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

SLC6A5 Gene

protein-coding   GIFtS: 63
GCID: GC11P020620

Solute Carrier Family 6 (Neurotransmitter Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter, glycine),...)
(Previous symbol: NET1)
Microbiology & Infectious Diseases Congress
  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 (Neurotransmitter Transporter), Member 51 2     HKPX32
NET11 2 3     Sodium- And Chloride-Dependent Glycine Transporter 22
GLYT22 3 5     GlyT-23
Solute Carrier Family 6 (Neurotransmitter Transporter, Glycine), Member 51 2     GlyT23
Glycine Transporter 21 2     Solute Carrier Family 6 Member 53
GLYT-22     

External Ids:    HGNC: 110511   Entrez Gene: 91522   Ensembl: ENSG000001659707   OMIM: 6041595   UniProtKB: Q9Y3453   

Export aliases for SLC6A5 gene to outside databases

Previous GC identifers: GC11P021759 GC11P021422 GC11P020660 GC11P020585 GC11P020574 GC11P020577 GC11P020304


(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 SLC6A5 Gene:
This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane
glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission.
This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at
glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder
characterized by exaggerated startle responses and neonatal apnea. (provided by RefSeq, Oct 2009)

GeneCards Summary for SLC6A5 Gene: 
SLC6A5 (solute carrier family 6 (neurotransmitter transporter), member 5) is a protein-coding gene. Diseases associated with SLC6A5 include slc6a5-related hyperekplexia, and hyperekplexia, and among its related super-pathways are Transmembrane transport of small molecules and Na+/Cl- dependent neurotransmitter transporters. GO annotations related to this gene include neurotransmitter:sodium symporter activity and glycine:sodium symporter activity. An important paralog of this gene is SLC6A6.

UniProtKB/Swiss-Prot: SC6A5_HUMAN, Q9Y345
Function: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic
terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic
synapses

Gene Wiki entry for SLC6A5 (Glycine transporter 2) 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_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A5 gene promoter:
         E2F-4   E2F-3a   E2F-5   NRSF form 1   E2F-2   NRSF form 2   Evi-1   E2F   E2F-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A5


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

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

SLC6A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P020620:  view genomic region     (about GC identifiers)

Start:
20,620,946 bp from pter      End:
20,680,831 bp from pter
Size:
59,886 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: SC6A5_HUMAN, Q9Y345 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent glycine transporter 2  
Size: 797 amino acids; 87434 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O95288 Q4VAM7 Q9BX77

Explore the universe of human proteins at neXtProt for SLC6A5: NX_Q9Y345

Explore proteomics data for SLC6A5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y345

  • SLC6A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A5 Protein Expression
    REFSEQ proteins: NP_004202.2  
    ENSEMBL proteins: 
     ENSP00000434364   ENSP00000298923  
    Reactome Protein details: Q9Y345
    Human Recombinant Protein Products for SLC6A5: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    SLC6A5 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: GlyT2 
    Glycine transporter subfamily

    1 InterPro protein domain:
     IPR000175 Na/ntran_symport

    Graphical View of Domain Structure for InterPro Entry Q9Y345

    ProtoNet protein and cluster: Q9Y345

    UniProtKB/Swiss-Prot: SC6A5_HUMAN, Q9Y345
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily


    SLC6A5 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: SC6A5_HUMAN, Q9Y345
    Function: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic
    terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic
    synapses

         Genatlas biochemistry entry for SLC6A5:
    solute carrier family 6,member A5,glycine transporter,expressed in brain and spinal cord

         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:0015375glycine:sodium symporter activity TAS9845349
         
    SLC6A5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC6A5:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc6a5):
     behavior/neurological  growth/size  mortality/aging  muscle  nervous system 

    SLC6A5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc6a5tm1Betz for SLC6A5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC6A5 
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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 SLC6A5 About                                                                                                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
    2Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC6A5
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Na+/Cl- dependent neurotransmitter transporters
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Amine compound SLC transporters



