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256689(uc010sli.2 uc001rpg.3 uc001rph.3) ENST00000549258
    ENST00000551374 ENST00000552703 ENST00000546520 ENST00000548785 ENST00000548111
    ENST00000548236 ENST00000552414 ENST00000548870 ENST00000547252 ENST00000551405
    ENST00000553252
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    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-429 hsa-miR-330-5p hsa-miR-218-1* hsa-miR-624* hsa-miR-30d hsa-miR-30a
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      QuantiFast Probe-based Assays in human, mouse, rat SLC38A2

    Additional mRNA sequence: 

    AB037803.2 AF259799.1 AF298897.1 AJ344099.1 AK001700.1 AK172784.1 AK291644.1 AK293858.1 
    BC016909.1 BC029379.1 BC040342.1 CR457267.1 

    Selected DOTS entries (see all 34):

    DT.95211763  DT.87005965  DT.100885179  DT.100885188  DT.100885180  DT.95102131  DT.97827585  DT.121184060 
    DT.121184102  DT.121184118  DT.40192105  DT.100885184  DT.121184061  DT.121184114  DT.121184128  DT.92465179 
    DT.100885187  DT.91748840  DT.95102180  DT.95102213  DT.100044367  DT.100885185  DT.100885189  DT.121184070 

    Selected AceView cDNA sequences (see all 675):

    AI200617 BC016909 BQ187774 BQ005199 AL699497 CB127667 BQ720051 BU156389 
    BG610826 CA440984 AA491455 AI688932 T41217 AU139552 AW084735 AI382836 
    BM833836 BM756567 AU133095 AI283284 BM681992 BM995306 CR606904 BQ881137 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A2 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
    SP1:        -     -                                                     -     -                                                         
    SP2:        -     -                 -                                   -     -                                                         
    SP3:                                                                                                                                    
    SP4:                                                                                                        -     -                     
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for SLC38A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC38A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTAATCCTG
    SLC38A2 Expression
    About this image


    SLC38A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
    SLC38A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC38A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.221847

    UniProtKB/Swiss-Prot: S38A2_HUMAN, Q96QD8
    Tissue specificity: Ubiquitously expressed. Widely expressed in the central nervous system with higher
    concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together with astrocytes and
    other non-neuronal cells in the cerebral cortex (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC38A2: 
              Drug Transporters in human mouse rat
              Osmotic Stress in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC38A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SLC38A2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc38a21 , 5 solute carrier family 38, member 21, 5 82.84(n)1
    89.26(a)1
      15 (52.60 cM)5
    677601  NM_175121.31  NP_780330.21 
     966873945 
    chicken
    (Gallus gallus)
    Aves SLC38A21 solute carrier family 38, member 2 78.13(n)
    80.28(a)
      417807  NM_001030741.1  NP_001025912.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC38A26
    solute carrier family 38, member 2
    81(a)
    1 ↔ 1
    5(53428492-53451153)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA790305.12   -- 79.45(n)    CA790305.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc38a21 solute carrier family 38, member 2 67(n)
    71.81(a)
      566537  NM_001045104.1  NP_001038569.1 


    ENSEMBL Gene Tree for SLC38A2 (if available)
    TreeFam Gene Tree for SLC38A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC38A2 gene
    SLC38A42  SLC38A62  SLC38A12  SLC38A52  SLC38A112  SLC38A102  
    5 SIMAP similar genes for SLC38A2 using alignment to 3 protein entries:     S38A2_HUMAN (see all proteins):
    SLC38A3    SLC38A1    SLC38A6    SLC38A4    SLC38A5

    SLC38A2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC38A2
    PGOHUM00000259851


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC38A2 (see all 381)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1432191691,2
    C--46751557(+) TTGTGC/GATCAT 1 -- int10--------
    rs1915623141,2
    --46751563(+) ATCATC/TATCAC 1 -- int10--------
    rs780717471,2
    F--46751604(+) TCCTGG/AGCTAC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1390454551,2
    --46751648(+) GGCACA/GTTTCA 1 -- int10--------
    rs732825711,2
    C,F--46751743(+) CTCTTC/ATGATG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1161356311,2
    F--46751860(+) ACATAT/CGGACA 1 -- int12Minor allele frequency- C:0.01WA EA 238
    rs1432675611,2
    --46751924(+) TATCCC/GATTAC 1 -- int10--------
    rs1871480591,2
    C--46751935(+) CTGAAA/CAAAAC 1 -- int10--------
    rs1128246461,2
    C--46751970(+) TGCTAC/G/TTCAGG 1 -- spd11CSA 1
    rs1167098751,2
    F--46751984(+) AAGCAT/CGTATT 1 -- ut311Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for SLC38A2 (46751971 - 46766650 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC38A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832398CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC38A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC38A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605180    OMIM disorders: --

    7 diseases for SLC38A2:    
    About MalaCards
    adult syndrome    temporal lobe epilepsy    hypoxia    cerebritis
    hepatocellular carcinoma    neuronitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for SLC38A2:
    ADULT syndrome

    SLC38A2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SLC38A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    intrauterine growth retardation 60.4 1 9380446 (1)


    Export disorders for SLC38A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC38A2 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with SLC38A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SNAT2 silencing prevents the osmotic induction of transport system A and hinders cell recovery from hypertonic stress. (PubMed id 15922329)1, 2, 9 Bevilacqua E.... Franchi-Gazzola R. (FEBS Lett. 2005)
    2. Transcriptional control of the human sodium-coupled neutral amino acid transporter system A gene by amino acid availability is mediated by an intronic element. (PubMed id 14623874)1, 2, 9 Palii S.S.... Kilberg M.S. (J. Biol. Chem. 2004)
    3. The sodium-coupled neutral amino acid transporter SNAT2 mediates an anion leak conductance that is differentially inhibited by transported substrates. (PubMed id 17237199)1, 3 Zhang Z. and Grewer C. (Biophys. J. 2007)
    4. Amino acid starvation induces the SNAT2 neutral amino acid transporter by a mechanism that involves eukaryotic initiation factor 2alpha phosphorylation and cap-independent translation. (PubMed id 16621798)1, 2 Gaccioli F.... Hatzoglou M. (J. Biol. Chem. 2006)
    5. Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex. (PubMed id 16616430)1, 2 Melone M.... Conti F. (Neuroscience 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Cloning of an amino acid transporter with functional characteristics and tissue expression pattern identical to that of system A. (PubMed id 10747860)1, 3 Sugawara M....Ganapathy V. (J. Biol. Chem. 2000)
    8. Primary structure, functional characteristics and tissue expression pattern of human ATA2, a subtype of amino acid transport system A. (PubMed id 10930503)1, 2 Hatanaka T.... Ganapathy V. (Biochim. Biophys. Acta 2000)
    9. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. IL-6 stimulates system A amino acid transporter activity in trophoblast cells through STAT3 and increased expression of SNAT2. (PubMed id 19741197)1, 9 Jones H.N....Powell T.L. (Am. J. Physiol., Cell Physiol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54407 HGNC: 13448 AceView: SLC38A2 Ensembl:ENSG00000134294 euGenes: HUgn54407
    ECgene: SLC38A2 Kegg: 54407 H-InvDB: SLC38A2

    (According to HUGE)
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    HUGE: KIAA1382

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC38A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC38A2 gene:
    Search GeneIP for patents involving SLC38A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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