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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC3A2 Gene

protein-coding   GIFtS: 64
GCID: GC11P062623

Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain),...

(Previous names: solute carrier family 3 (activators of dibasic and neutral...)
(Previous symbol: MDU1)
  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)
About This Section

Aliases
Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member
21 2
     Antigen Identified By Monoclonal Antibodies 4F21
MDU11 2 3 5     Heavy Chain1
Lymphocyte Activation Antigen 4F2 Large Subunit1 2 3     4F22
Solute Carrier Family 3 (Activators Of Dibasic And Neutral Amino Acid
Transport), Member 21 2
     4F2HC2
4F2 Cell-Surface Antigen Heavy Chain1 2     4T2HC2
CD98 Heavy Chain1 2     CD982
Monoclonal Antibody 44D71 2     CD98HC2
NACAE2 5     Antigen Defined By Monoclonal Antibody 4F2, Heavy Chain2
4F2 Heavy Chain1     Antigen Identified By Monoclonal Antibodies 4F2, TRA1.10, TROP4, And T432
TRA1.101     Solute Carrier Family 3 Member 22
TROP41     4F2hc3
And T431     4F2 Heavy Chain Antigen3
Antigen Defined By Monoclonal Antibody 4F21     CD98 Antigen3

External Ids:    HGNC: 110261   Entrez Gene: 65202   Ensembl: ENSG000001680037   OMIM: 1580705   UniProtKB: P081953   

Export aliases for SLC3A2 gene to outside databases

Previous GC identifers: GC11P065136 GC11P064199 GC11P062874 GC11P062398 GC11P062380 GC11P058952


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC3A2 Gene:
This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein
exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible
light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports
L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been
characterized. (provided by RefSeq, Nov 2010)

GeneCards Summary for SLC3A2 Gene: 
SLC3A2 (solute carrier family 3 (amino acid transporter heavy chain), member 2) is a protein-coding gene. Diseases associated with SLC3A2 include halo nevi, and heavy chain disease, and among its related super-pathways are Amino acid transport across the plasma membrane and Transmembrane transport of small molecules. GO annotations related to this gene include neutral amino acid transmembrane transporter activity and catalytic activity. An important paralog of this gene is SLC3A1.

UniProtKB/Swiss-Prot: 4F2_HUMAN, P08195
Function: Required for the function of light chain amino-acid transporters. Involved in sodium-independent,
high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and
tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with
SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid
transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide
synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and
neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the
blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell
membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the
L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When
associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via
the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1,
regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular
signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating
blood to the retina across the inner blood-retinal barrier

Gene Wiki entry for SLC3A2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC3A2 gene promoter:
         c-Fos   AP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC3A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC3A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC3A2


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12-q22

SLC3A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC3A2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P062623:  view genomic region     (about GC identifiers)

Start:
62,623,484 bp from pter      End:
62,656,355 bp from pter
Size:
32,872 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 4F2_HUMAN, P08195 (See protein sequence)
Recommended Name: 4F2 cell-surface antigen heavy chain  
Size: 630 amino acids; 67994 Da
Subunit: Disulfide-linked heterodimer of a glycosylated heavy chain and a non-glycosylated light chain (SLC7A5,
SLC7A6, SLCA7A7, SLC7A8, SLC7A10 or SLCA7A11). Colocalizes with cadherins (By similarity). Interacts with
FAM57A/CT120 and ICAM1. Constitutively and specifically associates with beta-1 integrins (alpha-2/beta-1,
alpha-3/beta-1, alpha-5/beta-1 and alpha-6/beta-1), but minimally with alpha-4/beta-1
Subcellular location: Apical cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by
mass spectrometry in melanosome fractions from stage I to stage IV. Localized to the plasma membrane when
associated with SLC7A5 or SLC7A8. Localized to the placental apical membrane. Located selectively at cell-cell
adhesion sites (By similarity). Colocalized with SLC7A8/LAT2 at the basolateral membrane of kidney proximal
tubules and small intestine epithelia. Expressed in both luminal and abluminal membranes of brain capillary
endothelial cells (By similarity)
Mass spectrometry: Mass=57944.93; Method=MALDI; Range=1-529; Source=PubMed:11840567;
Miscellaneous: Arginine uptake is inhibited by increasing concentrations of leucine in the presence of Na(+)
2 PDB 3D structures from and Proteopedia for SLC3A2:
2DH2 (3D)        2DH3 (3D)    
Secondary accessions: Q13543
Alternative splicing: 4 isoforms:  P08195-1   P08195-2   P08195-3   P08195-4   

