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

SLC3A2 Gene

protein-coding   GIFtS: 62
GCID: GC11P062623

solute carrier family 3 (activators of dibasic and neutral...


(Previous symbol: MDU1)
 Explore 34 diseases affiliated with
SLC3A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC3A2    

Aliases
for SLC3A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 3 (Activators Of Dibasic And Neutral Amino Acid
Transport), Member 21 2
     4F2 Cell-Surface Antigen Heavy Chain2
MDU11 2 3 5     Antigen Defined By Monoclonal Antibody 4F2, Heavy Chain2
NACAE1 2 5     Antigen Identified By Monoclonal Antibodies 4F2, TRA1.10, TROP4, And T432
4F21 2     CD98 Heavy Chain2
4F2HC1 2     Monoclonal Antibody 44D72
4T2HC1 2     4F2hc3
CD981 2     4F2 Heavy Chain Antigen3
CD98HC1 2     CD98 Antigen3
Lymphocyte Activation Antigen 4F2 Large Subunit2 3     

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


Summaries
for SLC3A2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  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:
 62,623,518 bp from pter      End:
 62,656,353 bp from pter
Size:
 32,836 bases      Orientation:
 plus strand

Proteins
for SLC3A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylation on Ser-406; Ser-408 or Ser-410 and on Ser-527 or Ser-531 by ecto-protein kinases favors heterotypic
    • cell-cell interactions1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P08195

    • SLC3A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Purified Proteins (see all 2): SLC3A2
    OriGene Protein Over-expression Lysate (see all 7): SLC3A2
    OriGene Custom Protein Services for SLC3A2 
    GenScript Custom Purified and Recombinant Proteins Services for SLC3A2
    Novus Biologicals SLC3A2 Proteins
    Novus Biologicals SLC3A2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for SLC3A2

    Protein Domains /
    Families
    for SLC3A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC3A2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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


    Function
    for SLC3A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    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 plasmid: SLC3A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC3A2 (see all 7)
    OriGene shRNA RFP: SLC3A2
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC3A2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC3A2 (see all 8)
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    Cell Line
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    Search LifeMap BioReagents cell lines for SLC3A2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC3A2

    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 IPI10631289
    GO:0015175neutral amino acid transmembrane transporter activity ISS--
    GO:0043169cation binding IEA--


    SLC3A2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC3A2:
     Decreased viability after Chla 

    Animal Models:
         Mouse knock-out Slc3a2tm1Yai for SLC3A2
         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


    Pathways & Interactions
    for SLC3A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    		Amino acid and oligopeptide SLC transporters1.00
    		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 transport1.00
    		Transmembrane transport of small molecules0.50
    3Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    4Basigin interactions
    		Basigin interactions1.00
    5Sodium-coupled transporters and pumps
    		Sodium-coupled transporters and pumps1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/98 Interacting proteins for SLC3A2 (P081952, 3 ENSP000003671244) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    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 TAS--
    GO:0007596blood coagulation TAS--


    SLC3A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC3A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for SLC3A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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)


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC3A2:
    hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmid: SLC3A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC3A2 (see all 7)
    OriGene shRNA RFP: SLC3A2
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC3A2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): SLC3A2 (NM_001012662)
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    Primer
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    Additional cDNA 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):

    AU132641 CB138799 AU120597 AU139352 BM754948 BQ000393 BF724983 CA416930 
    CR604593 BM704916 BP338762 BE795849 R38729 BU678305 BM837195 BP369216 
    BQ680143 BM834290 CR606042 BU631789 AL537831 AA436337 BM738320 CB107004 

    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

    Expression
    for SLC3A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC3A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    BrainMeningesBrain
    Gut TubeMidgutGut Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    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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    In Situ
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    Orthologs
    for SLC3A2 gene

    (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.

    Orthologs for SLC3A2 gene from 5/13 species (see all 13)    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
    		 --
    		 49(a)
    		 1 ↔ 1
    		 GL343739.1(77541-88672)
    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
    		 18(a)
    		 1 ↔ 1
    		 3R(3800131-3804150)


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

    Paralogs
    for SLC3A2 gene

    (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



    Genomic Variants
    for SLC3A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/608 NCBI SNPs in SLC3A2 are shown (see all 608)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs714686181,2
    		C--58981337(+) TTAGCTTTTT/- 
                TTTTT     		1 -- int11Minor allele frequency- -:0.50NA 2
    rs1421238941,2
    		C,--62621543(+) GAATC-/AAAAAA 8 -- us2k1 int10--------
    rs1169035211,2
    		--62621757(+) TTGGAG/ACAGAA 9 -- us2k1 ds5001 int11Minor allele frequency- A:0.01NA 120
    rs787504891,2
    		F,--62622090(+) ACAACA/GACTGC 10 -- us2k1 int1 ds50011Minor allele frequency- G:0.03WA 118
    rs1379628971,2
    		--62622450(+) AAAAAC/TAGTCA 11 -- ds5001 int1 us2k10--------
    rs1822304321,2
    		--62622542(+) TTTGTG/TTTCAT 11 -- us2k1 int1 ds5001 nc-transcript-variant0--------
    rs1866197411,2
    		--62622774(+) TCAGAA/CTTTTC 11 -- us2k1 ds5001 int1 nc-transcript-variant0--------
    rs1470991941,2
    		C,--62622778(+) AATTT-/TCTGTTT 11 -- us2k1 nc-transcript-variantint1 ds50010--------
    rs1424080331,2
    		--62622911(+) GAGCTA/CTCTTC 10 -- us2k1 ds5001 nc-transcript-variant0--------
    rs115586741,2
    		C,F,--62622922(-) ACGTTG/CGAACC 10 -- us2k1 ds5001 nc-transcript-variant1Minor allele frequency- C:0.06WA 118

    HapMap Linkage Disequilibrium report for SLC3A2 (62623518 - 62656353 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SLC3A2
         2 CNVs: 0150 47961

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    Disorders / Diseases
    for SLC3A2 gene

    (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.)
    About This Section
    SLC3A2 for disorders           About GeneDecksing

    OMIM gene information: 158070    OMIM disorders: --

    20/34 diseases for SLC3A2 (see all 34):    About MalaCards
    lysinuric protein intolerance    halo nevi    thymic epithelial tumor    cystinuria
    oral squamous cell carcinoma    squamous cell carcinoma    aminoaciduria    inflammatory bowel disease
    transitional cell carcinoma    intrahepatic cholangiocarcinoma    ulcerative colitis    cholesteatoma
    papillary carcinoma    bladder carcinoma    breast carcinoma    carcinoma
    cholangiocarcinoma    acute leukemia    leiomyoma    choriocarcinoma

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

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SLC3A2 (5 documents)

    Export disorders for SLC3A2 gene to outside databases

    Publications
    for SLC3A2 gene

    (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 196):
    (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. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1, 2 Meierhofer D.... Kaiser P. (2008)
    7. 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)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)

    External Searches for SLC3A2 gene

    (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)

    Genome Databases showing SLC3A2 gene

    (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

    Other Databases showing SLC3A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC3A2 gene

    (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

    Intellectual Property
    for SLC3A2 gene

    (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



    Products
    for SLC3A2 gene

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    About This Section

     
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