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SLC5A5 Gene

protein-coding   GIFtS: 65
GCID: GC19P017982

Solute Carrier Family 5 (Sodium/Iodide Cotransporter), Member...

(Previous names: solute carrier family 5 (sodium iodide symporter), member...)
  See SLC5A5-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/Iodide Cotransporter), Member 51 2     TDH12 5
NIS2 3 5     Sodium/Iodide Cotransporter2
Solute Carrier Family 5 (Sodium Iodide Symporter), Member 51 2     Sodium-Iodide Symporter3
Na(+)/I(-) Cotransporter2 3     Solute Carrier Family 5 Member 53
Na(+)/I(-) Symporter2 3     

External Ids:    HGNC: 110401   Entrez Gene: 65282   Ensembl: ENSG000001056417   OMIM: 6018435   UniProtKB: Q929113   

Export aliases for SLC5A5 gene to outside databases

Previous GC identifers: GC19P018476 GC19P018374 GC19P017827 GC19P017843 GC19P017548


(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 SLC5A5 Gene:
This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the
uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid
is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in
this gene are associated with thyroid dyshormonogenesis 1.(provided by RefSeq, Sep 2009)

GeneCards Summary for SLC5A5 Gene:
SLC5A5 (solute carrier family 5 (sodium/iodide cotransporter), member 5) is a protein-coding gene. Diseases associated with SLC5A5 include rapsn-related congenital myasthenic syndrome, and neonatal hypothyroidism. GO annotations related to this gene include iodide transmembrane transporter activity and sodium:iodide symporter activity. An important paralog of this gene is ENSG00000272962.

UniProtKB/Swiss-Prot: SC5A5_HUMAN, Q92911
Function: Mediates iodide uptake in the thyroid gland

Gene Wiki entry for SLC5A5 (Sodium-iodide symporter) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC5A5 gene promoter:
         STAT5B   AP-1   NRSF form 1   MyoD   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC5A5 promoter sequence
   Search Chromatin IP Primers for SLC5A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC5A5


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

SLC5A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC5A5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017982:  view genomic region     (about GC identifiers)

Start:
17,982,782 bp from pter      End:
18,005,983 bp from pter
Size:
23,202 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SC5A5_HUMAN, Q92911 (See protein sequence)
Recommended Name: Sodium/iodide cotransporter  
Size: 643 amino acids; 68666 Da
Secondary accessions: O43702 Q2M335 Q9NYB6

Explore the universe of human proteins at neXtProt for SLC5A5: NX_Q92911

Explore proteomics data for SLC5A5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn489, Asn502
  • Modification sites at PhosphoSitePlus

  • See SLC5A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000444.1  
    ENSEMBL proteins: 
     ENSP00000222248  
    Reactome Protein details: Q92911

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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: NIS
    Sodium iodide symporter, sodium-dependent multivitamin transporter and sodium-coupled monocarboxylate transporters

    3 InterPro protein domains:
     IPR019900 Na/solute_symporter_subgr
     IPR018212 Na/solute_symporter_CS
     IPR001734 Na/solute_symporter

    Graphical View of Domain Structure for InterPro Entry Q92911

    ProtoNet protein and cluster: Q92911

    1 Blocks protein domain: IPB001734 Na+/solute symporter

    UniProtKB/Swiss-Prot: SC5A5_HUMAN, Q92911
    Similarity: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family


    Find genes that share domains with SLC5A5           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC5A5_HUMAN, Q92911
    Function: Mediates iodide uptake in the thyroid gland

         Genatlas biochemistry entry for SLC5A5:
    solute carrier family 5 member 5,sodium iodide symporter,expressed in thyroid,breast,colon and ovary,involved in
    thyroid hormone synthesis and metabolism pathway

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0008507sodium:iodide symporter activity IEA--
    GO:0015111iodide transmembrane transporter activity IMP12021185
    GO:0015293symporter activity ----
         
    Find genes that share ontologies with SLC5A5           About GenesLikeMe


    Animal Models:
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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
    SC5A5_HUMAN, Q92911: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15961562
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with SLC5A5           About GenesLikeMe


    (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 SLC5A5 About   (see all 6)  
    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 inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Organic anion transporters0.00
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Thyroxine biosynthesis0.00
    Amine-derived hormones0.00
    3Metabolism
    Metabolism0.38
    4Insulin secretion
    Thyroid hormone synthesis0.36
    5Thyroxine (Thyroid Hormone) Production
    Thyroxine (Thyroid Hormone) Production


    Find genes that share SuperPaths with SLC5A5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC5A5
        Thyroxine (Thyroid Hormone) Production

    2 Reactome Pathways for SLC5A5
        Thyroxine biosynthesis
    Organic anion transporters


    1 Kegg Pathway  (Kegg details for SLC5A5):
        Thyroid hormone synthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC5A5
    Interactions:

