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

SLC6A19 Gene

protein-coding   GIFtS: 57
GCID: GC05P001257

Solute Carrier Family 6 (Neutral Amino Acid Transporter),...

  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 6 (Neutral Amino Acid Transporter), Member 191 2     Hartnup Disease1
Solute Carrier Family 6 Member 192 3     Sodium-Dependent Amino Acid Transporter System B02
System B(0) Neutral Amino Acid Transporter AT12 3     Sodium-Dependent Neutral Amino Acid Transporter B(0)AT12
B0AT12 3     Solute Carrier Family 6 (Neurotransmitter Transporter), Member 192
HND2 5     System B0 Neutral Amino Acid Transporter2

External Ids:    HGNC: 279601   Entrez Gene: 3400242   Ensembl: ENSG000001743587   OMIM: 6088935   UniProtKB: Q695T73   

Export aliases for SLC6A19 gene to outside databases

Previous GC identifer: GC05P001256


(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 SLC6A19 Gene:
This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the
apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. (provided by RefSeq, Jul
2008)

GeneCards Summary for SLC6A19 Gene: 
SLC6A19 (solute carrier family 6 (neutral amino acid transporter), member 19) is a protein-coding gene. Diseases associated with SLC6A19 include hartnup disease, and aminoaciduria, 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 neutral amino acid transmembrane transporter activity and neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A15.

UniProtKB/Swiss-Prot: S6A19_HUMAN, Q695T7
Function: Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of
epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large
neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium-dependent. In contrast
to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By
similarity)

Gene Wiki entry for SLC6A19 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_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A19 gene promoter:
         Egr-3   AML1a   p53   NRSF form 1   CUTL1   NF-kappaB   NRSF form 2   Max   Ik-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A19 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A19


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15

SLC6A19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A19 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P001257:  view genomic region     (about GC identifiers)

Start:
1,201,710 bp from pter      End:
1,225,232 bp from pter
Size:
23,523 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: S6A19_HUMAN, Q695T7 (See protein sequence)
Recommended Name: Sodium-dependent neutral amino acid transporter B(0)AT1  
Size: 634 amino acids; 71110 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: A8K446

Explore the universe of human proteins at neXtProt for SLC6A19: NX_Q695T7

Explore proteomics data for SLC6A19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q695T7

  • SLC6A19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A19 Protein Expression
    REFSEQ proteins: NP_001003841.1  
    ENSEMBL proteins: 
     ENSP00000425701   ENSP00000305302  
    Reactome Protein details: Q695T7
    Human Recombinant Protein Products for SLC6A19: 
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    Cloud-Clone Corp. Proteins for SLC6A19 

    Gene Ontology (GO): 3 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 IEA--
    GO:0016021integral to membrane ----

    SLC6A19 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: B0AT1 
    Neutral amino acid transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002438 Na/ntran_symport_orphan

    Graphical View of Domain Structure for InterPro Entry Q695T7

    ProtoNet protein and cluster: Q695T7

    1 Blocks protein domain: IPB002438 Orphan neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: S6A19_HUMAN, Q695T7
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily


    SLC6A19 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: S6A19_HUMAN, Q695T7
    Function: Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of
    epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large
    neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium-dependent. In contrast
    to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By
    similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0015175neutral amino acid transmembrane transporter activity IEA--
         
    SLC6A19 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc6a19):
     adipose tissue  digestive/alimentary  growth/size  homeostasis/metabolism  renal/urinary system 

    SLC6A19 for phenotypes           About GeneDecksing

    Animal Models:
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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 SLC6A19 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
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    4Protein digestion and absorption
    Protein digestion and absorption
    5Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for SLC6A19 (see all 8)
        Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane
    Amine compound SLC transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules


    2         Kegg Pathways  (Kegg details for SLC6A19):
        Protein digestion and absorption
    Mineral absorption


    SLC6A19 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC6A19

    1 Interacting protein for SLC6A19 (Q695T73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTTPP551573I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006836neurotransmitter transport ----
    GO:0006865amino acid transport TAS--
    GO:0007584response to nutrient IEA--
    GO:0015804neutral amino acid transport ----

