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SLC7A2 Gene

protein-coding   GIFtS: 63
GCID: GC08P017354

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


(Previous symbol: ATRC2)
  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC7A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CTR2_HUMAN, P52569 (See protein sequence)
Recommended Name: Low affinity cationic amino acid transporter 2  
Size: 658 amino acids; 71673 Da
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: 

  • Ubiquitination2 at Lys461
  • Glycosylation2 at Asn157, Asn227, Asn239
  • Modification sites at PhosphoSitePlus

  • See SLC7A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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

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

    2 InterPro protein domains:
     IPR004755 Cat_AA_permease
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC7A2
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    miRNA
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    miRTarBase miRNAs that target SLC7A2:
    hsa-mir-24-3p (MIRT030407), hsa-mir-30c-2-3p (MIRT038694), hsa-mir-615-3p (MIRT040049), hsa-mir-101-3p (MIRT027260), hsa-mir-192-5p (MIRT026256), hsa-mir-423-5p (MIRT038121), hsa-mir-9-5p (MIRT021331)

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    Selected qRT-PCR Assays for microRNAs that regulate SLC7A2 (see all 45):
    hsa-miR-21* hsa-miR-15a hsa-miR-106a hsa-miR-449a hsa-miR-424 hsa-miR-133a hsa-miR-629 hsa-miR-93
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CTR2_HUMAN, P52569: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

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

    SLC7A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC7A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Amino acid transport across the plasma membrane0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC7A2
        Amino acid transport across the plasma membrane



    SLC7A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC7A2
    Interactions:

        Search GeneGlobe Interaction Network for SLC7A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC7A2 (P525693 ENSP000003811644) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA1P257863I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    OTCENSP000000390074STRING: ENSP00000039007
    CLN3ENSP000003530734STRING: ENSP00000353073
    ASLENSP000003071884STRING: ENSP00000307188
    About this table

    Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    SLC7A2 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
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    hsa-miR-21* hsa-miR-15a hsa-miR-106a hsa-miR-449a hsa-miR-424 hsa-miR-133a hsa-miR-629 hsa-miR-93
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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 

    Selected AceView cDNA sequences (see all 240):

    AA708944 AI167788 AA456311 BM023392 AA845419 CK904222 AA772114 F31413 
    U76369 AW304810 AA772024 AI167864 CB216457 CB216962 AI077977 CB156037 
    BQ270494 AA890052 CB162355 AA699705 BI087048 AA417651 CA389756 BU730691 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC7A2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 19) fully expand
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 4 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 3 entries
             Placenta-derived mesenchymal stem cells (family)
             Syncytiotrophoblast-like cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Wharton's jelly-derived stem cells
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
    SLC7A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC7A2 Protein Expression

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A2

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC7A2 gene from Selected species (see all 18)    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_001044740.21  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 65.4(n)
    69.94(a)
      494041  NM_001008584.1  NP_001008584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG72551 , 3 cationic amino acid transporter3
    CG72551
    47(a)
    (best of 4)3
    50.93(n)1
    46.85(a)1
      71C23
    396621  NM_001043142.31  NP_001036607.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C50D2.23
    F23F1.61
    amino acid permease3
    F23F1.61
    39(a)
    (best of 3)3
    52.9(n)1
    44.38(a)1
      II(109203-111230)3
    1849031  NM_061241.41  NP_493642.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CAT21 CAT2 46.82(n)
    40.99(a)
      842170  NM_179491.2  NP_849822.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g06235001 Os12g0623500 47.98(n)
    40(a)
      4352828  NM_001073841.1  NP_001067309.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC7A2 (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601872    OMIM disorders: --

    11 diseases for SLC7A2:    
    About MalaCards
    lysinuric protein intolerance    nonspecific interstitial pneumonia    pneumonia    hyperparathyroidism
    asthma    psoriasis    tuberculosis    endotheliitis
    hepatitis    thyroiditis    neuronitis


    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)
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    PubMed articles for SLC7A2 gene, integrated from 10 sources (see all 56):
    (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. (Genomics 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. (Biochemistry 1997)
    3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 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. (Genome Res. 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....RackAc K. (Amino Acids 2001)
    6. The importance of cationic amino acid transporter expression in human skin. (PubMed id 12787129)1, 9 Schnorr O....Kolb-Bachofen V. (J. Invest. Dermatol. 2003)
    7. Differential topochemistry of three cationic amino acid transporter proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain. (PubMed id 22870827)1 JAoger K....Bernstein H.G. (Amino Acids 2013)
    8. Identification of cysteine residues in human cationic amino acid transporter hCAT-2A that are targets for inhibition by N-ethylmaleimide. (PubMed id 24019517)1 Beyer S.R....Closs E.I. (J. Biol. Chem. 2013)
    9. A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. (PubMed id 22787143)1 Jaenecke I....Closs E.I. (J. Biol. Chem. 2012)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6542 HGNC: 11060 AceView: SLC7A2 Ensembl:ENSG00000003989 euGenes: HUgn6542
    ECgene: SLC7A2 H-InvDB: SLC7A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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