        GeneGlobe Interaction Network for SLC5A5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SLC5A5 (Q929113 ENSP000002222484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2IPQ96RT13I2D: score=1 
    --ENSP000002992334STRING: ENSP00000299233
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation TAS--
    GO:0006810transport TAS8806637
    GO:0006811ion transport TAS--
    GO:0015705iodide transport IMP12021185
    GO:0034641cellular nitrogen compound metabolic process TAS--

    Find genes that share ontologies with SLC5A5           About GenesLikeMe



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC5A5 (SC5A5)

    1 HMDB Compound for SLC5A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    9 Novoseek inferred chemical compound relationships for SLC5A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium iodide 95 13 18205108 (3), 10895037 (1), 16500013 (1), 19098211 (1) (see all 7)
    iodide 91.4 50 18708479 (5), 12028133 (3), 10487695 (3), 15850642 (3) (see all 23)
    perchlorate 69.2 3 15850642 (1), 16500013 (1), 14633711 (1)
    iodine 60.8 2 18205108 (1), 14757968 (1)
    sodium 58.1 9 12028133 (1), 20123735 (1), 11061512 (1), 10487695 (1) (see all 9)
    125i 56.1 2 15347726 (2)
    luteolin 51.5 1 15080787 (1)
    kaempferol 48.7 1 15080787 (1)
    oligonucleotide 2.02 1 9589686 (1)



    Find genes that share compounds with SLC5A5           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC5A5 gene: 
    NM_000453.2  

    Unigene Cluster for SLC5A5:

    Solute carrier family 5 (sodium iodide symporter), member 5
    Hs.584804  [show with all ESTs]
    Unigene Representative Sequence: NM_000453
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222248(uc002nhr.4) ENST00000597109
    miRNA
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    Additional mRNA sequence: 

    AF260700.1 BC105047.1 BC105049.1 BX648217.1 D87920.1 U66088.1 

    2 DOTS entries:

    DT.106024  DT.101975701 

    6 AceView cDNA sequences:

    U66088 NM_000453 BX648217 AF260700 D87920 BX509090 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A5    About this scheme

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


    ECgene alternative splicing isoforms for SLC5A5

    (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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    SLC5A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCTACTGA
    SLC5A5 Expression
    About this image


    SLC5A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
    SLC5A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC5A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584804

    UniProtKB/Swiss-Prot: SC5A5_HUMAN, Q92911
    Tissue specificity: Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and
    ovary. Expression is reduced in tumors

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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 SLC5A5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc5a51 , 5 solute carrier family 5 (sodium iodide symporter), more1, 5 80.59(n)1
    84.34(a)1
      8 (34.36 cM)5
    1144791  NM_053248.21  NP_444478.21 
     708828895 
    chicken
    (Gallus gallus)
    Aves SLC5A51 solute carrier family 5 (sodium iodide symporter), more 71.66(n)
    72.98(a)
      431544  XM_429095.4  XP_429095.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    43(a)
    many ↔ many
    5(28343214-28379937)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.194892 Transcribed sequence with moderate similarity to protein more 75.09(n)    AL881480.2 
    zebrafish
    (Danio rerio)
    Actinopterygii slc5a51 solute carrier family 5 (sodium iodide symporter), more 62.08(n)
    63.16(a)
      561445  NM_001089391.1  NP_001082860.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104443 sodium dependent multivitamin
    transporter
    38(a)
    (best of 12)
      56F14   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK822.53 sodium/proline symporter like 31(a)
    (best of 2)
      IV(11937591-11940680)   --


    ENSEMBL Gene Tree for SLC5A5 (if available)
    TreeFam Gene Tree for SLC5A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC5A5 gene
    ENSG000002729622  SLC5A82  SLC5A12  SLC5A42  SLC5A112  SLC5A92  SLC5A102  SLC5A32  
    SLC5A22  SLC5A62  SLC5A122  
    3 SIMAP similar genes for SLC5A5 using alignment to 1 protein entry:     SC5A5_HUMAN:
    SLC5A8    SLC5A12    SLC5A6