Explore the universe of human proteins at neXtProt for SLC3A2: NX_P08195

Explore proteomics data for SLC3A2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors
    heterotypic cell-cell interactions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08195

  • SLC3A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC3A2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001012680.1  NP_001012682.1  NP_001013269.1  NP_002385.3  

    ENSEMBL proteins: 
     ENSP00000367122   ENSP00000367123   ENSP00000367121   ENSP00000444236   ENSP00000440001  
     ENSP00000442135   ENSP00000340815   ENSP00000444250   ENSP00000438032   ENSP00000438353  
     ENSP00000444439   ENSP00000445858   ENSP00000440819   ENSP00000367124  
    Reactome Protein details: P08195
    Human Recombinant Protein Products for SLC3A2: 
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    Novus Biologicals SLC3A2 Proteins
    Novus Biologicals SLC3A2 Lysates
    Sino Biological Recombinant Protein for SLC3A2
    Sino Biological Cell Lysate for SLC3A2 
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    Cloud-Clone Corp. Proteins for SLC3A2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA12493773
    GO:0016021integral to membrane NAS3476959
    GO:0016324apical plasma membrane IEA--
    GO:0042470melanosome IEA--

    SLC3A2 for ontologies           About GeneDecksing



    SLC3A2 Antibody Products: 
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    Assay Products for SLC3A2: 
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    Cloud-Clone Corp. ELISAs for SLC3A2 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: 4F2hc 
    SLC3 family

    5 InterPro protein domains:
     IPR015902 Glyco_hydro_13
     IPR017853 Glycoside_hydrolase_SF
     IPR013780 Glyco_hydro_13_b
     IPR006047 Glyco_hydro_13_cat_dom
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P08195

    ProtoNet protein and cluster: P08195

    UniProtKB/Swiss-Prot: 4F2_HUMAN, P08195
    Similarity: Belongs to the SLC3A transporter family


    SLC3A2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 4F2_HUMAN, P08195
    Function: Required for the function of light chain amino-acid transporters. Involved in sodium-independent,
    high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and
    tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with
    SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid
    transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide
    synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and
    neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the
    blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell
    membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the
    L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When
    associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via
    the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1,
    regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular
    signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating
    blood to the retina across the inner blood-retinal barrier
    Biophysicochemical properties: Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl); KM=236 uM
    for leucine (in the presence of NaCl); KM=120 uM for arginine (in the presence of NaCl); KM=138 uM for arginine
    (in the absence of NaCl);
    Induction: Expression is induced in resting peripheral blood T-lymphocytes following PHA stimulation. Expression
    increases at the time of maximal DNA synthesis, in fibroblasts stimulated to divide. Expression and the uptake of
    leucine is stimulated in mononuclear, cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA
    and calcium ionophore

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0005432calcium:sodium antiporter activity TAS10673541
    GO:0005515protein binding IPI10506149
    GO:0015175neutral amino acid transmembrane transporter activity ISS--
    GO:0043169cation binding IEA--
         
    SLC3A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC3A2:
     Decreased viability after Chla 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc3a2):
     cellular  digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  tumorigenesis 

    SLC3A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc3a2tm1Yai for SLC3A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC3A2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC3A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC3A2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC3A2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC3A2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC3A2:
    hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidSLC3A2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SLC3A2

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): SLC3A2 (NM_001012662)
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                         Customized lentivirus expression plasmids for stable overexpression of SLC3A2 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC3A2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC3A2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Platelet activation, signaling and aggregation
    Hemostasis0.43
    4Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    5Sodium-coupled transporters and pumps
    Sodium-coupled transporters and pumps0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC3A2
        Sodium-coupled transporters and pumps


