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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)
  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 5 (Sodium/Choline Cotransporter), Member 71 2     CHT2 3
CHT12 3 5     HMN7A2 5
Solute Carrier Family 5 (Choline Transporter), Member 71 2     hCHT2
Hemicholinium-3-Sensitive Choline Transporter2 3     High Affinity Choline Transporter 12
Solute Carrier Family 5 Member 72 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 neuronopathy, distal hereditary motor, type viia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for SLC5A7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Phosphorylated (By similarity)1
  • Glycosylation2 at Asn301
  • Modification sites at PhosphoSitePlus

  • See SLC5A7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068587.1  
    ENSEMBL proteins: 
     ENSP00000387346   ENSP00000264047   ENSP00000445351  
    Reactome Protein details: Q9GZV3

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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: 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,
    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: 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:    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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC5A7
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    miRNA
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    (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
    SC5A7_HUMAN, Q9GZV3: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    SLC5A7 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 SLC5A7 About   (see all 7)  
    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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    Acetylcholine Neurotransmitter Release Cycle0.00
    4Circadian entrainment
    Cholinergic synapse0.37
    5Synaptic transmission ion currents
    Synaptic transmission ion currents

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC5A7
        Monoamine Transport

    2 Reactome Pathways for SLC5A7
        Acetylcholine Neurotransmitter Release Cycle
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC5A7
    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (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, 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
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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)



    SLC5A7 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 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:

    AB043997 BU149113 AB084377 AJ401466 AF276871 NM_021815 BU150451 AV709773 
    AA363955 AA364959 AA364965 

    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™, 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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    SLC5A7 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Motor Neurons (Nervous System)    fully expand to see all 2 entries
             Precursor lateral motor column neuron EBs
             motor neurons   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Precursor lateral motor column neuron EBs
             motor neurons   
     
     Neurons
             Precursor lateral motor column neuron EBs
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 7
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
    SLC5A7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC5A7 Protein Expression

    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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    (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 animals.

    Orthologs for SLC5A7 gene from Selected species (see all 16)    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 (sodium/choline cotranspor...
    83(a)
    1 ↔ 1
    3(107712111-107737617)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc5a71 solute carrier family 5 (choline transporter), member more 73.01(n)
    81.14(a)
      100490609  XM_002937663.2  XP_002937709.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-24h22.41 si:dkey-24h22.4 69.04(n)
    75.56(a)
      100005589  XM_005159931.1  XP_005159988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77081 , 3 proline:sodium symporter3
    CG77081
    58(a)3
    57.95(n)1
    60.28(a)1
      91C13
    422451  NM_142486.21  NP_650743.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cho-11 , 3 choline transporter3
    cho-11
    53(a)3
    56.23(n)1
    54.44(a)1
      IV(13210128-13214728)3
    1782741  NM_070138.71  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)
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      --

    (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 SLC5A7 (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608761   
    OMIM disorders: 158580  
    UniProtKB/Swiss-Prot: SC5A7_HUMAN, Q9GZV3
  • Neuronopathy, distal hereditary motor, 7A (HMN7A) [MIM:158580]: A neuromuscular disorder. Distal
    hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective
    degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior
    horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without
    clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and
    peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower
    limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive
    distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and
    hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with
    vocal cord paresis due to involvement of the tenth cranial nerve. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for SLC5A7:    
    About MalaCards
    anus adenocarcinoma    neuronopathy, distal hereditary motor, type viia    cellulitis    brain edema
    congenital hypothyroidism    hypothyroidism    dementia    parkinson's disease
    alzheimer's disease    neuropathy    neuronitis    atherosclerosis
    adenocarcinoma    prostate cancer    prostatitis    lung cancer
    malaria

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

    SLC5A7 for disorders           About GeneDecksing

    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)
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    PubMed articles for SLC5A7 gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 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. (Biol. Psychiatry 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. (Psychosom Med 2005)
    5. Functional characterization of the human high-affinity choline transporter. (PubMed id 11068039)1, 2, 9 Okuda T. and Haga T. (FEBS Lett. 2000)
    6. Defective presynaptic choline transport underlies hereditary motor neuropathy. (PubMed id 23141292)1, 2 Barwick K.E....Crosby A.H. (Am. J. Hum. Genet. 2012)
    7. Transmembrane topology and oligomeric structure of the high-affinity choline transporter. (PubMed id 23132865)1, 2 Okuda T.... Haga T. (J. Biol. Chem. 2012)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. 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)

    (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: 60482 HGNC: 14025 AceView: SLC5A7 Ensembl:ENSG00000115665 euGenes: HUgn60482
    ECgene: SLC5A7 Kegg: 60482 H-InvDB: SLC5A7

    (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 SLC5A7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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