    Find genes that share paralogs with SLC5A5           About GenesLikeMe



    (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 SLC5A5 (see all 718)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102674
    Thyroid dyshormonogenesis 1 (TDH1)4--see VAR_0102672 G R mis40--------
    VAR_0102664
    Thyroid dyshormonogenesis 1 (TDH1)4--see VAR_0102662 T P mis40--------
    VAR_0102634
    Thyroid dyshormonogenesis 1 (TDH1)4--see VAR_0102632 G R mis40--------
    VAR_0102694
    Thyroid dyshormonogenesis 1 (TDH1)4--see VAR_0102692 G E mis40--------
    VAR_0102654
    Thyroid dyshormonogenesis 1 (TDH1)4--see VAR_0102652 Q E mis40--------
    rs1219091801,2
    Cpathogenic117924404(+) TCTACA/GGATCG 2 R G mis10--------
    rs1219091771,2
    Cpathogenic117930641(+) TATTAC/G/TGGTGC 2 Y * stg11NA 4552
    rs118795311,2
    C,F,H--17912527(+) CAGCCG/AGCAAC 1 -- us2k12Minor allele frequency- A:0.12NA WA 122
    rs284473841,2
    C--17912559(+) AGTGTC/TACAGC 1 -- us2k14Minor allele frequency- T:0.24WA CSA EA 241
    rs739227421,2
    C--17912622(+) GTCCGG/AGGGTT 1 -- us2k13Minor allele frequency- A:0.23WA EA 240

    HapMap Linkage Disequilibrium report for SLC5A5 (17982782 - 18005983 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC5A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672635CNV Deletion23128226
    dgv3766n71CNV Loss21882294
    nsv911219CNV Loss21882294
    nsv911214CNV Loss21882294
    nsv911209CNV Loss21882294
    nsv833772CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): SLC5A5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC5A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC5A5

    (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

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    OMIM gene information: 601843   
    OMIM disorders: 274400  
    UniProtKB/Swiss-Prot: SC5A5_HUMAN, Q92911
  • Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]: A disorder characterized by the inability of the thyroid
    to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland,
    leading to congenital hypothyroidism. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 7 diseases for SLC5A5:    
    About MalaCards
    rapsn-related congenital myasthenic syndrome    neonatal hypothyroidism    thyroid hormonogenesis defect i    thyroid dyshormonogenesis 1
    papillary carcinoma    hypothyroidism    follicular thyroid carcinoma

    3 diseases from the University of Copenhagen DISEASES database for SLC5A5:
    Thyroid cancer     Hypothyroidism     Pneumonia

    Find genes that share disorders with SLC5A5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC5A5 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital hypothyroidism 74.1 4 10895037 (1), 10487695 (1), 19916865 (1), 20153805 (1)
    thyroid cancer 67.2 5 11061512 (3), 14757968 (1), 18202121 (1)
    thyroid carcinoma 55 4 11454507 (2), 11061512 (1)
    goiter 53.6 1 20153805 (1)
    autoimmune thyroid disease 42.9 1 14550956 (1)
    thyroid diseases 40.5 6 16121204 (1), 18205108 (1), 11716040 (1)
    hypothyroidism 38.6 14 16418213 (2), 20153805 (1)
    thyroid papillary carcinoma 37.3 1 17639055 (1)
    tumors 19.4 14 14633711 (2), 18058866 (2), 18676766 (1), 17931047 (1) (see all 8)
    cancer 6.48 2 18205108 (1), 17854396 (1)

    Genatlas disease: SLC5A5
    congenital hypothyroidism with goiter,low thyroidal and salivary gland radioiodide uptake

    Human Genome Epidemiology (HuGE) Navigator: SLC5A5 (1 document)

    Export disorders for SLC5A5 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

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    PubMed articles for SLC5A5 gene, integrated from 10 sources (see all 152):
    (articles sorted by number of sources associating them with SLC5A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. (PubMed id 10487695)1, 2, 9 Kosugi S.... Dean H.J. (J. Clin. Endocrinol. Metab. 1999)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    3. 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)
    4. Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site. (PubMed id 9486973)1, 2 Pohlenz J....Refetoff S. (J. Clin. Invest. 1998)
    5. Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. (PubMed id 9745458)1, 2 Kosugi S.... Jhiang S.M. (J. Clin. Endocrinol. Metab. 1998)
    6. Increased expression of the Na+/I- symporter in cultured human thyroid cells exposed to thyrotropin and in Graves' thyroid tissue. (PubMed id 9329364)1, 2 Saito T....Onaya T. (J. Clin. Endocrinol. Metab. 1997)
    7. Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter. (PubMed id 9231811)1, 3 Smanik P.A....Jhiang S.M. (Endocrinology 1997)
    8. Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. (PubMed id 9171822)1, 2 Fujiwara H....Amino N. (Nat. Genet. 1997)
    9. Cloning of the human sodium iodide symporter. (PubMed id 8806637)1, 2 Smanik P.A....Jhiang S.M. (Biochem. Biophys. Res. Commun. 1996)
    10. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. (PubMed id 20153805)1, 9 Spitzweg C. and Morris J.C. (Mol. Cell. Endocrinol. 2010)

    (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)
    About This Section

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    Entrez Gene: 6528 HGNC: 11040 AceView: SLC5A5 Ensembl:ENSG00000105641 euGenes: HUgn6528
    ECgene: SLC5A5 Kegg: 6528 H-InvDB: SLC5A5

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC5A5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC5A5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC5A5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC5A5 gene:
    Search GeneIP for patents involving SLC5A5

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



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