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

SLC5A7 Gene

protein-coding   GIFtS: 59
GCID: GC02P108602

Solute Carrier Family 5 (Sodium/Choline Cotransporter),...

(Previous names: solute carrier family 5 (choline transporter), member 7)
Alzheimer's & Parkinson's Diseases Congress
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(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 5 (Sodium/Choline Cotransporter), Member 71 2     CHT12 3
Solute Carrier Family 5 (Choline Transporter), Member 71 2     HMN7A2
Hemicholinium-3-Sensitive Choline Transporter2 3     hCHT2
Solute Carrier Family 5 Member 72 3     High Affinity Choline Transporter 12
CHT2 3     High Affinity Choline Transporter; Hemicholinium-3-Sensitive Choline
Transporter2

External Ids:    HGNC: 140251   Entrez Gene: 604822   Ensembl: ENSG000001156657   OMIM: 6087615   UniProtKB: Q9GZV33   

Export aliases for SLC5A7 gene to outside databases

Previous GC identifers: GC02P106508 GC02P107083 GC02P108207 GC02P108224 GC02P108061 GC02P107969 GC02P102202


(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 SLC5A7 Gene:
Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous
system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)-
dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in
cholinergic neurons (Apparsundaram et al., 2000 (PubMed 11027560)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SLC5A7 Gene: 
SLC5A7 (solute carrier family 5 (sodium/choline cotransporter), member 7) is a protein-coding gene. Diseases associated with SLC5A7 include anus adenocarcinoma, and tracheal cancer, and among its related super-pathways are Transmembrane transport of small molecules and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include choline transmembrane transporter activity and choline:sodium symporter activity.

UniProtKB/Swiss-Prot: SC5A7_HUMAN, Q9GZV3
Function: Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the
rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent




(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_000002.11  NT_022171.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC5A7 gene promoter:
         p53   Egr-1   ATF-2   NRSF form 1   NRSF form 2   Roaz   Egr-4   CREB   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC5A7 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC5A7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC5A7


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

Entrez Gene cytogenetic band: 2q12   Ensembl cytogenetic band:  2q12.3   HGNC cytogenetic band: 2q12

SLC5A7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC5A7 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P108602:  view genomic region     (about GC identifiers)

Start:
108,602,979 bp from pter      End:
108,630,450 bp from pter
Size:
27,472 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: SC5A7_HUMAN, Q9GZV3 (See protein sequence)
Recommended Name: High affinity choline transporter 1  
Size: 580 amino acids; 63204 Da
Subunit: Homo-oligomerizes at cell surface
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Specifically inhibited by nanomolar concentrations of hemicholinium 3
Secondary accessions: Q53TF2

Explore the universe of human proteins at neXtProt for SLC5A7: NX_Q9GZV3

Explore proteomics data for SLC5A7 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9GZV3

  • SLC5A7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC5A7 Protein Expression
    REFSEQ proteins: NP_068587.1  
    ENSEMBL proteins: 
     ENSP00000387346   ENSP00000264047   ENSP00000445351  
    Reactome Protein details: Q9GZV3
    Human Recombinant Protein Products for SLC5A7: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IDA11027560
    GO:0043025neuronal cell body IEA--

    SLC5A7 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: CHT 
    Choline transporter

    1 InterPro protein domain:
     IPR001734 Na/solute_symporter

    Graphical View of Domain Structure for InterPro Entry Q9GZV3

    ProtoNet protein and cluster: Q9GZV3

    1 Blocks protein domain: IPB001734 Na+/solute symporter

    UniProtKB/Swiss-Prot: SC5A7_HUMAN, Q9GZV3
    Similarity: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family


    SLC5A7 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: SC5A7_HUMAN, Q9GZV3
    Function: Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the
    rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005307choline:sodium symporter activity IMP12237312
    GO:0005515protein binding ----
    GO:0015220choline transmembrane transporter activity IMP11068039
    GO:0033265choline binding IEA--
         
    SLC5A7 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc5a7):
     behavior/neurological  homeostasis/metabolism  integument  mortality/aging  nervous system 
     respiratory system 

    SLC5A7 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 SLC5A7 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-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
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    4Serotonin Neurotransmitter Release Cycle
    Acetylcholine Neurotransmitter Release Cycle0.53
    5GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC5A7
        Synaptic transmission- ion currents