    SLC6A19 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

    SLC6A19 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC6A19 (S6A19)

    2 HMDB Compounds for SLC6A19    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    SodiumSodium (see all 2)7440-23-5--

    1 Novoseek inferred chemical compound relationship for SLC6A19 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 30.8 4 14668939 (1), 14680765 (1), 18341218 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A19 / S6A19

    (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 SLC6A19 gene: 
    NM_001003841.2  

    Unigene Cluster for SLC6A19:

    Solute carrier family 6 (neutral amino acid transporter), member 19
    Hs.481478  [show with all ESTs]
    Unigene Representative Sequence: NM_001003841
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515652 ENST00000304460(uc003jbw.4)
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    Additional mRNA sequence: 

    AK000687.1 AK091954.1 AK096054.1 AK123779.1 AK290811.1 AY591756.1 AY596807.1 

    4 DOTS entries:

    DT.40283852  DT.303896  DT.120855147  DT.91804805 

    24/67 AceView cDNA sequences (see all 67):

    AY591756 BM854543 AW771585 NM_001003841 BE501399 BM790739 BM855078 BF593271 
    AY596807 AI373880 AI927977 AW195364 BM791476 AI792223 AA341494 AI494057 
    AI719089 AI636287 AK123779 AI431716 BE326600 AI636105 AK091954 AI928004 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A19    About this scheme

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


    ECgene alternative splicing isoforms for SLC6A19

    (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

    SLC6A19 expression in normal human tissues (normalized intensities)      SLC6A19 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC6A19 Expression
    About this image


    SLC6A19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule
     
     Gut Tube (Gastrointestinal Tract)
             Endoderm progenitor-like cells ( Generation and expansion of endodermal progenitor...

    See SLC6A19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A19

    SOURCE GeneReport for Unigene cluster: Hs.481478

    UniProtKB/Swiss-Prot: S6A19_HUMAN, Q695T7
    Tissue specificity: Robust expression in kidney and small intestine, with minimal expression in pancreas. Also
    expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain,
    cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung

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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 animals.

    Orthologs for SLC6A19 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a191 , 5 solute carrier family 6 (neurotransmitter transporter), more1, 5 83.83(n)1
    86.89(a)1
      13 (40.14 cM)5
    743381  NM_028878.31  NP_083154.11 
     736797455 
    chicken
    (Gallus gallus)
    Aves SLC6A191 solute carrier family 6 (neutral amino acid transporter), more 71.56(n)
    78.99(a)
      420971  XM_419056.3  XP_419056.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A196
    Transporter
    75(a)
    1 ↔ 1
    4(68057357-68086836)
    zebrafish
    (Danio rerio)
    Actinopterygii wufd58f102 wufd58f10 76.61(n)   326030  BC059804.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG430666
    CG108046
    --
    36(a)
    35(a)
    many ↔ many
    many ↔ many
    2R(14402081-14413944)
    X(3370722-3376355)


    ENSEMBL Gene Tree for SLC6A19 (if available)
    TreeFam Gene Tree for SLC6A19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A19 gene
    SLC6A152  SLC6A172  SLC6A202  SLC6A182  SLC6A162  
    18/21 SIMAP similar genes for SLC6A19 using alignment to 3 protein entries:     S6A19_HUMAN (see all proteins) (see all similar genes):
    DAT1    SLC6A20    SLC6A18    SLC6A15    5HTT    SLC6A17
    DKFZp761I0921    SLC6A11    SLC6A1    SLC6A7    SLC6A16    SLC6A12
    SLC6A13    SLC6A3    SLC6A2    SLC6A9    SLC6A4    SLC6A5

