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

SLC7A8 Gene

protein-coding   GIFtS: 59
GCID: GC14M023594

solute carrier family 7 (amino acid transporter light chain,...
 Explore 13 diseases affiliated with
SLC7A8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC7A8    

Aliases
for SLC7A8 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 7 (Amino Acid Transporter Light Chain, L System),
Member 81 2
     Large Neutral Amino Acids Transporter Small Subunit 22
LAT21 2 3 5     Solute Carrier Family 7 (Amino Acid Transporter, L-Type), Member 82
LPI-PC11 2     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 82
L-Type Amino Acid Transporter 22 3     HLAT21
Integral Membrane Protein E16H2     Solute Carrier Family 7 Member 83

External Ids:    HGNC: 110661   Entrez Gene: 234282   Ensembl: ENSG000000920687   OMIM: 6042355   UniProtKB: Q9UHI53   

Export aliases for SLC7A8 gene to outside databases

Previous GC identifers: GC14M020966 GC14M017381 GC14M021584 GC14M022664 GC14M003711


Summaries
for SLC7A8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: LAT2_HUMAN, Q9UHI5
Function: Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine,
threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc.
Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine
and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of
neutral amino acids. 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. Involved in the cellular
activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO)
across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells
to the bloodstream in the kidney

Gene Wiki entry for SLC7A8


Genomic Views
for SLC7A8 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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A8 gene promoter:
         MZF-1   PPAR-gamma1   FAC1   AML1a   Ik-2   HSF2   Sox9   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC7A8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A8


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

SLC7A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A8 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023594:  view genomic region     (about GC identifiers)

Start:
 23,594,504 bp from pter      End:
 23,652,883 bp from pter
Size:
 58,380 bases      Orientation:
 minus strand

Proteins
for SLC7A8 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: LAT2_HUMAN, Q9UHI5 (See protein sequence)
Recommended Name: Large neutral amino acids transporter small subunit 2  
Size: 535 amino acids; 58382 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc
Subcellular location: Cytoplasm. Basolateral cell membrane; Multi-pass membrane protein. Note=Localized to the
cytoplasm when expressed alone but when coexpressed with SLC3A2/4F2hc, is localized to the plasma membrane.
Colocalized with SLC3A2/4F2hc at the basolateral membrane of kidney cortex proximal tubules and small intestine
epithelia of the villi
Miscellaneous: L-leucine transport activity inhibited by small zwitterionic amino acids (i.e. glycine, alanine, serine,
threonine asparginine, glutamine, methionine, leucine, isoleucine, valine, phenylalanine, tyrosine, tryptophan,
histidine and cysteine) and by glutamine and asparginine. Methionine uptake was inhibited by the L-system substrates
L-leucine, 2-amino-bicyclo-(2,2,1)-heptane-2-carboxylate (BCH), L-cysteine and by the MeHg-L-cysteine complex and
structurally related S-ethyl-L-cysteine. MeHg-L-cysteine uptake is inhibited by L-methionine, L-leucine, BCH and
S-ethyl-L-cysteine. L-leucine uptake was inhibited by L-CNSO
Secondary accessions: B2R8Q4 D3DS46 Q9UKQ6 Q9UKQ7 Q9UKQ8 Q9Y445

Explore the universe of human proteins at neXtProt for SLC7A8: NX_Q9UHI5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHI5

    • SLC7A8 Protein expression data from MOPED and PaxDb:    About this image 
    SLC7A8 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001253965.1  NP_001253966.1  NP_036376.2  NP_877392.1  

    ENSEMBL proteins: 
     ENSP00000343949   ENSP00000320378   ENSP00000435114   ENSP00000391577   ENSP00000434345  
     ENSP00000435865   ENSP00000434352   ENSP00000436665   ENSP00000416398  
    Reactome Protein details: Q9UHI5
    Human Recombinant Protein Products for SLC7A8: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate (see all 2): SLC7A8
    OriGene Custom Protein Services for SLC7A8 
    GenScript Custom Purified and Recombinant Proteins Services for SLC7A8
    Novus Biologicals SLC7A8 Proteins
    Novus Biologicals SLC7A8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC7A8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10391915
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IEA--

    SLC7A8 for ontologies           About GeneDecksing



    SLC7A8 Antibody Products: 
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    OriGene Antibodies (see all 6): SLC7A8
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    Novus Biologicals SLC7A8 Antibodies
    Abcam antibodies for SLC7A8 
    Uscn Antibodies for SLC7A8
    Search ThermoFisher Antibodies for SLC7A8

    Assay Products for SLC7A8: 
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    Uscn ELISAs and CLIAs for SLC7A8

    Protein Domains /
    Families
    for SLC7A8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC7A8 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002293 AA/rel_permease1
     IPR004760 L_AA_transporter