    1 BioSystems Pathway for SLC5A7
        Monoamine Transport

    5/8        Reactome Pathways for SLC5A7 (see all 8)
        Acetylcholine Neurotransmitter Release Cycle
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transmission across Chemical Synapses
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds

    1 PharmGKB Pathway for SLC5A7
        Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    1         Kegg Pathway  (Kegg details for SLC5A7):
        Cholinergic synapse


    SLC5A7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC5A7

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC5A7 (Q9GZV33 ENSP000002640474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAWRQ96IZ03, ENSP000003280884I2D: score=2 STRING: ENSP00000328088
    CHATENSP000003371034STRING: ENSP00000337103
    NEDD4ENSP000003455304STRING: ENSP00000345530
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0007271synaptic transmission, cholinergic IEA--
    GO:0007274neuromuscular synaptic transmission IEA--

    SLC5A7 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

    SLC5A7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC5A7 (SC5A7)

    3 HMDB Compounds for SLC5A7    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC5A7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7transportersubstrate15953352 16675138 16051538 16539662 16278103

    2 IUPHAR Ligands for SLC5A7 (CHT)    About this table 
    LigandTypeActionAffinityPubmed IDs
    hemicholinium-3
    InhibitorInhibition8.3 - 9--
    [3H]hemicholinium-3
    NoneNone8.2 - 8.4--

    3 Novoseek inferred chemical compound relationships for SLC5A7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choline 87.9 181 15090548 (7), 11483303 (7), 17005849 (5), 15953352 (4) (see all 51)
    acetylcholine 73.7 37 15953352 (2), 14594623 (2), 12406342 (1), 16862394 (1) (see all 20)
    glucose 0 3 17005849 (1), 11027560 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC5A7 / SC5A7

    (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 SLC5A7 gene: 
    NM_021815.2  

    Unigene Cluster for SLC5A7:

    Solute carrier family 5 (choline transporter), member 7
    Hs.287758  [show with all ESTs]
    Unigene Representative Sequence: AB043997
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409059 ENST00000264047(uc002tdv.3 uc010ywm.2 uc010fjj.3 uc010ywn.2)
    ENST00000540517

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    Additional mRNA sequence: 

    AB043997.1 AB084377.1 AF276871.1 AJ401466.1 AK300801.1 AK315280.1 BC111524.1 BC111525.1 

    1 DOTS entry:

    DT.40263675 

    11 AceView cDNA sequences:

    NM_021815 BU150451 AJ401466 BU149113 AB043997 AB084377 AF276871 AV709773 
    AA363955 AA364965 AA364959 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A7    About this scheme

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


    ECgene alternative splicing isoforms for SLC5A7

    (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

    SLC5A7 expression in normal human tissues (normalized intensities)      SLC5A7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC5A7 Expression
    About this image


    SLC5A7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 7
     
     Spinal Cord (Nervous System)
             motor neurons   
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns

    See SLC5A7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC5A7

    SOURCE GeneReport for Unigene cluster: Hs.287758

    UniProtKB/Swiss-Prot: SC5A7_HUMAN, Q9GZV3
    Tissue specificity: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC5A7

    (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 SLC5A7 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc5a71 , 5 solute carrier family 5 (choline transporter), member more1, 5 86.78(n)1
    92.93(a)1
      17 (28.23 cM)5
    639931  NM_022025.41  NP_071308.21 
     542735945 
    chicken
    (Gallus gallus)
    Aves SLC5A71 solute carrier family 5 (choline transporter), member more 78.26(n)
    85.47(a)
      414870  NM_001001763.1  NP_001001763.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC5A76
    solute carrier family 5 (choline transporter), mem...
    83(a)
    1 ↔ 1
    3(107712111-107737617)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-24h22.41 si:dkey-24h22.4 69.47(n)
    76.32(a)
      100005589  XM_001344561.1  XP_001344597.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77081 , 3 proline:sodium symporter3
    CG77081
    58(a)3
    58.28(n)1
    60.48(a)1
      91C13
    422451  NM_142486.21  NP_650743.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cho-11 , 3 choline transporter3
    Protein CHO-11
    53(a)3
    57.58(n)1
    56.91(a)1
      IV(13210128-13214728)3
    1782741  NM_070138.61  NP_502539.11 


