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

SLC7A4 Gene

protein-coding   GIFtS: 52
GCID: GC22M021383

solute carrier family 7 (orphan transporter), member 4

(Previous names: solute carrier family 7 (cationic amino acid transporter,...)
 Explore 14 diseases affiliated with
SLC7A4 via our new
 Human Malady Compendium 
Biological research products
for SLC7A4
    

(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 (Orphan Transporter), Member 41 2     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 41 2
CAT-41 2 3     Solute Carrier Family 7 Member 42 3
CAT42 3 5     Cationic Amino Acid Transporter 42
HCAT31 2     Ig Heavy Chain Variable Region2
VH1 2     VH 3 Family2

External Ids:    HGNC: 110621   Entrez Gene: 65452   Ensembl: ENSG000000999607   OMIM: 6037525   UniProtKB: O432463   

Export aliases for SLC7A4 gene to outside databases

Previous GC identifers: GC22M018081 GC22M019707 GC22M004651


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

UniProtKB/Swiss-Prot: CTR4_HUMAN, O43246
Function: Involved in the transport of the cationic amino acids (arginine, lysine and ornithine)

Gene Wiki entry for SLC7A4


(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A4 gene promoter:
         ER-alpha   AP-2gamma   HNF-1A   HEN1   POU2F1   POU2F1a   HSF2   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC7A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A4


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

SLC7A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A4 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M021383:  view genomic region     (about GC identifiers)

Start:
21,383,007 bp from pter      End:
21,387,129 bp from pter
Size:
4,123 bases      Orientation:
minus strand

(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: CTR4_HUMAN, O43246 (See protein sequence)
Recommended Name: Cationic amino acid transporter 4  
Size: 635 amino acids; 68268 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: Q0P5U2 Q3KNQ6 Q4VC45 Q6IBY8 Q96H88

Explore the universe of human proteins at neXtProt for SLC7A4: NX_O43246

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43246

  • SLC7A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004164.2  
    ENSEMBL proteins: 
     ENSP00000384278   ENSP00000372390   ENSP00000408727  

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    Uscn Proteins for SLC7A4

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    SLC7A4 for ontologies           About GeneDecksing



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

    SLC7A4 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015606 Cat-AATrans
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry O43246

    ProtoNet protein and cluster: O43246

    UniProtKB/Swiss-Prot: CTR4_HUMAN, O43246
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT)
    (TC 2.A.3.3) family


    (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: CTR4_HUMAN, O43246
    Function: Involved in the transport of the cationic amino acids (arginine, lysine and ornithine)

         Genatlas biochemistry entry for SLC7A4:
    solute carrier family 7,member A4,high affinity sodium independent,cationic amino-acid transporter,y+ type

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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015171amino acid transmembrane transporter activity ----
    GO:0015174basic amino acid transmembrane transporter activity TAS9598310


    SLC7A4 for ontologies           About GeneDecksing



    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A4

    2 Interacting proteins for SLC7A4 (O432463) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAR1BQ9Y6B63I2D: score=1 
    SEC23AQ154363I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process TAS9598310
    GO:0006810transport TAS9598310
    GO:0015802basic amino acid transport TAS9598310


    SLC7A4 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for SLC7A4

    3 DrugBank Compounds for SLC7A4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Lysine(S)-2,6-diaminohexanoic acid (see all 6)56-87-1target--17139284 17016423 15746185
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--17139284 17016423
    L-Arginine(S)-2-Amino-5-guanidinovaleric acid (see all 4)74-79-3target--17329401

    Search CenterWatch for drugs/clinical trials and news about SLC7A4 / CTR4 

    (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 SLC7A4 gene: 
    NM_004173.2  

    Unigene Cluster for SLC7A4:

    Solute carrier family 7 (orphan transporter), member 4
    Hs.197116  [show with all ESTs]
    Unigene Representative Sequence: BC062565
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403586 ENST00000382932(uc002zud.3 uc002zue.3) ENST00000426145


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC7A4:
    hsa-miR-544b
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC7A4 (see all 7)
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    Additional cDNA sequence: 

    AJ000730.1 BC008814.2 BC062565.1 BC107160.1 BC107161.1 CR456580.1 

    5 DOTS entries:

    DT.204083  DT.75101186  DT.100008827  DT.91680576  DT.91841464 

    24/46 AceView cDNA sequences (see all 46):

    BC008814 BU751855 BE732966 AI341590 BX279813 CR456580 AI990519 BG704842 
    BI918999 AJ000730 N31854 NM_004173 AW172291 BU751854 BC062565 BF057801 
    AA324265 BE208542 AI954685 AW197462 AA604864 T39368 AW057532 AI187747 

    GeneLoc Exon Structure


    (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

    SLC7A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGCCTGCTG

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

    About this image

    SLC7A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC7A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A4

    SOURCE GeneReport for Unigene cluster: Hs.197116
        SABiosciences Custom PCR Arrays for SLC7A4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A4