    Graphical View of Domain Structure for InterPro Entry Q9UHI5

    ProtoNet protein and cluster: Q9UHI5

    UniProtKB/Swiss-Prot: LAT2_HUMAN, Q9UHI5
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC
    2.A.3.8) family


    Function
    for SLC7A8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAT2_HUMAN, Q9UHI5
    Function: Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine,
    threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc.
    Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine
    and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of
    neutral amino acids. 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. Involved in the cellular
    activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO)
    across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells
    to the bloodstream in the kidney
    Biophysicochemical properties: Kinetic parameters: KM=221 uM for L-leucine; KM=64 uM for MeHg-L-cysteine; KM=161 uM for
    methionine; KM=978 uM for L-alanine; KM=89.35 uM for L-phenylalanine; KM=57.3 uM for L-tryptophan; KM=48.8 uM for
    L-tyrosine;
    Induction: Activity in polarized intestinal cells is regulated by the association between SLC3A2/4F2 (in the
    SLC3A2/4F2-LAT2 heterodimer) and ICAM1

         Genatlas biochemistry entry for SLC7A8:
    solute carrier family 7 member 8,cation aminoacid transport,highly expressed in skeletal
    muscle,intestine,kidney,placenta and in retinal pigmented epithelium,heterodimerizing with the cell surface
    glycoprotein 4F2hc/CD98 at the basolateral membrane to form a complex mediating y+L-type transporter exchanging
    cationic aminoacids and/or neutral aminoacids together with sodium,glycoprotein associated aminoacid transporter
    family,not mutated in lysinuric protein intolerance

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12716892
    GO:0015101organic cation transmembrane transporter activity IDA12117417
    GO:0015171amino acid transmembrane transporter activity ISS--
    GO:0015175neutral amino acid transmembrane transporter activity TAS10391915
    GO:0015179L-amino acid transmembrane transporter activity IEA--
         
    SLC7A8 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc7a8):
     behavior/neurological  nervous system 

    SLC7A8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC7A8 

    miRNA
    Products:            		miRTarBase miRNAs that target SLC7A8:
    hsa-mir-155 (MIRT005092)

    OriGene 3'-UTR Clone (see all 2): SLC7A8
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC7A8
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A8 (see all 41):
    hsa-miR-548j hsa-miR-486-3p hsa-miR-766 hsa-miR-124 hsa-miR-9 hsa-miR-133a hsa-miR-3613-3p hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC7A8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC7A8 (see all 7)
    OriGene shRNA RFP: SLC7A8
    OriGene siRNA: SLC7A8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A8
    Sirion Biotech Custom design and validation of potent shRNA sequences against SLC7A8 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC7A8
    Sirion Biotech Customized adenovirus for overexpression of SLC7A8 
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC7A8 (see all 4)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC7A8 (NM_182728)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC7A8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A8 

    Cell Line
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    Search LifeMap BioReagents cell lines for SLC7A8
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    Sirion Biotech Customized inducible overexpressing cell line services for SLC7A8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A8


    Pathways & Interactions
    for SLC7A8 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 - 5/6 super-pathways (see all 6) 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
    3Basigin interactions
    		Basigin interactions1.00
    4Protein digestion and absorption
    		Protein digestion and absorption1.00
    5Cell surface interactions at the vascular wall
    		Cell surface interactions at the vascular wall1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for SLC7A8 (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 SLC7A8):
        Protein digestion and absorption


    SLC7A8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC7A8

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC7A8 (Q9UHI53 ENSP000003203784) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAATQ140323, ENSP000002594074I2D: score=1 STRING: ENSP00000259407
    SLC3A1Q078373, ENSP000002606494I2D: score=1 STRING: ENSP00000260649
    SLC3A2P081953, ENSP000003671244I2D: score=2 STRING: ENSP00000367124
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003333amino acid transmembrane transport ----
    GO:0006520cellular amino acid metabolic process TAS10391915
    GO:0006810transport TAS10391915
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--

    SLC7A8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC7A8 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

    SLC7A8 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC7A8

    6 HMDB Compounds for SLC7A8    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    L-Leucine(2S)-2-Amino-4-methylpentanoate (see all 16)61-90-5--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    SodiumSodium (see all 2)7440-23-5--

    3 DrugBank Compounds for SLC7A8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9transportersubstrate16785209 17273864 16308696 17504263 16249471
    L-Phenylalanine(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)63-91-2target--12930836 10574970 12101005 9349567 12498902
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--17504263