    SLC6A5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC6A5 (Q9Y3453 ENSP000002989234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDCBPO005603, ENSP000002601304I2D: score=2 STRING: ENSP00000260130
    STX1AQ166233, ENSP000002228124I2D: score=3 STRING: ENSP00000222812
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9845349
    GO:0006836neurotransmitter transport ----
    GO:0007268synaptic transmission TAS9845349
    GO:0055085transmembrane transport TAS--

    SLC6A5 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

    SLC6A5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC6A5 (SC6A5)

    2 HMDB Compounds for SLC6A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glycine2-Aminoacetate (see all 15)56-40-6--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC6A5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--16884688

    3 IUPHAR Ligands for SLC6A5 (GlyT2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Org 25543
    InhibitorInhibition7.7--
    ALX 1393
    InhibitorInhibition7.7--
    ALX 1405
    InhibitorInhibition7.7--

    3 Novoseek inferred chemical compound relationships for SLC6A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcosine 89.5 5 16143353 (1), 20173309 (1), 10381548 (1), 18621031 (1)
    nmda 50.8 1 11319765 (1)
    gaba 39.4 1 18815261 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A5 / SC6A5

    (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 SLC6A5 gene: 
    NM_004211.3  

    Unigene Cluster for SLC6A5:

    Solute carrier family 6 (neurotransmitter transporter, glycine), member 5
    Hs.136557  [show with all ESTs]
    Unigene Representative Sequence: NM_004211
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525748(uc001mqd.3 uc009yic.3) ENST00000298923 ENST00000528440

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF085412.1 AF117999.1 AF142501.1 AF352733.1 BC096319.3 BC096320.3 BC096321.1 BC096322.3 

    1 DOTS entry:

    DT.40299983 

    10 AceView cDNA sequences:

    BX095910 AA625644 BM559743 AF142501 NM_004211 AF085412 AF117999 BV173379 
    AF352733 AI209124 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                                                                                            
    SP2:                    -                                                                                       


    ECgene alternative splicing isoforms for SLC6A5

    (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

    SLC6A5 expression in normal human tissues (normalized intensities)      SLC6A5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC6A5 Expression
    About this image


    SLC6A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             Midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Heart (Cardiovascular System)
             heart/ventricle   
     
     Eye (Sensory Organs)
             corneal epithelial basal cells   

    See SLC6A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A5

    SOURCE GeneReport for Unigene cluster: Hs.136557

    UniProtKB/Swiss-Prot: SC6A5_HUMAN, Q9Y345
    Tissue specificity: Expressed in medulla, and to a lesser extent in spinal cord and cerebellum

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A5

    (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 SLC6A5 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a51 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 88.82(n)1
    94.35(a)1
      7 (31.71 cM)5
    1042451  NM_001146013.11  NP_001139485.11 
     499102995 
    chicken
    (Gallus gallus)
    Aves SLC6A51 solute carrier family 6 (neurotransmitter transporter, more 76.66(n)
    81.86(a)
      422974  XM_420906.2  XP_420906.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A56
    Transporter
    81(a)
    1 ↔ 1
    1(57161665-57258456)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001491621 sodium- and chloride-dependent glycine transporter more 68.96(n)
    73.41(a)
      100149162  XM_001923509.3  XP_001923544.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55491 , 3 glycine:sodium symporter3
    CG55491
    48(a)
    (best of 8)3
    58.53(n)1
    51.5(a)1
      377721  NM_137992.21  NP_611836.21 


    ENSEMBL Gene Tree for SLC6A5 (if available)
    TreeFam Gene Tree for SLC6A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A5 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A82  SLC6A142  SLC6A32  SLC6A12  SLC6A42  
    SLC6A132  SLC6A72  SLC6A22  SLC6A92  
    18/20 SIMAP similar genes for SLC6A5 using alignment to 5 protein entries:     SC6A5_HUMAN (see all proteins) (see all similar genes):
    DAT1    5HTT    SLC6A14    SLC6A9    SLC6A1    SLC6A2
    SLC6A7    SLC6A11    SLC6A3    SLC6A13    SLC6A6    SLC6A4
    SLC6A12    SLC6A8    SLC6A15    SLC6A18    SLC6A19    SLC6A20

