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Aliases for SLC5A5 Gene

Aliases for SLC5A5 Gene

  • Solute Carrier Family 5 Member 5 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Iodide Cotransporter), Member 5 2 3
  • Solute Carrier Family 5 (Sodium Iodide Symporter), Member 5 2 3
  • Na(+)/I(-) Cotransporter 3 4
  • Na(+)/I(-) Symporter 3 4
  • NIS 3 4
  • Sodium/Iodide Cotransporter 3
  • Sodium-Iodide Symporter 4
  • TDH1 3

External Ids for SLC5A5 Gene

Previous GeneCards Identifiers for SLC5A5 Gene

  • GC19P018476
  • GC19P018374
  • GC19P017827
  • GC19P017843
  • GC19P017982
  • GC19P017548
  • GC19P017976
  • GC19P018177
  • GC19P018295
  • GC19P018329
  • GC19P018703
  • GC19P019012

Summaries for SLC5A5 Gene

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 Member 5) is a Protein Coding gene. Diseases associated with SLC5A5 include Thyroid Dyshormonogenesis 1 and Familial Thyroid Dyshormonogenesis. Among its related pathways are Insulin secretion and Metabolism. GO annotations related to this gene include transporter activity and iodide transmembrane transporter activity. An important paralog of this gene is SLC5A8.

UniProtKB/Swiss-Prot for SLC5A5 Gene

  • Mediates iodide uptake in the thyroid gland.

Gene Wiki entry for SLC5A5 Gene

Additional gene information for SLC5A5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A5 Gene

Genomics for SLC5A5 Gene

Regulatory Elements for SLC5A5 Gene

Enhancers for SLC5A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H017870 0.8 ENCODE 0.7 -0.9 -945 0.2 BCOR CTCF TFAP4 ATF1 ARID4B ZMYM3 ZNF384 THRB RAD21 ZNF121 SLC5A5 PIR54406 GC19P019848 GC19P019710
GH19H017869 0.2 ENCODE 0.7 -1.9 -1945 0.2 SLC5A5 PIR54406 GC19P019848 GC19P019710
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC5A5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC5A5 Gene

Genomic Locations for SLC5A5 Gene
23,764 bases
Plus strand

Genomic View for SLC5A5 Gene

Genes around SLC5A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A5 Gene

Proteins for SLC5A5 Gene

  • Protein details for SLC5A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium/iodide cotransporter
    Protein Accession:
    Secondary Accessions:
    • O43702
    • Q2M335
    • Q9NYB6

    Protein attributes for SLC5A5 Gene

    643 amino acids
    Molecular mass:
    68666 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC5A5 Gene

Post-translational modifications for SLC5A5 Gene

  • Glycosylation at Asn489 and isoforms=502
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A5 Gene

No data available for DME Specific Peptides for SLC5A5 Gene

Domains & Families for SLC5A5 Gene

Gene Families for SLC5A5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A5 Gene

Suggested Antigen Peptide Sequences for SLC5A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A5: view

Function for SLC5A5 Gene

Molecular function for SLC5A5 Gene

GENATLAS Biochemistry:
solute carrier family 5 member 5,sodium iodide symporter,expressed in thyroid,breast,colon and ovary,involved in thyroid hormone synthesis and metabolism pathway
UniProtKB/Swiss-Prot Function:
Mediates iodide uptake in the thyroid gland.

Gene Ontology (GO) - Molecular Function for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008507 sodium:iodide symporter activity TAS --
GO:0015111 iodide transmembrane transporter activity TAS,IMP --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A5: view
genes like me logo Genes that share phenotypes with SLC5A5: view

Human Phenotype Ontology for SLC5A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC5A5 Gene

Localization for SLC5A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC5A5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15961562
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with SLC5A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC5A5 Gene

Pathways & Interactions for SLC5A5 Gene

genes like me logo Genes that share pathways with SLC5A5: view

Pathways by source for SLC5A5 Gene

Interacting Proteins for SLC5A5 Gene

Gene Ontology (GO) - Biological Process for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0006810 transport TAS 8806637
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0015705 iodide transport IMP,IEA 12021185
genes like me logo Genes that share ontologies with SLC5A5: view

No data available for SIGNOR curated interactions for SLC5A5 Gene

Drugs & Compounds for SLC5A5 Gene

(6) Drugs for SLC5A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SLC5A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion
genes like me logo Genes that share compounds with SLC5A5: view

Transcripts for SLC5A5 Gene

mRNA/cDNA for SLC5A5 Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC5A5 Gene

Solute carrier family 5 (sodium iodide symporter), member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A5 Gene

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

Relevant External Links for SLC5A5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC5A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC5A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A5 Gene

This gene is overexpressed in Stomach (x22.6), Cervix - Endocervix (x8.5), Thyroid (x7.6), and Minor Salivary Gland (x5.1).

