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GIFtS

SLC7A9 Gene

protein-coding   GIFtS: 62
GCID: GC19M033321

solute carrier family 7 (glycoprotein-associated amino acid...


(Previous symbol: CSNU3)
 Explore 5 diseases affiliated with
SLC7A9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC7A9    

Aliases
for SLC7A9 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 (Glycoprotein-Associated Amino Acid Transporter
Light Chain, Bo,+ System), Member 91 2
     B(0,+)AT3
CSNU31 2 5     Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 92
Glycoprotein-Associated Amino Acid Transporter B0,+AT12 3     B(0,+)AT3
BAT12 3     Solute Carrier Family 7 Member 93
B(0,+)-Type Amino Acid Transporter 12     

External Ids:    HGNC: 110671   Entrez Gene: 111362   Ensembl: ENSG000000214887   OMIM: 6041445   UniProtKB: P822513   

Export aliases for SLC7A9 gene to outside databases

Previous GC identifers: GC19M033939 GC19M033770 GC19M037997 GC19M038013 GC19M029823


Summaries
for SLC7A9 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 SLC7A9:
This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a
role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears
to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a
disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino
acids. Alternate transcript variants, which encode the same protein, have been found for this gene. (provided by
RefSeq, Jul 2011)

UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids
(system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney
tubule




Genomic Views
for SLC7A9 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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A9 gene promoter:
         RFX1   AML1a   RelA   LUN-1   LCR-F1   C/EBPalpha   MEF-2A   Chx10   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC7A9 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A9


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.1

SLC7A9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A9 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M033321:  view genomic region     (about GC identifiers)

Start:
 33,321,415 bp from pter      End:
 33,360,683 bp from pter
Size:
 39,269 bases      Orientation:
 minus strand

Proteins
for SLC7A9 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: BAT1_HUMAN, P82251 (See protein sequence)
Recommended Name: B(0,+)-type amino acid transporter 1  
Size: 487 amino acids; 53481 Da
Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A1
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: B2R9A6

Explore the universe of human proteins at neXtProt for SLC7A9: NX_P82251

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P82251

    • SLC7A9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001119807.1  NP_001229965.1  NP_055085.1  

    ENSEMBL proteins: 
     ENSP00000464822   ENSP00000468076   ENSP00000023064   ENSP00000465563   ENSP00000468439  
     ENSP00000464726  
    Reactome Protein details: P82251
    Human Recombinant Protein Products: 
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    Uscn Proteins for SLC7A9

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10471498


    SLC7A9 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC7A9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC7A9 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry P82251

    ProtoNet protein and cluster: P82251

    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily


    Function
    for SLC7A9 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: BAT1_HUMAN, P82251
    Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids
    (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney
    tubule

         Genatlas biochemistry entry for SLC7A9:
    solute carrier family,member A9,amino acid transporter,expressed in kidney,liver,small intestine and placenta,BO+AT
    subunit heterodimerizing with 2BAT (SLC3A1) located in the brush border of the plasma membrane of epithelial cells of
    the proximal straight tubule of the nephron,mediating high affinity y+L-type transporter exchanging cationic
    aminoacids and/or neutral aminoacids,sodium independent transport system for cationic and dipolar aminoacids

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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015171amino acid transmembrane transporter activity TAS10799513
    GO:0015175neutral amino acid transmembrane transporter activity ISS--
    GO:0015184L-cystine transmembrane transporter activity TAS10471498
    GO:0042605peptide antigen binding ISS--


    SLC7A9 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC7A9:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-out Slc7a9tm1Nune for SLC7A9
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc7a9):
     homeostasis/metabolism  immune system  renal/urinary system 

    SLC7A9 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC7A9 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 SLC7A9 (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 SLC7A9):
        Protein digestion and absorption


    SLC7A9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A9

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

    5/72 Interacting proteins for SLC7A9 (P822512, 3 ENSP000000230644) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    GNAI1P630963I2D: score=4 
    GPX4P369693I2D: score=4 
    HSP90AA1P079003I2D: score=3 
    DUSP12Q9UNI63I2D: score=2 
    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:0003333amino acid transmembrane transport ----
    GO:0006461protein complex assembly TAS10799513
    GO:0006520cellular amino acid metabolic process TAS10471498
    GO:0006810transport TAS10799513
    GO:0006811ion transport TAS--


