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

SLC6A19 Gene

protein-coding   GIFtS: 55
GCID: GC05P001257

solute carrier family 6 (neutral amino acid transporter),...
 Explore 16 diseases affiliated with
SLC6A19 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC6A19    

Aliases
for SLC6A19 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 6 (Neutral Amino Acid Transporter), Member 191 2     Sodium-Dependent Amino Acid Transporter System B02
Solute Carrier Family 6 Member 192 3     Sodium-Dependent Neutral Amino Acid Transporter B(0)AT12
System B(0) Neutral Amino Acid Transporter AT12 3     Solute Carrier Family 6 (Neurotransmitter Transporter), Member 192
B0AT12 3     System B0 Neutral Amino Acid Transporter2
HND2 5     

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


Summaries
for SLC6A19 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 SLC6A19:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
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 plasmid: SLC6A19 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

Proteins
for SLC6A19 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q695T7

    • SLC6A19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001003841.1  
    ENSEMBL proteins: 
     ENSP00000425701   ENSP00000305302  
    Reactome Protein details: Q695T7
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for SLC6A19

    Protein Domains /
    Families
    for SLC6A19 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC6A19 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SLC6A19 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: 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)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0015175neutral amino acid transmembrane transporter activity IEA--


    SLC6A19 for ontologies           About GeneDecksing


    Animal Models:
         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


    Pathways & Interactions
    for SLC6A19 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  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
    		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 transporters1.00
    		Na+/Cl- dependent neurotransmitter transporters0.63
    4Mineral absorption
    		Mineral absorption1.00
    5Protein digestion and absorption
    		Protein digestion and absorption1.00

    Pathway sources
    See GeneCards unified pathways
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0007584response to nutrient IEA--
    GO:0015804neutral amino acid transport ----
    GO:0055085transmembrane transport TAS--


    SLC6A19 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC6A19 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

    SLC6A19 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC6A19

    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 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 

    Transcripts
    for SLC6A19 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 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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC6A19:
    hsa-miR-377
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 AY596807 BM855078 BM790739 BE501399 AW771585 BF593271 
    AI373880 NM_001003841 AW772295 AX747276 AK123779 AW195379 AI636105 AW294284 
    AI822029 AW195364 BX096242 AI767635 AK000687 AI927977 AI636287 AI792223 

    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

    Expression
    for SLC6A19 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

    SLC6A19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    SLC6A19 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
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Endoderm progenitor-like cells (Generation and expan...)

    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
    for SLC6A19 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 common ancestor of animals.

    Orthologs for SLC6A19 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 75(a)
    		 1 ↔ 1
    		 4(68057775-68086526)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufd58f102 wufd58f10 76.61(n)   326030  BC059804.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG430666
    		 --
    		 35(a)
    		 1 → many
    		 2R(14402081-14413944)
    worm
    (Caenorhabditis elegans)    		 Secernentea snf-66
    snf-126
    		 Sodium-dependent acetylcholine transporter
    Sodium:Neurotransmitter symporter Family family me...
    		 22(a)
    14(a)
    		 possible ortholog
    possible ortholog
    		 III(1520216-1532760)
    X(9029423-9033904)


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

    Paralogs
    for SLC6A19 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A19 gene
    SLC6A152  SLC6A202  SLC6A172  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



    Genomic Variants
    for SLC6A19 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

    10/729 NCBI SNPs in SLC6A19 are shown (see all 729)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214343461,2
    		C,F,pathogenic3052193(+) CTGTGG/AACTAC 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5869
    rs1995680701,2
    		C--1181385(-) GACAGA/GGAGAG 1 -- us2k10--------
    rs725441091,2
    		F--1182679(+) TGGACT/AGGGGT 1 -- us2k11Minor allele frequency- A:0.01--490
    rs100643541,2
    		C,H--1182975(+) AGTCCC/TTCCGC 1 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs725441071,2
    		F--1182978(+) CCCTCC/TGCAGA 1 -- us2k11Minor allele frequency- T:0.00--522
    rs781995551,2
    		--1183983(+) TGCCCA/GGTGGT 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1122259881,2
    		--1183987(+) CAGTGC/GTCCTG 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs623312781,2
    		C,--1184070(+) GGCTTG/CGCGAA 1 -- int12Minor allele frequency- C:0.04NA 122
    rs107067721,2
    		C,--1184181(+) GGGGG-/GCCGTG 1 -- int12Minor allele frequency- G:0.00NA CSA 4
    rs285281671,2
    		C,--1184188(+) GGGGCC/TGTGAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC6A19 (1201710 - 1225232 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC6A19
         1 CNV: 53517
    Human Gene Mutation Database (HGMD): SLC6A19

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    Disorders / Diseases
    for SLC6A19 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
    SLC6A19 for disorders           About GeneDecksing

    OMIM gene information: 608893   
    OMIM disorders: 234500  242600  138500  
    UniProtKB/Swiss-Prot: S6A19_HUMAN, Q695T7
  • Defects in SLC6A19 are a cause of Hartnup disorder (HND) [MIM:234500]. HND is an 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
  • Defects in SLC6A19 may be a cause of hyperglycinuria (HG) [MIM:138500]. It is a condition characterized by
    • excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. Note=SLC6A19
    deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be
    responsible for hyperglycinuria
  • Defects in SLC6A19 may be a cause of iminoglycinuria (IG) [MIM:242600]. It is 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=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

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

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SLC6A19 (1 document)

    Export disorders for SLC6A19 gene to outside databases

    Publications
    for SLC6A19 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 SLC6A19 gene, integrated from 9 sources (see all 34):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (PubMed id 15286787)1, 2 Kleta R....Koizumi A. (2004)
    4. 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)
    5. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (PubMed id 20399395)1, 9 Cheon C.K....Yoo H.W. (2010)
    6. Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells. (PubMed id 19322909)1, 9 Mitsuoka K....Tamai I. (2009)
    7. 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)
    8. Stimulation of the amino acid transporter SLC6A19 by JAK2. (PubMed id 21964291)1 Bhavsar S.K....Lang F. (2011)
    9. Loss of solute carriers in T cell-mediated rejection in mouse and human kidneys: an active epithelial injury-repair response. (PubMed id 20883558)1 Einecke G....Halloran P.F. (2010)
    10. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (PubMed id 19033659)2 Broer S....Rasko J.E. (2008)

    External Searches for SLC6A19 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing SLC6A19 gene

    (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

    Other Databases showing SLC6A19 gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for SLC6A19 gene

    (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

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