    SLC6A5 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

    10/1510 SNPs in SLC6A5 are shown (see all 1510)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0441684
    Hyperekplexia 3 (HKPX3)4--see VAR_0441682 L V mis40--------
    VAR_0441714
    Hyperekplexia 3 (HKPX3)4--see VAR_0441712 W C mis40--------
    VAR_0441724
    Hyperekplexia 3 (HKPX3)4--see VAR_0441722 Y C mis40--------
    VAR_0441694
    Hyperekplexia 3 (HKPX3)4--see VAR_0441692 T M mis40--------
    VAR_0441754
    Hyperekplexia 3 (HKPX3)4--see VAR_0441752 S R mis40--------
    VAR_0441744
    Hyperekplexia 3 (HKPX3)4--see VAR_0441742 N S mis40--------
    VAR_0361604
    A breast cancer sample4--see VAR_0361602 V E mis40--------
    rs1219084961,2
    Cpathogenic120554080(+) CTGTAC/GTACCC 2 L V mis10--------
    rs1219084931,2
    Cpathogenic120564245(+) AGGTAA/CTTTGT 2 * Y stg10--------
    rs1219084981,2
    Cpathogenic120573210(+) CTTCAC/TGGCCA 2 T M mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for SLC6A5 (20620946 - 20680831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC6A5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509395CNV Insertion20534489
    nsv39323CNV Loss16902084
    nsv7703CNV Loss18451855
    nsv467720CNV Gain19166990
    nsv523326CNV Gain19592680
    nsv469939CNV Gain18288195


    Human Gene Mutation Database (HGMD): SLC6A5

    Locus Specific Mutation Databases (LSDB): SLC6A5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC6A5

    (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: 604159   
    OMIM disorders: 149400  
    UniProtKB/Swiss-Prot: SC6A5_HUMAN, Q9Y345
  • Hyperekplexia 3 (HKPX3) [MIM:614618]: A neurologic disorder characterized by neonatal hypertonia, an
    exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes.
    Notably, in some cases, symptoms resolved in the first year of life. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 9 diseases for SLC6A5:    About MalaCards
    slc6a5-related hyperekplexia    hyperekplexia    gnathodiaphyseal dysplasia    alcohol dependence
    hyperparathyroidism    schizophrenia    alcoholism    pneumonia
    neuronitis


    SLC6A5 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SLC6A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperekplexia 89.7 16 16884688 (3), 16751771 (2), 14622583 (2), 18946534 (1) (see all 5)
    schizophrenia 12.8 6 18638388 (5)

    GeneTests: SLC6A5
    GeneReviews: SLC6A5
    Genetic Association Database (GAD): SLC6A5
    Human Genome Epidemiology (HuGE) Navigator: SLC6A5 (94 documents)

    Export disorders for SLC6A5 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 SLC6A5 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with SLC6A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome. (PubMed id 9845349)1, 2, 3, 9 Morrow J.A....Hill D.R. (1998)
    2. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. (PubMed id 16751771)1, 2, 9 Rees M.I....Harvey R.J. (2006)
    3. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (PubMed id 16884688)1, 7, 9 Eulenburg V....Betz H. (2006)
    4. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. (PubMed id 18638388)1, 4, 9 Deng X....Fukumaki Y. (2008)
    5. Characterization of multiple forms of the human glycine transporter type-2. (PubMed id 10381548)1, 2, 9 Gallagher M.J.... Brunden K.R. (1999)
    6. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    7. No association of alcohol dependence with SLC6A5 and SLC6A9 glycine transporter polymorphisms. (PubMed id 19650813)1, 4 Koller G....Preuss U.W. (2009)
    8. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    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. Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter. (PubMed id 10606742)1, 2 Evans J....Gloger I. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9152 HGNC: 11051 AceView: SLC6A5 Ensembl:ENSG00000165970 euGenes: HUgn9152
    ECgene: SLC6A5 H-InvDB: SLC6A5

    (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 SLC6A5 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 SLC6A5 gene:
    Search GeneIP for patents involving SLC6A5

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



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