    ENSEMBL Gene Tree for SLC5A7 (if available)
    TreeFam Gene Tree for SLC5A7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/597 SNPs in SLC5A7 are shown (see all 597)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1898552551,2
    --102200079(+) TGCAGC/TTTCAT 1 -- us2k10--------
    rs1821317321,2
    --102200085(+) TTCATC/TCTTAG 1 -- us2k10--------
    rs751835741,2
    F--102200205(+) CAGCCG/ACTCTG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1498795011,2
    --102200399(+) AGTCTC/TTCTTT 1 -- us2k10--------
    rs1439076651,2
    --102200467(+) GCCCAA/TGCCTG 1 -- us2k10--------
    rs3332401,2
    C,F,O,A,H--102200475(-) TAGCAA/GGGCAG 1 -- us2k126Minor allele frequency- G:0.40NA NS EA WA CSA 1660
    rs1487949291,2
    --102200514(+) ATTAGC/TATATT 1 -- us2k10--------
    rs1878450101,2
    --102200534(+) AATACA/CTCAGT 1 -- us2k10--------
    rs1162013401,2
    F--102200690(+) TCCTTA/CAAATT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1424759691,2
    C--102200796(+) GGGAAA/GTAACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC5A7 (108602979 - 108630450 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for SLC5A7 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720498CNV Deletion23290073
    dgv724e199CNV Deletion23128226
    nsv527491CNV Loss19592680
    nsv874770CNV Loss21882294
    nsv469771CNV Loss16826518
    nsv438365CNV Loss16468122
    nsv874769CNV Gain21882294
    nsv834326CNV Gain17160897
    nsv874768CNV Gain21882294
    nsv527686CNV Gain19592680


    Human Gene Mutation Database (HGMD): SLC5A7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC5A7
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC5A7

    (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: 608761    OMIM disorders: --

    16 diseases for SLC5A7:    About MalaCards
    anus adenocarcinoma    tracheal cancer    cellulitis    brain edema
    congenital hypothyroidism    hypothyroidism    parkinson's disease    dementia
    alzheimer's disease    neuronitis    glioblastoma    neuropathy
    atherosclerosis    prostate cancer    prostatitis    adenocarcinoma

    2 diseases from the University of Copenhagen DISEASES database for SLC5A7:
    Congenital hypothyroidism     Lung cancer

    SLC5A7 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for SLC5A7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 41.5 4 8624084 (1), 16524384 (1), 16722248 (1), 8040324 (1)
    dementia 16.3 1 14993474 (1)
    parkinson disease 0 1 16722248 (1)

    Genetic Association Database (GAD): SLC5A7
    Human Genome Epidemiology (HuGE) Navigator: SLC5A7 (6 documents)

    Export disorders for SLC5A7 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 SLC5A7 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with SLC5A7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. (PubMed id 11027560)1, 2, 3, 9 Apparsundaram S.... Blakely R.D. (2000)
    2. Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate. (PubMed id 12237312)1, 2, 9 Okuda T.... Gurwitz D. (2002)
    3. Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function. (PubMed id 16876130)1, 4, 9 Neumann S.A....Hariri A.R. (2006)
    4. Heart rate variability is associated with polymorphic variation in the choline transporter gene. (PubMed id 15784779)1, 4, 9 Neumann S.A....Manuck S.B. (2005)
    5. Functional characterization of the human high-affinity choline transporter. (PubMed id 11068039)1, 2, 9 Okuda T. and Haga T. (2000)
    6. Transmembrane topology and oligomeric structure of the high-affinity choline transporter. (PubMed id 23132865)1, 2 Okuda T.... Haga T. (2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    9. 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)
    10. Na+, Cl-, and pH dependence of the human choline transporter (hCHT) in Xenopus oocytes: the proton inactivation hypothesis of hCHT in synaptic vesicles. (PubMed id 17005849)1, 9 Iwamoto H....De Felice L.J. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 60482 HGNC: 14025 AceView: SLC5A7 Ensembl:ENSG00000115665 euGenes: HUgn60482
    ECgene: SLC5A7 Kegg: 60482 H-InvDB: SLC5A7

    (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 SLC5A7 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 SLC5A7 gene:
    Search GeneIP for patents involving SLC5A7

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



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    About This Section

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