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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, glycine),...


(Previous symbol: NET1)
 Explore 10 diseases affiliated with
SLC6A5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC6A5    

Aliases
for SLC6A5 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 (Neurotransmitter Transporter, Glycine), Member
51 2
     Sodium- And Chloride-Dependent Glycine Transporter 22
GLYT21 2 3 5     GlyT-23
NET11 2 3     GlyT23
GLYT-22     Solute Carrier Family 6 Member 53
HKPX32     

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


Summaries
for SLC6A5 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 SLC6A5:
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)

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)


Genomic Views
for SLC6A5 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_000011.9  NC_018922.1  NT_009237.18  
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 plasmid: SLC6A5 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

Proteins
for SLC6A5 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y345

    • SLC6A5 Protein expression data from MOPED and PaxDb:    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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    Novus Biologicals SLC6A5 Protein
    Novus Biologicals SLC6A5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC6A5

    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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    Uscn ELISAs and CLIAs for SLC6A5

    Protein Domains /
    Families
    for SLC6A5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC6A5 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for SLC6A5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0015187glycine transmembrane transporter activity ----
    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:
         Mouse knock-out Slc6a5tm1Betz for SLC6A5
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC6A5 

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for SLC6A5 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
    1SLC-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
    2Amine compound SLC transporters
    		Amine compound SLC transporters1.00
    		Na+/Cl- dependent neurotransmitter transporters0.63

    Pathway sources
    See GeneCards unified pathways
    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:0007268synaptic transmission TAS9845349
    GO:0015816glycine transport ----
    GO:0055085transmembrane transport TAS--

    SLC6A5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC6A5 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

    SLC6A5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC6A5

    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 Novoseek 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 

    Transcripts
    for SLC6A5 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, Sirion Biotech, 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 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


    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: SLC6A5
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    Clone
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    Primer
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    Additional cDNA 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:

    BM559743 BX095910 AA625644 AF142501 BV173379 NM_004211 AF352733 AF085412 
    AF117999 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

    Expression
    for SLC6A5 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

    SLC6A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    SLC6A5 Expression
    About this image

    SLC6A5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for SLC6A5 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 SLC6A5 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 1(57161665-57254637)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea snf-33 sodium/chloride-dependent GABA transporter 37(a)
    (best of 6)    		   II(1092015-1097556)   --


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

    Paralogs
    for SLC6A5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A5 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A142  SLC6A82  SLC6A32  SLC6A12  SLC6A132  
    SLC6A42  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



    Genomic Variants
    for SLC6A5 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

    10/1259 NCBI SNPs in SLC6A5 are shown (see all 1259)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219084951,2
    		Cpathogenic80888901(+) TGTTTC/TAGCTT 2 Q * stg10--------
    rs1219084971,2
    		Cpathogenic80896662(+) CACCAA/GCAGTG 2 N S mis10--------
    rs1219084941,2
    		Cpathogenic80899323(+) TTCTTA/GCAACA 2 Y C mis10--------
    rs1219084981,2
    		Cpathogenic80900658(+) CTTCAC/TGGCCA 2 T M mis11Minor allele frequency- T:0.00NA 4552
    rs1219084931,2
    		Cpathogenic80909632(+) AGGTAA/CTTTGT 2 * Y stg10--------
    rs1219084961,2
    		Cpathogenic80919790(+) CTGTAC/GTACCC 2 L V mis10--------
    rs729444231,2
    		C--20302431(+) CAGCCG/AGAACT 1 -- us2k13Minor allele frequency- A:0.20CSA WA NA 239
    rs729444251,2
    		C,F--20302540(+) TCCCGA/GCCTCT 1 -- us2k14Minor allele frequency- G:0.13CSA WA NA 242
    rs771338331,2
    		F--20302556(+) CGAGCG/AGGCCC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs71236801,2
    		C--20302983(+) CCCGCC/TGCAAT 1 -- us2k15Minor allele frequency- T:0.14NA CSA WA 243

    HapMap Linkage Disequilibrium report for SLC6A5 (20620946 - 20680831 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC6A5
         1 CNV: 5619
    Human Gene Mutation Database (HGMD): SLC6A5

    Locus Specific Mutation Databases (LSDB): SLC6A5

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    Disorders / Diseases
    for SLC6A5 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
    SLC6A5 for disorders           About GeneDecksing

    OMIM gene information: 604159   
    OMIM disorders: 149400  
    UniProtKB/Swiss-Prot: SC6A5_HUMAN, Q9Y345
  • Defects in SLC6A5 are the cause of hyperekplexia type 3 (HKPX3) [MIM:614618]. HKPX3 is 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

    10 diseases for SLC6A5:    About MalaCards
    hyperekplexia    gnathodiaphyseal dysplasia    apnea    bipolar affective disorder
    startle disease    alcohol dependence    alcoholism    schizophrenia
    pneumonia    neuronitis

    2 Novoseek 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
    Hyperekplexia

    Human Genome Epidemiology (HuGE) Navigator: SLC6A5 (94 documents)

    Export disorders for SLC6A5 gene to outside databases

    Publications
    for SLC6A5 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 SLC6A5 gene, integrated from 9 sources (see all 56):
    (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. Characterization of multiple forms of the human glycine transporter type-2. (PubMed id 10381548)1, 2, 9 Gallagher M.J.... Brunden K.R. (1999)
    5. 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)
    6. 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)
    7. Regulation of glycine transporters. (PubMed id 11709067)1, 9 Lopez-Corcuera B....Geerlings A. (2001)
    8. Calpain-mediated proteolytic cleavage of the neuronal glycine transporter, GlyT2. (PubMed id 14675166)1, 9 Baliova M....Jursky F. (2004)
    9. 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, 9 Deng X....Fukumaki Y. (2008)
    10. Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (2012)

    External Searches for SLC6A5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SLC6A5 gene

    (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

    Other Databases showing SLC6A5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC6A5 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 SLC6A5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC6A5 gene

    (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

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