    1 Cell Signaling Technology (CST) Pathway for SLC3A2
        Glucose / Energy Metabolism

    1 BioSystems Pathway for SLC3A2
        Calcineurin-regulated NFAT-dependent transcription in lymphocytes


    5/8        Reactome Pathways for SLC3A2 (see all 8)
        Hemostasis
    Transmembrane transport of small molecules
    SLC-mediated transmembrane transport
    Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides


    1         Kegg Pathway  (Kegg details for SLC3A2):
        Protein digestion and absorption


    SLC3A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC3A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/100 Interacting proteins for SLC3A2 (P081952, 3 ENSP000003671244) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB1P055562, 3, ENSP000003640944MINT-8407185 I2D: score=3 STRING: ENSP00000364094
    BRF2Q9HAW03, ENSP000002206594I2D: score=2 STRING: ENSP00000220659
    ICAM1P053623, ENSP000002648324I2D: score=2 STRING: ENSP00000264832
    SLC7A5Q016503, ENSP000002616224I2D: score=2 STRING: ENSP00000261622
    SLC7A7Q9UM013, ENSP000002858504I2D: score=2 STRING: ENSP00000285850
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006811ion transport TAS--
    GO:0006816calcium ion transport NAS3036867
    GO:0006865amino acid transport TAS10673541
    GO:0007596blood coagulation TAS--

    SLC3A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC3A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC3A2 (4F2)

    7 HMDB Compounds for SLC3A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Dopa(-)-Dopa (see all 58)59-92-7--
    L-Leucine(2S)-2-Amino-4-methylpentanoate (see all 16)61-90-5--
    SodiumSodium (see all 2)7440-23-5--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--

    10/15 Novoseek inferred chemical compound relationships for SLC3A2 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystine 73.9 5 12498985 (1), 11417227 (1), 11377971 (1), 8663357 (1) (see all 5)
    leucine 49.4 6 1376926 (3), 9480885 (1), 19335336 (1), 19562367 (1)
    diethylmaleate 48.6 1 12498985 (1)
    arginine 28.6 7 1376926 (4), 19562367 (1), 14744923 (1)
    phenylalanine 20.5 1 10556789 (1)
    sodium 11.6 9 1376926 (4), 11417227 (1), 19562367 (1)
    agar 9.97 5 11175335 (1)
    oligonucleotide 4.4 5 16136276 (2), 7920863 (1), 12740424 (1)
    alanine 1.09 1 19065266 (1)
    glutamate 0.957 3 16912398 (1), 11417227 (1), 11406111 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC3A2 / 4F2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC3A2 gene (6 alternative transcripts): 
    NM_001012662.2  NM_001012664.2  NM_001013251.2  NM_002394.5  NM_001012661.1  NM_001012663.1  

    Unigene Cluster for SLC3A2:

    Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
    Hs.502769  [show with all ESTs]
    Unigene Representative Sequence: NM_001012662
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000377890 ENST00000377891 ENST00000377889 ENST00000535296 ENST00000538084
    ENST00000544377 ENST00000338663(uc001nwg.3) ENST00000541372 ENST00000539458
    ENST00000537508 ENST00000541649 ENST00000537839 ENST00000539891 ENST00000538682
    ENST00000546253 ENST00000536981 ENST00000457660 ENST00000546312(uc010rml.1)

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    Additional mRNA sequence: 

    AB018010.1 AF055031.1 AK025584.1 AK090758.1 AK225304.1 AK304497.1 AK304685.1 AK308797.1 
    AK311592.1 BC001061.2 BC003000.1 J02769.1 J02939.1 J03569.1 NR_037193.1 

    24/69 DOTS entries (see all 69):

    DT.450632  DT.95276672  DT.95276649  DT.120742363  DT.120742364  DT.100890186  DT.95276669  DT.86851357 
    DT.92464850  DT.100890213  DT.100890198  DT.120742315  DT.120742268  DT.120742409  DT.100890206  DT.100890190 
    DT.97855823  DT.95276646  DT.95276650  DT.100890174  DT.100890193  DT.97801673  DT.95276652  DT.100890185 