    9 Novoseek chemical compound relationships for SLC7A8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-aminobicyclo(2,2,1)heptane-2-carboxylic acid 93.4 1 10391915 (1)
    leucine 65.1 4 19890975 (2), 15863273 (1)
    l-amino acid 63.9 5 10673541 (1), 10391915 (1), 11230513 (1)
    melphalan 56.7 8 17558306 (4), 19075510 (1), 19447222 (1)
    cystine 52.1 4 12660317 (3)
    phenylalanine 34.9 3 17558306 (1), 10574970 (1)
    alanine 26.5 2 12660317 (1), 10574970 (1)
    cysteine 16.5 3 12660317 (2)
    threonine 15.4 1 12660317 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC7A8 / LAT2 

    Transcripts
    for SLC7A8 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, Sirion Biotech, 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 SLC7A8 gene (4 alternative transcripts): 
    NM_001267036.1  NM_001267037.1  NM_012244.3  NM_182728.2  

    Unigene Cluster for SLC7A8:

    Solute carrier family 7 (amino acid transporter light chain, L system), member 8
    Hs.596643  [show with all ESTs]
    Unigene Representative Sequence: NM_012244
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339733(uc001wiy.3) ENST00000316902(uc001wix.3 uc010tnk.2 uc010tnl.2 uc001wiz.3 uc010akj.3)
    ENST00000397310(uc001wiw.3) ENST00000469263 ENST00000453702 ENST00000529705
    ENST00000528860 ENST00000528806 ENST00000528186 ENST00000532568 ENST00000524758
    ENST00000525062 ENST00000422941

    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A8 (see all 41):
    hsa-miR-548j hsa-miR-486-3p hsa-miR-766 hsa-miR-124 hsa-miR-9 hsa-miR-133a hsa-miR-3613-3p hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC7A8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC7A8 (see all 7)
    OriGene shRNA RFP: SLC7A8
    OriGene siRNA: SLC7A8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC7A8
    Sirion Biotech Custom design and validation of potent shRNA sequences against SLC7A8 
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC7A8 (NM_182728)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC7A8 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC7A8
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    Additional cDNA sequence: 

    AB037669.1 AF087908.1 AF087911.1 AF135828.1 AF135829.1 AF135830.1 AF171669.1 AK223610.1 
    AK296702.1 AK300384.1 AK307609.1 AK313465.1 AL365342.1 AL365343.2 AL365344.1 AL365345.1 
    AL365346.1 AL365347.1 AL365414.1 BC036825.1 BC052250.1 BX248288.1 NR_049767.1 Y18483.1 

    23 DOTS entries:

    DT.311443  DT.100697969  DT.92441563  DT.100791464  DT.92441552  DT.101982645  DT.100791459  DT.100791465 
    DT.95184464  DT.75200329  DT.101982647  DT.100791463  DT.120748368  DT.120748434  DT.95204226  DT.95257171 
    DT.100791466  DT.120748335  DT.120748412  DT.91748546  DT.91906748  DT.92441555  DT.120748487 

    24/264 AceView cDNA sequences (see all 264):

    BU951687 CD671134 N26363 BM705117 CK819644 BF436339 NM_182728 BG403071 
    BM128568 BU194551 NM_012244 BM129428 AI492024 AF135828 BF058899 Z38621 
    N23174 BU846479 BU735576 AA812880 CA417408 AI249760 BM699297 CB178024 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A8 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for SLC7A8

    Expression
    for SLC7A8 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

    SLC7A8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGTCTTGGG
    SLC7A8 Expression
    About this image

    SLC7A8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC7A8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A8

    SOURCE GeneReport for Unigene cluster: Hs.596643

    UniProtKB/Swiss-Prot: LAT2_HUMAN, Q9UHI5
    Tissue specificity: Strongest expression is observed in kidney and moderate expression in placenta and brain, followed
    by liver, prostate, testis, ovary, lymph node, thymus, spleen, skeletal muscle and heart. Also expressed in fetal
    liver as well as in the retinal pigment epithelial cell line ARPE-19 and the intestinal epithelial cell line Caco-2

        SABiosciences Expression via Pathway-Focused PCR Array including SLC7A8: 
              Drug Transporters in human mouse rat

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    In Situ
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    Orthologs
    for SLC7A8 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 last universal common ancestor (LUCA).

