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

SLC7A2 Gene

protein-coding   GIFtS: 62
GCID: GC08P017354

Solute Carrier Family 7 (Cationic Amino Acid Transporter,...


(Previous symbol: ATRC2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System),
Member 21 2
     Low Affinity Cationic Amino Acid Transporter 22
ATRC21 2 3 5     CAT-23
CAT22 3     Solute Carrier Family 7 Member 23
HCAT22 5     

External Ids:    HGNC: 110601   Entrez Gene: 65422   Ensembl: ENSG000000039897   OMIM: 6018725   UniProtKB: P525693   

Export aliases for SLC7A2 gene to outside databases

Previous GC identifers: GC08P017289 GC08P017475 GC08P017406 GC08P017440 GC08P015899


(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 SLC7A2 Gene:
The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino
acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular
uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for SLC7A2 Gene: 
SLC7A2 (solute carrier family 7 (cationic amino acid transporter, y+ system), member 2) is a protein-coding gene. Diseases associated with SLC7A2 include lysinuric protein intolerance, and nonspecific interstitial pneumonia, and among its related super-pathways are Amino acid transport across the plasma membrane and Transmembrane transport of small molecules. GO annotations related to this gene include L-lysine transmembrane transporter activity and L-ornithine transmembrane transporter activity. An important paralog of this gene is LOC284379.

UniProtKB/Swiss-Prot: CTR2_HUMAN, P52569
Function: Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine,
lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages (By
similarity)

Gene Wiki entry for SLC7A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A2 gene promoter:
         E2F-3a   E2F-1   E2F   Chx10   Nkx2-5   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC7A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC7A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A2


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

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

SLC7A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P017354:  view genomic region     (about GC identifiers)

Start:
17,354,597 bp from pter      End:
17,428,082 bp from pter
Size:
73,486 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: CTR2_HUMAN, P52569 (See protein sequence)
Recommended Name: Low affinity cationic amino acid transporter 2  
Size: 658 amino acids; 71673 Da
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH69648.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI04906.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI13662.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI43584.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: B7ZL54 O15291 O15292 Q14CQ6 Q6NSZ7 Q86TC6
Alternative splicing: 3 isoforms:  P52569-1   P52569-2   P52569-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC7A2: NX_P52569

Explore proteomics data for SLC7A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52569

  • SLC7A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC7A2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001008539.3  NP_001158243.1  NP_003037.4  

    ENSEMBL proteins: 
     ENSP00000419140   ENSP00000430464   ENSP00000419873   ENSP00000004531   ENSP00000381164  
    Reactome Protein details: P52569
    Human Recombinant Protein Products for SLC7A2: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8954799
    GO:0016020membrane TAS8954799
    GO:0016021integral to membrane ----

    SLC7A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Low affinity cationic amino acid transporter 2 
    SLC7 family

    3 InterPro protein domains:
     IPR004755 Cat_AA_permease
     IPR015606 Cat-AATrans
     IPR002293 AA/rel_permease1

    Graphical View of Domain Structure for InterPro Entry P52569

    ProtoNet protein and cluster: P52569

    UniProtKB/Swiss-Prot: CTR2_HUMAN, P52569
    Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter
    (CAT) (TC 2.A.3.3) family


    SLC7A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CTR2_HUMAN, P52569
    Function: Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine,
    lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages (By
    similarity)

         Genatlas biochemistry entry for SLC7A2:
    solute carrier family 7,member A2,high affinity sodium independent,cationic amino-acid transporter,expressed in
    stomach liver,skeletal muscle,skin,brain and lung,y+ type

         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:0000064L-ornithine transmembrane transporter activity IEA--
    GO:0005289high affinity arginine transmembrane transporter activity IEA--
    GO:0015171amino acid transmembrane transporter activity ----
    GO:0015174basic amino acid transmembrane transporter activity TAS8954799
    GO:0015179L-amino acid transmembrane transporter activity ----
         
    SLC7A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC7A2:
     Decreased nuclei size in G2M 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc7a2):
     immune system  no phenotypic analysis 