    24/1216 AceView cDNA sequences (see all 1216):

    BI834552 BG332752 BU731611 BM888321 NM_002394 BM788580 CA309859 BX379490 
    CR605685 AI609106 CR625807 BM918949 BI755205 AU125887 AU124529 BX336187 
    AL558367 BM785843 BM828498 AK025584 BU150295 CB107004 AL534813 BX339735 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC3A2 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for SLC3A2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC3A2 expression in normal human tissues (normalized intensities)      SLC3A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC3A2 Expression
    About this image


    SLC3A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             brain/midbrain/lateral wall   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
             cd31+ cells   
     
     Epithelium (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; squamous epithelial cells   

    See SLC3A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC3A2

    SOURCE GeneReport for Unigene cluster: Hs.502769

    UniProtKB/Swiss-Prot: 4F2_HUMAN, P08195
    Tissue specificity: Expressed ubiquitously in all tissues tested with highest levels detected in kidney, placenta
    and testis and weakest level in thymus. During gestation, expression in the placenta was significantly stronger
    at full-term than at the mid-trimester stage. Expressed in HUVECS and at low levels in resting peripheral blood
    T-lymphocytes and quiescent fibroblasts. Also expressed in fetal liver and in the astrocytic process of primary
    astrocytic gliomas. Expressed in retinal endothelial cells and in the intestinal epithelial cell line C2BBe1

        SABiosciences Expression via Pathway-Focused PCR Array including SLC3A2: 
              Drug Transporters in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC3A2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc3a21 , 5 solute carrier family 3 (activators of dibasic and more1, 5 79.24(n)1
    75.81(a)1
      19 (5.44 cM)5
    172541  NM_001161413.11  NP_001154885.11 
     87068825 
    lizard
    (Anolis carolinensis)
    Reptilia SLC3A26
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL343739.1(74870-88672)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042234.12   -- 75.98(n)    BC042234.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.68842 Danio rerio mRNA similar to solute carrier family 3 more 77.26(n)    BC044497.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CD98hc6
    CD98 heavy chain
    16(a)
    1 ↔ 1
    3R(3800131-3804150)
    worm
    (Caenorhabditis elegans)
    Secernentea atgp-16
    atgp-26
    Protein ATGP-2, isoform a
    18(a)
    17(a)
    1 ↔ many
    1 ↔ many
    IV(17269342-17272184)
    II(14640096-14644085)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAL326
    MAL126
    (see all 7)
    Maltase (alpha-D-glucosidase), inducible protein i...
    Maltase (alpha-D-glucosidase), inducible protein i...
    (see all 7)
    14(a)
    14(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    II(805351-807105)
    VII(1076599-1078353)


    ENSEMBL Gene Tree for SLC3A2 (if available)
    TreeFam Gene Tree for SLC3A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC3A2 gene
    SLC3A12  
    9 SIMAP similar genes for SLC3A2 using alignment to 11 protein entries:     4F2_HUMAN (see all proteins):
    PACSIN2    FLJ20555    KIAA1651    AHSA1    FAM138D    FAM138A
    FAM138B    FAM138C    FAM138F