    SLC6A19 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

    10/987 SNPs in SLC6A19 are shown (see all 987)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0233194
    Hartnup disorder (HND)4--see VAR_0233192 E K mis40--------
    VAR_0233174
    Hartnup disorder (HND)4--see VAR_0233172 L P mis40--------
    VAR_0233144
    Hartnup disorder (HND)4--see VAR_0233142 R C mis40--------
    rs1214343461,2,4
    C,FHartnup disorder (HND)4 pathogenic13052193(+) CTGTGG/AACTAC 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5869
    VAR_0233164
    ----see VAR_0233162 R Q mis40--------
    rs1923844831,2
    C--1181130(+) TCTCTA/GTCTCT 1 -- us2k10--------
    rs1114771511,2
    C--1181188(+) TGCCTC/TTCTCT 1 -- us2k10--------
    rs1482284391,2
    C--1181256(+) TCCTCA/GTCTCT 1 -- us2k10--------
    rs1995680701,2
    C--1181385(-) GACAGA/GGAGAG 1 -- us2k10--------
    rs1412382291,2
    --1181577(+) CTCAGC/TGAATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC6A19 (1201710 - 1225232 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for SLC6A19 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2729444CNV Deletion23290073
    esv2729443CNV Deletion23290073
    esv2729442CNV Deletion23290073
    esv2729441CNV Deletion23290073
    esv2729445CNV Deletion23290073
    nsv509044CNV Insertion20534489
    nsv881346CNV Loss21882294
    dgv5913n71CNV Loss21882294
    dgv5914n71CNV Loss21882294
    nsv527182CNV Loss19592680


    Human Gene Mutation Database (HGMD): SLC6A19
    SABiosciences Cancer Mutation PCR Assays
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    (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: 608893   
    OMIM disorders: 234500  242600  138500  
    UniProtKB/Swiss-Prot: S6A19_HUMAN, Q695T7
  • Hartnup disorder (HND) [MIM:234500]: Autosomal recessive abnormality of renal and gastrointestinal
    neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by
    increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup
    aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia
    and other neurological or psychiatric features. Although the definition of HND was originally based on clinical
    and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a
    consistent pathognomonic neutral hyperaminoaciduria. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some
    cases it is associated with renal colic and renal oxalate stones. Note=The disease may be caused by mutations
    affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or
    partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria
  • Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids
    (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=The disease
    may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with
    haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for
    iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some
    families

  • 14 diseases for SLC6A19:    About MalaCards
    hartnup disease    aminoaciduria    iminoglycinuria, digenic    pellagra
    iminoglycinuria    hyperglycinuria    placental choriocarcinoma    cystinuria
    choriocarcinoma    cerebellar ataxia    ataxia    hypertension
    breast cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for SLC6A19:
    Hartnup disease     Pellagra

    SLC6A19 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SLC6A19 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aminoaciduria 88.1 2 17555458 (1), 20511718 (1)

    Genetic Association Database (GAD): SLC6A19
    Human Genome Epidemiology (HuGE) Navigator: SLC6A19 (1 document)

    Export disorders for SLC6A19 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 SLC6A19 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with SLC6A19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (PubMed id 15286788)1, 2, 9 Seow H.F.... Rasko J.E.J. (2004)
    2. Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension. (PubMed id 18671945)1, 4 Seol S.Y....Leem S.H. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (PubMed id 15286787)1, 2 Kleta R....Koizumi A. (2004)
    5. A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. (PubMed id 19335424)1, 9 Zheng Y....Jiang W. (2009)
    6. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (PubMed id 20399395)1, 9 Cheon C.K....Yoo H.W. (2010)
    7. Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells. (PubMed id 19322909)1, 9 Mitsuoka K....Tamai I. (2009)
    8. Persistence of the common Hartnup disease D173N allele in populations of European origin. (PubMed id 17555458)1, 9 Azmanov D.N....Cavanaugh J.A. (2007)
    9. Up-regulation of amino acid transporter SLC6A19 activi ty and surface protein abundance by PKB/Akt and PIKfyve. (PubMed id 23234856)1 Bogatikov E....Lang F. (2012)
    10. Stimulation of the amino acid transporter SLC6A19 by JAK2. (PubMed id 21964291)1 Bhavsar S.K....Lang F. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      (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: 340024 HGNC: 27960 AceView: SLC6A19 Ensembl:ENSG00000174358 euGenes: HUgn340024
    ECgene: SLC6A19 Kegg: 340024 H-InvDB: SLC6A19

    (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 SLC6A19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A19

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC6A19 gene:
    Search GeneIP for patents involving SLC6A19

    GeneCards and IP:
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