    SLC7A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc7a2tm1Clm for SLC7A2

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC7A2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC7A2
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Amino acid and oligopeptide SLC transporters
    Amino acid transport across the plasma membrane
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC7A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SLC7A2 (P525693 ENSP000003811644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA1P257863I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002537nitric oxide production involved in inflammatory response IEA--
    GO:0003333amino acid transmembrane transport ----
    GO:0006520cellular amino acid metabolic process TAS8954799
    GO:0006809nitric oxide biosynthetic process IEA--
    GO:0006810transport TAS8954799

    SLC7A2 for ontologies           About GeneDecksing



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

    SLC7A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC7A2 (CTR2)

    2 DrugBank Compounds for SLC7A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Lysine(S)-2,6-diaminohexanoic acid (see all 6)56-87-1target--17139284 17016423 7499219 15746185 12475743
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--17065601 12679322 16703566

    2 Novoseek inferred chemical compound relationships for SLC7A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 65.1 7 16344361 (2), 15976236 (2), 10973927 (1), 12675924 (1)
    nitric oxide 48.9 14 11829538 (2), 12675924 (2), 15044352 (1), 12787129 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about SLC7A2 / CTR2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC7A2 gene (3 alternative transcripts): 
    NM_001008539.3  NM_001164771.1  NM_003046.5  

    Unigene Cluster for SLC7A2:

    Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
    Hs.448520  [show with all ESTs]
    Unigene Representative Sequence: NM_001008539
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494857(uc011kyc.2) ENST00000522656 ENST00000470360(uc011kyd.2)
    ENST00000004531(uc011kye.2) ENST00000398090
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK314287.1 AL512749.1 AL832016.2 BC069648.1 BC104905.1 BC113661.1 BC143583.1 D29990.1 
    U76368.1 U76369.1 

    14 DOTS entries:

    DT.92433903  DT.120635360  DT.120635388  DT.444106  DT.92433895  DT.92433900  DT.100826603  DT.447966 
    DT.100826600  DT.91668896  DT.92419283  DT.97791781  DT.75103048  DT.86847529 

    24/240 AceView cDNA sequences (see all 240):

    CA771330 AI026159 BQ270494 AA370264 BM704629 AA890052 D31131 CK904222 
    R34434 BI258150 AA708944 AA776479 AA699705 AA772114 CD672552 CB156037 
    AA456301 F31413 CA389756 D78212 BC069648 CB216962 U76369 CB162355 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A2    About this scheme

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


    ECgene alternative splicing isoforms for SLC7A2

    (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

    SLC7A2 expression in normal human tissues (normalized intensities)      SLC7A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTGACAGC
    SLC7A2 Expression
    About this image


    SLC7A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Fibroblast
             Human Prostate Fibroblasts (HPrF)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced SK11 cells
             Human Nucleus Pulposus Cells (HNPC)   
             fetal cartilage   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Periportal Hepatocytes Liver Lobule
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
             Human Ovarian Fibroblasts (HOF)   
     
     Mesenchymal Stem Cells
             Decidua-derived mesenchymal cells
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   

    See SLC7A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC7A2

    SOURCE GeneReport for Unigene cluster: Hs.448520

    UniProtKB/Swiss-Prot: CTR2_HUMAN, P52569
    Tissue specificity: Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate
    levels in the liver and pancreas and at low levels in the kidney and heart

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC7A2 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc7a21 , 5 solute carrier family 7 (cationic amino acid transporter, more1, 5 86.4(n)1
    91.48(a)1
      8 (23.89 cM)5
    119881  NM_001044740.11  NP_001038205.11 
     408623965 
    chicken
    (Gallus gallus)
    Aves SLC7A21 solute carrier family 7 (cationic amino acid transporter, more 74.64(n)
    77.76(a)
      422730  NM_001199102.1  NP_001186031.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC7A26
    solute carrier family 7 (cationic amino acid trans...
    79(a)
    1 ↔ 1
    5(108899129-108945275)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC063720.12   -- 77.04(n)    BC063720.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc7a21 solute carrier family 7 (cationic amino acid transporter, more 65.19(n)
    69.94(a)
      494041  NM_001008584.1  NP_001008584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72553
    CG55351
    cationic amino acid transporter3
    CG55351
    47(a)
    (best of 4)3
    53.94(n)1
    47.4(a)1
      71C23
    399901  NM_140762.11  NP_649019.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C50D2.21 , 3 amino acid permease3
    Protein C50D2.21
    39(a)
    (best of 3)3
    52.94(n)1
    44.78(a)1
      II(109203-111230)3
    1836501  NM_061261.31  NP_493662.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CAT41 cationic amino acid transporter 4 47.73(n)
    37.99(a)
      821176  NM_111243.7  NP_187022.5 