    SLC3A2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/627 SNPs in SLC3A2 are shown (see all 627)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925701011,2
    --62625390(+) GAAGTA/GTGTAG 3 -- int10--------
    rs127947631,2
    C,F,H--62625512(+) AATTAT/GACATA 3 -- int121Minor allele frequency- G:0.17NS EA NA 2524
    rs108973001,2
    C,F,A,H--62625786(+) GCTCCA/GGCTGA 3 -- int18Minor allele frequency- G:0.13NS EA NA WA 660
    rs112312541,2
    C,H--62625846(+) CAAAAG/TAATCC 3 -- int14Minor allele frequency- T:0.00NS EA 418
    rs5606031,2
    C,F--62625911(+) TggccG/Aggcgt 3 -- int13Minor allele frequency- A:0.33NA WA 6
    rs122218781,2
    C,F,A,H--62626031(+) ttctcC/Gtaagg 3 -- int16Minor allele frequency- G:0.11NS EA WA NA 654
    rs1508295881,2
    --62626061(+) AAGAAA/GAAGAC 3 -- int10--------
    rs764569891,2
    C--62626132(-) TGGCGA/GGATCC 3 -- int12Minor allele frequency- G:0.00NA 4
    rs790438651,2
    F--62626218(-) CCCACT/AATTGT 3 -- int12Minor allele frequency- A:0.00NA 4
    rs1133725601,2
    C--62626402(+) GTAGAC/TGGAGC 3 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for SLC3A2 (62623484 - 62656355 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC3A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509416CNV Insertion20534489
    nsv483055CNV Loss15286789
    nsv508636CNV Loss20534489
    esv34011CNV Loss18971310

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 158070    OMIM disorders: --

    20/30 diseases for SLC3A2 (see all 30):    About MalaCards
    halo nevi    heavy chain disease    cystinuria    lysinuric protein intolerance
    aminoaciduria    thymic epithelial tumor    cholesteatoma    papillary carcinoma
    bladder carcinoma    transitional cell carcinoma    leiomyoma    choriocarcinoma
    acute leukemia    intrahepatic cholangiocarcinoma    cholangiocarcinoma    ulcerative colitis
    oral squamous cell carcinoma    inflammatory bowel disease    astrocytoma    type 1 diabetes

    2 diseases from the University of Copenhagen DISEASES database for SLC3A2:
    Heavy chain disease     Cystinuria

    SLC3A2 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for SLC3A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysinuric protein intolerance 86.4 1 10990376 (1)
    cystinuria 83.9 1 10990376 (1)
    tumors 2.45 8 17622555 (2), 15485886 (2), 10471392 (1), 11169447 (1)
    colitis ulcerative 2.44 1 1889695 (1)
    breast carcinoma 0.237 1 10196234 (1)
    virus infection 0 1 12181350 (1)
    inflammation 0 5 17023546 (2), 19892711 (1)
    cancer 0 3 15485886 (2), 12181350 (1)

    Genetic Association Database (GAD): SLC3A2
    Human Genome Epidemiology (HuGE) Navigator: SLC3A2 (5 documents)

    Export disorders for SLC3A2 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)
    About This Section

    PubMed articles for SLC3A2 gene, integrated from 9 sources (see all 207):
    (articles sorted by number of sources associating them with SLC3A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of the human 4F2 antigen heavy chain predicts a transmembrane protein with a cytoplasmic NH2 terminus. (PubMed id 3036867)1, 2, 3 Teixeira S.... Kuehn L.C. (1987)
    2. Ecto-phosphorylation of CD98 regulates cell-cell interactions. (PubMed id 19065266)1, 2, 9 Nguyen H.T.T....Merlin D. (2008)
    3. Beta1 integrins show specific association with CD98 protein in low density membranes. (PubMed id 11696247)1, 2, 9 Kolesnikova T.V.... Hemler M.E. (2001)
    4. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (PubMed id 9829974)1, 2, 9 Torrents D.... Palacin M. (1998)
    5. CD98 and intracellular adhesion molecule I regulate the activity of amino acid transporter LAT-2 in polarized intestinal epithelia. (PubMed id 12716892)1, 2, 9 Liu X....Merlin D. (2003)
    6. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PubMed id 17558306)1, 4, 9 Kuhne A....Brockmoller J. (2007)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1, 2 Meierhofer D.... Kaiser P. (2008)
    9. The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane. (PubMed id 17724034)1, 2 Fort J.... Palacin M. (2007)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6520 HGNC: 11026 AceView: SLC3A2 Ensembl:ENSG00000168003 euGenes: HUgn6520
    ECgene: SLC3A2 Kegg: 6520 H-InvDB: SLC3A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC3A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC3A2 gene:
    Search GeneIP for patents involving SLC3A2

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



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    About This Section

     
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