    (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 SLC7A4 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC7A41 solute carrier family 7 (orphan transporter), member more 73.11(n)
    72.27(a)
      427062  XM_424658.3  XP_424658.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC7A46
    --
    64(a)
    1 ↔ 1
    GL343417.1(789685-792722)
    zebrafish
    (Danio rerio)
    Actinopterygii slc7a42 solute carrier family 7 (cationic amino acid transporter, more 74.55(n)   378481  NM_194427.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG132481 , 3 cationic amino acid transporter3
    CG132481
    41(a)3
    53.6(n)1
    44.01(a)1
      402541  NM_140962.11  NP_649219.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C50D2.23 amino acid permease 40(a)
    (best of 3)
      II(109203-111230)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CAT36
    CAT26
    (see all 9)
    cationic amino acid transporter 2
    (see all 9)
    29(a)
    28(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    5(14590166-14594384)
    1(21464001-21468420)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 11)
    amino acid permease, putative, expressed
    (see all 11)
    30(a)
    29(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    12(26587454-26592524)
    3(25502315-25508064)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria plaP6
    puuP6
    (see all 3)
    putrescine importer
    (see all 3)
    20(a)
    19(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    Chromosome(2083728-2085086)
    Chromosome(1355826-1357211)


    ENSEMBL Gene Tree for SLC7A4 (if available)
    TreeFam Gene Tree for SLC7A4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A4 gene
    SLC7A62  SLC7A92  SLC7A142  SLC7A32  SLC7A102  SLC7A132  SLC7A72  SLC7A112  
    SLC7A82  SLC7A22  SLC7A12  SLC7A52  
    4 SIMAP similar genes for SLC7A4 using alignment to 2 protein entries:     CTR4_HUMAN (see all proteins):
    SLC7A1    SLC7A2    SLC7A3    SLC7A14

    SLC7A4 for paralogs           About GeneDecksing



    (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

    10/173 NCBI SNPs in SLC7A4 are shown (see all 173    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912929231,2
    --21382547(+) GGGCAA/GAGACA 3 -- ds5001 int10--------
    rs754494881,2
    F,--21382595(+) GCTGTC/TGCCTC 3 -- ds5001 int11Minor allele frequency- T:0.02WA 118
    rs8808831,2
    C,F,A,H,--21382613(+) GCACAA/GGCATG 3 -- int1 ds500110Minor allele frequency- G:0.38NS EA WA NA CSA 632
    rs59971751,2
    C,--21382627(+) CCCAGG/CGTAGT 3 -- ds5001 int12Minor allele frequency- C:0.25NA WA 4
    rs1156767261,2
    F,--21382741(+) GGGCCC/TAAGCT 3 -- ds5001 int11Minor allele frequency- T:0.04WA 118
    rs8808811,2
    C,--21382864(+) AGGCCC/TACCTG 1 -- int12Minor allele frequency- T:0.28NA 122
    rs8808821,2
    C,F,A,H,--21382896(+) CCAGGC/ACTGGC 1 -- int115Minor allele frequency- A:0.42MN NS EA WA NA CSA 2638
    rs1483299671,2
    --21382992(+) ACAAAC/GAATGC 1 -- int10--------
    rs1839787911,2
    --21383080(+) ATCCAC/TCCCAC 1 -- ut310--------
    rs20752781,2
    C,F,A,H,--21383282(+) CGGCTT/CGTCTG 1 -- ut31 ese314Minor allele frequency- C:0.31NS EA NA WA CSA 918

    HapMap Linkage Disequilibrium report for SLC7A4 (21383007 - 21387129 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SLC7A4
         2 CNVs: 5170 30159

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC7A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A4

    (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

    SLC7A4 for disorders           About GeneDecksing

    OMIM gene information: 603752    OMIM disorders: --

    14 diseases for SLC7A4:    About MalaCards
    diffuse large b-cell lymphoma    b-cell lymphomas    major depressive disorder    farmer's lung
    chromophobe adenoma    velocardiofacial syndrome    chronic lymphocytic leukemia    lymphocytic leukemia
    dementia    leukemia    pneumonia    tuberculosis
    neuronitis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: SLC7A4 (3 documents)

    Export disorders for SLC7A4 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 SLC7A4 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SLC7A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. (PubMed id 9598310)1, 2, 3, 9 Sperandeo M.P.... Sebastio G. (1998)
    2. 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)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    4. Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4. (PubMed id 11665818)1, 3 Hammermann R....Racke K. (2001)
    5. Influence of serotonin transporter gene polymorphisms on clozapine response in Brazilian schizophrenics. (PubMed id 20452607)1 Kohlrausch F.B....Hutz M.H. (2010)
    6. Association of serotonin and dopamine gene pathways w ith behavioral subphenotypes in dementia. (PubMed id 20685009)1 Proitsi P....Powell J.F. (2010)
    7. The role of clinical variables, neuropsychological pe rformance and SLC6A4 and COMT gene polymorphisms on the prediction of early res ponse to fluoxetine in major depressive disorder. (PubMed id 20584552)1 Gudayol-FerrAc E....GuA rdia-Olmos J. (2010)
    8. Characterization of de novo diffuse large B-cell lymphoma with a translocation of c-myc and immunoglobulin genes. (PubMed id 18460403)1 Kikuchi A....Ando K. (2008)
    9. Activation of classical protein kinase C decreases transport via systems y+ and y+L. (PubMed id 17329401)7 Rotmann A.... Closs E.I. (2007)
    10. Comparative analysis of ZAP-70 expression and Ig VH mutational status in B-cell chronic lymphocytic leukemia. (PubMed id 17051526)1 Munoz L....Nomdedeu J.F. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6545 HGNC: 11062 AceView: SLC7A4 Ensembl:ENSG00000099960 euGenes: HUgn6545
    ECgene: SLC7A4 H-InvDB: SLC7A4

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SLC7A4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC7A4 gene:
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