    ENSEMBL Gene Tree for SLC7A2 (if available)
    TreeFam Gene Tree for SLC7A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC7A2 gene
    LOC2843792  SLC7A42  SLC7A12  SLC7A142  SLC7A32  
    4 SIMAP similar genes for SLC7A2 using alignment to 1 protein entry:     CTR2_HUMAN:
    SLC7A1    SLC7A3    SLC7A4    SLC7A14

    SLC7A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2413 SNPs in SLC7A2 are shown (see all 2413)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1446807741,2
    C--15909414(+) GACAC-/TATT  
            
    CTAAA
    1 -- int10--------
    rs1124775641,2
    C--15909415(+) GACACTATT/-  
            
    TAAAT
    1 -- int11Minor allele frequency- -:0.00CSA 2
    rs611446791,2
    C--15909417(+) CACTA-/TTTA  
            
    AATGT
    1 -- int10--------
    rs1132876691,2
    C--15912297(+) AAACAAAT/-AATAA 1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs1420752781,2
    C--15912297(+) AAACA-/AATAAT
            
    AATAA
    1 -- int10--------
    rs1848896981,2
    --15912315(+) ATAATA/CATAAT 1 -- int10--------
    rs743039351,2
    C,F--15934411(+) AAAAAC/ACCCAG 1 -- int13Minor allele frequency- A:0.33NA WA CSA 6
    rs1382268291,2
    C--15934454(+) GAAGA-/ATC   
       AGATT
    ATCAG
    1 -- int10--------
    rs106583491,2
    C--15959934(+) TTGTCTATGA/
            
    TATAA
    3 -- int11Minor allele frequency- -:0.00CSA 2
    rs352522241,2
    C--15959935(+) TGTCT-/TATGA 
            
    ATAAC
    3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC7A2 (17354597 - 17428082 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for SLC7A2 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2736691CNV Deletion23290073
    esv989082CNV Deletion20482838
    esv2666848CNV Deletion23128226
    esv2736690CNV Deletion23290073
    esv2736689CNV Deletion23290073
    nsv507445CNV Insertion20534489
    nsv516180CNV Loss19592680
    esv34867CNV Loss17911159
    nsv8305CNV Loss18304495
    nsv890558CNV Loss21882294


    Human Gene Mutation Database (HGMD): SLC7A2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC7A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC7A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601872    OMIM disorders: --

    9 diseases for SLC7A2:    About MalaCards
    lysinuric protein intolerance    nonspecific interstitial pneumonia    velocardiofacial syndrome    pneumonia
    hyperparathyroidism    asthma    psoriasis    endotheliitis
    tuberculosis


    SLC7A2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SLC7A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asthma 13.4 1 12813022 (1)

    Genetic Association Database (GAD): SLC7A2
    Human Genome Epidemiology (HuGE) Navigator: SLC7A2 (1 document)

    Export disorders for SLC7A2 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 SLC7A2 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with SLC7A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2). (PubMed id 8954799)1, 2, 3, 9 Hoshide R.... Matsuda I. (1996)
    2. Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties. (PubMed id 9174363)1, 2, 9 Closs E.I.... Foerstermann U. (1997)
    3. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    4. 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)
    5. Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4. (PubMed id 11665818)1, 9 Hammermann R....Racke K. (2001)
    6. The importance of cationic amino acid transporter expression in human skin. (PubMed id 12787129)1, 9 Schnorr O....Kolb-Bachofen V. (2003)
    7. Differential topochemistry of three cationic amino aci d transporter proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain. (PubMed id 22870827)1 Jager K....Bernstein H.G. (2013)
    8. A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine tr ansport. (PubMed id 22787143)1 Jaenecke I....Closs E.I. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6542 HGNC: 11060 AceView: SLC7A2 Ensembl:ENSG00000003989 euGenes: HUgn6542
    ECgene: SLC7A2 H-InvDB: SLC7A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC7A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC7A2 gene:
    Search GeneIP for patents involving SLC7A2

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



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