Protein differential expression in normal tissues from HIPED for SLC5A5 Gene

This gene is overexpressed in Stomach (49.2) and Salivary gland (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC5A5 Gene

Protein tissue co-expression partners for SLC5A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A5 Gene:


SOURCE GeneReport for Unigene cluster for SLC5A5 Gene:


mRNA Expression by UniProt/SwissProt for SLC5A5 Gene:

Tissue specificity: Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.

Evidence on tissue expression from TISSUES for SLC5A5 Gene

  • Thyroid gland(4.7)
  • Nervous system(4.4)
  • Stomach(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • breast
  • heart
  • lung
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • ovary
  • rectum
  • urinary bladder
  • uterus
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SLC5A5: view

Primer Products

Orthologs for SLC5A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC5A5 33 34
  • 99.48 (n)
(Bos Taurus)
Mammalia SLC5A5 33 34
  • 85.77 (n)
(Canis familiaris)
Mammalia SLC5A5 33 34
  • 84.84 (n)
(Mus musculus)
Mammalia Slc5a5 33 16 34
  • 80.59 (n)
(Rattus norvegicus)
Mammalia Slc5a5 33
  • 80.15 (n)
(Monodelphis domestica)
Mammalia SLC5A5 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia SLC5A5 34
  • 54 (a)
(Gallus gallus)
Aves SLC5A5 33
  • 71.66 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a5 33
  • 64.54 (n)
Str.19489 33
(Danio rerio)
Actinopterygii slc5a5 33 34
  • 62.08 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3359 33
fruit fly
(Drosophila melanogaster)
Insecta CG10444 35
  • 38 (a)
CG6723 35 34
  • 34 (a)
CG8957 35
  • 34 (a)
CG8966 35
  • 34 (a)
CG2187 35 34
  • 33 (a)
CG2196 35
  • 33 (a)
CG5687 35 34
  • 33 (a)
CG2191 35
  • 32 (a)
CG8934 35
  • 32 (a)
CG7720 35 34
  • 31 (a)
CG9657 35 34
  • 31 (a)
Smvt 34
  • 31 (a)
CG31668 34
  • 30 (a)
salt 34
  • 30 (a)
CG8451 35 34
  • 29 (a)
CG31262 34
  • 28 (a)
CG33124 34
  • 28 (a)
CG42235 34
  • 27 (a)
(Caenorhabditis elegans)
Secernentea ZK822.5 35 34
  • 31 (a)
F52H2.4 35 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for SLC5A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC5A5 Gene

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

Paralogs for SLC5A5 Gene

(3) SIMAP similar genes for SLC5A5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC5A5: view

Variants for SLC5A5 Gene

Sequence variations from dbSNP and Humsavar for SLC5A5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121909174 Pathogenic, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,881,961(+) ACAGC(A/C)CAGCA reference, missense
rs121909176 Pathogenic, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,877,823(+) AGGTG(C/G)AGCGC reference, missense
rs121909178 Pathogenic, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,872,596(+) GCCTG(A/C/G)GCCAG upstream-variant-2KB, reference, missense
rs121909179 Pathogenic, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,888,432(+) GTGCG(A/G)AGCCC reference, missense
rs121909180 Pathogenic, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,882,160(+) TCTAC(A/G)GATCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC5A5 Gene

Variant ID Type Subtype PubMed ID
nsv833772 CNV gain+loss 17160897
esv3643826 CNV loss 21293372
esv2672635 CNV deletion 23128226

Variation tolerance for SLC5A5 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A5 Gene

Disorders for SLC5A5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC5A5 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 1
  • chdh1
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
thyroid hormonogenesis defect i
  • iodide transport defect
congenital hypothyroidism
  • cretinism
  • goitre
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:10487695, ECO:0000269 PubMed:9171822, ECO:0000269 PubMed:9486973, ECO:0000269 PubMed:9745458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC5A5 Gene

congenital hypothyroidism with goiter,low thyroidal and salivary gland radioiodide uptake

Relevant External Links for SLC5A5

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC5A5: view

Publications for SLC5A5 Gene

  1. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. (PMID: 10487695) Kosugi S … Dean HJ (The Journal of clinical endocrinology and metabolism 1999) 3 4 22 60
  2. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. (PMID: 20153805) Spitzweg C … Morris JC (Molecular and cellular endocrinology 2010) 3 22 60
  3. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. (PMID: 19916865) Montanelli L … Tonacchera M (Thyroid : official journal of the American Thyroid Association 2009) 3 22 60
  4. Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake. (PMID: 17854396) Mian C … Girelli ME (Clinical endocrinology 2008) 3 22 60
  5. Identification of cyclic adenosine 3',5'-monophosphate response element modulator as an activator of the human sodium/iodide symporter upstream enhancer. (PMID: 18202121) Fenton MS … Hershman JM (Endocrinology 2008) 3 22 60

Products for SLC5A5 Gene

Sources for SLC5A5 Gene

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