    Orthologs for SLC7A8 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia SLC7A86
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343776.1(37418-52270)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC044971.12   -- 80.52(n)    BC044971.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-14a17.31 si:ch211-14a17.3 75.72(n)
    84.77(a)    		   100007704  XM_001344060.3  XP_001344096.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta mnd3
    CG16071    		 amino acid transporter3
    CG16071    		 50(a)
    (best of 3)3
    56.63(n)1
    51.02(a)1    		   437071  NM_143608.11  NP_651865.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F27C8.13
    aat-11    		 integral membrane protein E16 like3
    Protein AAT-11    		 47(a)
    (best of 8)3
    52.77(n)1
    48.46(a)1    		   IV(9599614-9601874)3
    1777931  NM_069306.31  NP_501707.11 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria frlA6
    		 predicted fructoselysine transporter
    		 22(a)
    		 1 → many
    		 Chromosome(3497932-3499269)


    ENSEMBL Gene Tree for SLC7A8 (if available)
    TreeFam Gene Tree for SLC7A8 (if available) 

    Paralogs
    for SLC7A8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A8 gene
    SLC7A62  SLC7A42  SLC7A92  SLC7A142  SLC7A32  SLC7A102  SLC7A132  SLC7A72  
    SLC7A112  SLC7A22  SLC7A12  SLC7A52  
    14 SIMAP similar genes for SLC7A8 using alignment to 9 protein entries:     LAT2_HUMAN (see all proteins):
    SLC7A5    lat1    SLC7A6    SLC7A5P1    SLC7A10    DKFZp686K14185
    SLC7A5P2    SLC7A7    SLC7A9    hxCT    xCT    SLC7A11
    SLC7A1    SLC7A13

    SLC7A8 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC7A8 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

    10/1082 NCBI SNPs in SLC7A8 are shown (see all 1082)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs104381261,2
    		C--23594011(+) TTTATC/TTTTTG 5 -- int14Minor allele frequency- T:0.12NA WA EA 360
    rs1441505931,2
    		--23594050(+) GGCTGA/GTCTCA 5 -- int10--------
    rs1153935441,2
    		F--23594110(+) GATTAC/TGGGAG 5 -- int11Minor allele frequency- T:0.03WA 118
    rs1115473421,2
    		C--23594111(+) ATTACG/AGGAGT 5 -- int11Minor allele frequency- A:0.50NA 2
    rs1838024721,2
    		--23594124(+) GCCGCC/TGTGCC 5 -- int10--------
    rs1167153481,2
    		--23594157(+) AAAGTG/AACTAA 5 -- int11Minor allele frequency- A:0.01WA 118
    rs1176517061,2
    		--23594267(+) CAGAAT/GTACAG 5 -- int11Minor allele frequency- G:0.01NA 120
    rs1892190351,2
    		--23594388(+) AAGTTA/GCAGAG 5 -- int10--------
    rs1906223651,2
    		--23594393(+) ACAGAA/GAGCGA 5 -- int10--------
    rs80108471,2
    		C,F,H--23594396(+) GAGAGC/TGAGAG 5 -- int17Minor allele frequency- T:0.13NS EA NA 660

    HapMap Linkage Disequilibrium report for SLC7A8 (23594504 - 23652883 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC7A8: --

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    Disorders / Diseases
    for SLC7A8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC7A8 for disorders           About GeneDecksing

    OMIM gene information: 604235    OMIM disorders: --

    13 diseases for SLC7A8:    About MalaCards
    lysinuric protein intolerance    cystinuria    oral cancer    leiomyoma
    homocysteine    breast cancer    sarcoma    cerebritis
    retinitis    thyroiditis    prostatitis    neuronitis
    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: SLC7A8 (7 documents)

    Export disorders for SLC7A8 gene to outside databases

    Publications
    for SLC7A8 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 SLC7A8 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with SLC7A8)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a membrane protein, LAT-2, that co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. (PubMed id 10391915)1, 2, 3, 9 Pineda M.... Palacin M. (1999)
    2. LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. (PubMed id 10574970)1, 2, 7, 9 Rossier G....Kuhn L.C. (1999)
    3. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (PubMed id 10080183)1, 2, 3 Borsani G....Sebastio G. (1999)
    4. Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule. (PubMed id 15918515)1, 2, 9 Park S.Y....Kim D.K. (2005)
    5. Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. (PubMed id 15769744)1, 2, 9 Li S. and Whorton A.R. (2005)
    6. Association of 4F2hc with light chains LAT1, LAT2 or y+LAT2 requires different domains. (PubMed id 11311135)1, 2, 9 Broeer A.... Broeer S. (2001)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Transport of a neurotoxicant by molecular mimicry: the methylmercury- L-cysteine complex is a substrate for human L-type large neutral amino acid transporter (LAT) 1 and LAT2. (PubMed id 12117417)1, 2 Simmons-Willis T.A.... Ballatori N. (2002)

    External Searches for SLC7A8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing SLC7A8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23428 HGNC: 11066 AceView: SLC7A8 Ensembl:ENSG00000092068 euGenes: HUgn23428
    ECgene: SLC7A8 Kegg: 23428 H-InvDB: SLC7A8

    Other Databases showing SLC7A8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC7A8 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 SLC7A8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC7A8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC7A8 gene:
    Search GeneIP for patents involving SLC7A8

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



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