    SLC7A9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC7A9 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

    SLC7A9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC7A9

    2 HMDB Compounds for SLC7A9    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Cystine(-)-Cystine (see all 31)56-89-3--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC7A9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cystine(-)-Cystine (see all 5)56-89-3target--17139284 17016423

    1 Novoseek chemical compound relationship for SLC7A9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystine 89.6 8 10810228 (1), 11396607 (1), 12371955 (1), 12621979 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about SLC7A9 / BAT1 

    Transcripts
    for SLC7A9 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 SLC7A9 gene (3 alternative transcripts): 
    NM_001126335.1  NM_001243036.1  NM_014270.4  

    Unigene Cluster for SLC7A9:

    Solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
    Hs.743345  [show with all ESTs]
    Unigene Representative Sequence: AF141289
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590341 ENST00000590465 ENST00000023064(uc002ntt.4 uc002ntv.4 uc002ntu.4 uc021usa.1 uc002ntw.4)
    ENST00000592232 ENST00000587772 ENST00000589659

    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB033548.1 AF141289.1 AJ249199.1 AK026446.1 AK223147.1 AK313708.1 AL365340.1 AL365341.1 
    AY170373.1 BC017962.1 

    3 DOTS entries:

    DT.75101211  DT.91801189  DT.40249011 

    24/35 AceView cDNA sequences (see all 35):

    AF141289 AI674979 NM_014270 BI769541 AB033548 BC017962 AI478181 AY170373 
    AL365341 AK026446 BI517890 AL365340 AW614352 BF222812 BC029802 AJ249199 
    BI762874 AI373263 AW300149 BE048789 BG428597 AA910740 R07018 AI261833 

    GeneLoc Exon Structure


    Expression
    for SLC7A9 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

    SLC7A9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCTTCAGA

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

    SLC7A9 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)
    KidneyProximal TubuleProximal Tubule CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC7A9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A9

    SOURCE GeneReport for Unigene cluster: Hs.743345

    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
    Tissue specificity: Kidney, small intestine, liver and placenta

        SABiosciences Expression via Pathway-Focused PCR Array including SLC7A9: 
              Drug Transporters in human mouse rat

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    In Situ
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    Orthologs
    for SLC7A9 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 SLC7A9 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC7A91 solute carrier family 7 (glycoprotein-associated amino more 71.18(n)
    78.03(a)    		   415768  NM_001199133.1  NP_001186062.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC7A96
    		 --
    		 79(a)
    		 1 ↔ 1
    		 GL343483.1(112517-128265)
    zebrafish
    (Danio rerio)    		 Actinopterygii slc7a91 solute carrier family 7 (cationic amino acid transporter, more 67.67(n)
    70.32(a)    		   567117  XM_690408.2  XP_695500.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG94131 , 3 amino acid transporter3
    CG94131    		 56(a)
    (best of 3)3
    57.12(n)1
    55.16(a)1    		   12F13
    323971  NM_132738.21  NP_572966.11 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria frlA6
    		 predicted fructoselysine transporter
    		 24(a)
    		 1 → many
    		 Chromosome(3497932-3499269)


    ENSEMBL Gene Tree for SLC7A9 (if available)
    TreeFam Gene Tree for SLC7A9 (if available) 

    Paralogs
    for SLC7A9 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A9 gene
    SLC7A62  SLC7A42  SLC7A142  SLC7A32  SLC7A102  SLC7A132  SLC7A72  SLC7A112  
    SLC7A22  SLC7A82  SLC7A12  SLC7A52  
    10 SIMAP similar genes for SLC7A9 using alignment to 3 protein entries:     BAT1_HUMAN (see all proteins):
    SLC7A7    hxCT    lat1    SLC7A5    SLC7A10    SLC7A11
    SLC7A6    SLC7A8    DKFZp686K14185    SLC7A13

    SLC7A9 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC7A9 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

    10/854 NCBI SNPs in SLC7A9 are shown (see all 854)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219084841,2
    		Cpathogenic29837453(-) CGGGCC/TGGGAG 6 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1219084861,2
    		Cpathogenic29853466(-) GATCCC/TCCTGG 6 P L mis11Minor allele frequency- T:0.00EU 1307
    rs1219084871,2
    		Cpathogenic29855662(-) GGCCTA/GTGATG 6 Y C mis11Minor allele frequency- G:0.00NA 4552
    rs793893531,2
    		C,F,pathogenic29856056(+) GGCCGC/TGGTGA 6 T A mis12Minor allele frequency- T:0.00NA EU 5873
    rs799870781,2
    		C,pathogenic29857741(+) AGGACG/ATGGGC 6 /T /M mis12Minor allele frequency- A:0.00NA 4656
    rs1219084801,2
    		C,F,pathogenic29857796(-) CCTACG/AGGCCC 6 /R /G mis11Minor allele frequency- A:0.00NA 4518
    rs1122272491,2
    		--29823616(+) CTATCT/CGCCTT 3 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs172721901,2
    		C,F,--29824337(+) GTCTTC/GTCCCA 3 -- int17Minor allele frequency- G:0.13NA EA 384
    rs557349811,2
    		C,--29824648(+) AAACCC/TCGTCT 3 -- int11Minor allele frequency- T:0.50NA 2
    rs1130072311,2
    		C,F,--29824904(+) GCGCCC/TGCCAC 3 -- int12Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for SLC7A9 (33321415 - 33360683 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC7A9: --
    Human Gene Mutation Database (HGMD): SLC7A9

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC7A9 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
    SLC7A9 for disorders           About GeneDecksing

    OMIM gene information: 604144   
    OMIM disorders: 220100  
    UniProtKB/Swiss-Prot: BAT1_HUMAN, P82251
  • Defects in SLC7A9 are a cause of cystinuria (CSNU) [MIM:220100]. An autosomal disorder characterized by
    • impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the
    proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility
    causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely,
    renal failure

    5 diseases for SLC7A9:    About MalaCards
    cystinuria    aminoaciduria    nephrolithiasis    kidney disease
    ataxia

    2 diseases from the University of Copenhagen DISEASES database for SLC7A9:
    Cystinuria     Nephrolithiasis

    2 Novoseek disease relationships for SLC7A9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystinuria 98.7 99 12371955 (6), 10471498 (4), 11157794 (4), 16609684 (4) (see all 45)
    aminoaciduria 75.4 1 11396607 (1)

    Genetic Association Database (GAD): SLC7A9
    Human Genome Epidemiology (HuGE) Navigator: SLC7A9 (12 documents)

    Export disorders for SLC7A9 gene to outside databases

    Publications
    for SLC7A9 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 SLC7A9 gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with SLC7A9)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. (PubMed id 12820697)1, 2, 4, 9 Harnevik L.... Soderkvist P. (2003)
    2. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. (PubMed id 10471498)1, 2, 3, 9 Feliubadalo L....Palacin M. (1999)
    3. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. (PubMed id 12234283)1, 2, 9 Botzenhart E.... Eggermann T. (2002)
    4. SLC7A9 mutations in all three cystinuria subtypes. (PubMed id 12371955)1, 2, 9 Leclerc D.... Rozen R. (2002)
    5. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria. (PubMed id 11157794)1, 2, 9 Font M.... Palacin M. (2001)
    6. Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls. (PubMed id 12779097)1, 4, 9 Schmidt C....Zappel H.F. (2003)
    7. The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. (PubMed id 14991253)1, 4, 9 Schmidt C....Eggermann T. (2004)
    8. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. (PubMed id 12239244)1, 4, 9 Dello Strologo L....Rizzoni G. (2002)
    9. Human cystinuria-related transporter: localization and functional characterization. (PubMed id 11318953)1, 2, 9 Mizoguchi K.... Kanai Y. (2001)
    10. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. (PubMed id 15635077)1, 4 Font-Llitjos M....Nunes V. (2005)

    External Searches for SLC7A9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing SLC7A9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11136 HGNC: 11067 AceView: SLC7A9 Ensembl:ENSG00000021488 euGenes: HUgn11136
    ECgene: SLC7A9 Kegg: 11136 H-InvDB: SLC7A9

    Other Databases showing SLC7A9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC7A9 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 SLC7A9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A9

    Intellectual Property
    for SLC7A9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC7A9 gene:
    Search GeneIP for patents involving SLC7A9

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