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 dyshor... See more...

Aliases for SLC5A5 Gene

Aliases for SLC5A5 Gene

  • Solute Carrier Family 5 Member 5 2 3 4 5
  • NIS 2 3 4
  • Solute Carrier Family 5 (Sodium/Iodide Cotransporter), Member 5 2 3
  • Solute Carrier Family 5 (Sodium Iodide Symporter), Member 5 2 3
  • Sodium/Iodide Cotransporter 3 4
  • Na(+)/I(-) Cotransporter 3 4
  • Na(+)/I(-) Symporter 3 4
  • Sodium-Iodide Symporter 4
  • SLC5A5 5
  • TDH1 3

External Ids for SLC5A5 Gene

Previous GeneCards Identifiers for SLC5A5 Gene

  • GC19P018476
  • GC19P018374
  • GC19P017827
  • GC19P017843
  • GC19P017982
  • GC19P017548
  • GC19P017976
  • GC19P018177
  • GC19P020484
  • GC19P020626
  • GC19P020731
  • GC19P022240
  • GC19P018295
  • GC19P018329
  • GC19P018703
  • GC19P019012
  • GC19P019330
  • GC19P019666
  • GC19P020027
  • GC19P020342

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Thyroxine (Thyroid Hormone) Production. Gene Ontology (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 Summary for SLC5A5 Gene

Gene Wiki entry for SLC5A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A5 Gene

Genomics for SLC5A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC5A5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A5

Top Transcription factor binding sites by QIAGEN in the SLC5A5 gene promoter:
  • AP-1
  • c-Jun
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • STAT5B

Genomic Locations for SLC5A5 Gene

Genomic Locations for SLC5A5 Gene
chr19:17,871,394-17,895,175
(GRCh38/hg38)
Size:
23,782 bases
Orientation:
Plus strand
chr19:17,982,782-18,005,983
(GRCh37/hg19)
Size:
23,202 bases
Orientation:
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:
    Q92911-SC5A5_HUMAN
    Recommended name:
    Sodium/iodide cotransporter
    Protein Accession:
    Q92911
    Secondary Accessions:
    • O43702
    • Q2M335
    • Q9NYB6

    Protein attributes for SLC5A5 Gene

    Size:
    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 Asn502
  • 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

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

Protein Domains for SLC5A5 Gene

InterPro:
Blocks:
  • Na+/solute symporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A5 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 5 member 5 (SC5A5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92911

UniProtKB/Swiss-Prot:

SC5A5_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
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

UniProtKB/Swiss-Prot Function:
Mediates iodide uptake in the thyroid gland.
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

Phenotypes From GWAS Catalog for SLC5A5 Gene

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 IBA,TAS --
GO:0015293 symporter activity IEA,IBA 21873635
GO:0022857 transmembrane transporter 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 Models for SLC5A5 Gene

MGI Knock Outs for SLC5A5:
  • Slc5a5 Slc5a5<tm1b(KOMP)Wtsi>
  • Slc5a5 Slc5a5<tm1d(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SLC5A5 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A5

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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
nucleus 5
extracellular 4
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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 HDA 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

SIGNOR curated interactions for SLC5A5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SLC5A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA,IBA 21873635
GO:0015705 iodide transport IBA,IMP 12021185
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC5A5: view

Drugs & Compounds for SLC5A5 Gene

(7) Drugs for SLC5A5 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iodine Approved, Investigational Pharma Target, Transporter, substrate 825
Potassium perchlorate Approved, Investigational Pharma Target, inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A5: view

Transcripts for SLC5A5 Gene

mRNA/cDNA for SLC5A5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A5

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
SP1:
SP2:

Relevant External Links for SLC5A5 Gene

GeneLoc Exon Structure for
SLC5A5

Expression for SLC5A5 Gene

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



Protein tissue co-expression partners for SLC5A5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A5

SOURCE GeneReport for Unigene cluster for SLC5A5 Gene:

Hs.584804

mRNA Expression by UniProt/SwissProt for SLC5A5 Gene:

Q92911-SC5A5_HUMAN
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(4.5)
  • Stomach(3)
  • Blood(2.2)
  • Kidney(2.1)
  • Heart(2)
  • Intestine(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • rectum
  • urinary bladder
  • uterus
General:
  • 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

Orthologs for SLC5A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC5A5 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC5A5 30 31
  • 85.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC5A5 30 31
  • 84.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc5a5 30 17 31
  • 80.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc5a5 30
  • 80.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC5A5 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A5 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC5A5 30
  • 71.66 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 43 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc5a5 30
  • 64.54 (n)
Str.19489 30
Zebrafish
(Danio rerio)
Actinopterygii slc5a5 30 31
  • 62.08 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3359 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10444 32
  • 38 (a)
CG8957 32
  • 34 (a)
CG8966 32
  • 34 (a)
CG2196 32
  • 33 (a)
CG6723 31 32
  • 32 (a)
ManyToMany
CG2191 32
  • 32 (a)
CG8934 32
  • 32 (a)
CG9657 31 32
  • 31 (a)
ManyToMany
Smvt 31
  • 31 (a)
ManyToMany
salt 31
  • 30 (a)
ManyToMany
CG31668 31
  • 30 (a)
ManyToMany
CG2187 31 32
  • 29 (a)
ManyToMany
CG8451 31 32
  • 29 (a)
ManyToMany
CG31262 31
  • 28 (a)
ManyToMany
CG33124 31
  • 28 (a)
ManyToMany
CG7720 31 32
  • 27 (a)
ManyToMany
CG5687 31 32
  • 27 (a)
ManyToMany
CG42235 31
  • 27 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F52H2.4 31 32
  • 28 (a)
ManyToMany
ZK822.5 31 32
  • 28 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
ManyToMany
Species where no ortholog for SLC5A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for SLC5A5 (if available)
TreeFam:
Gene Tree for SLC5A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A5: view image

Paralogs for SLC5A5 Gene

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

  • SC5A5_HUMAN
genes like me logo Genes that share paralogs with SLC5A5: view

Variants for SLC5A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
709681 Likely Benign: not provided 17,877,744(+) C/T SYNONYMOUS_VARIANT
732395 Likely Benign: not provided 17,890,935(+) C/T SYNONYMOUS_VARIANT
734944 Likely Benign: not provided 17,881,981(+) T/C SYNONYMOUS_VARIANT
737638 Benign: not provided 17,883,713(+) C/T SYNONYMOUS_VARIANT
737639 Conflicting Interpretations: Thyroid dyshormonogenesis 1; not provided 17,893,725(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC5A5 Gene

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

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

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)

Additional Variant Information for SLC5A5 Gene

Human Gene Mutation Database (HGMD)
SLC5A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A5

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

Disorders for SLC5A5 Gene

MalaCards: The human disease database

(18) MalaCards diseases for SLC5A5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 1
  • tdh1
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism
  • endemic cretinism
hypothyroidism
  • thyroid deficiency
goiter
  • goitre
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC5A5_HUMAN
  • 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

Additional Disease Information for SLC5A5

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 23
  2. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. (PMID: 20153805) Spitzweg C … Morris JC (Molecular and cellular endocrinology 2010) 3 23
  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 23
  4. 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 23
  5. Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake. (PMID: 17854396) Mian C … Girelli ME (Clinical endocrinology 2008) 3 23

Products for SLC5A5 Gene

Sources for SLC5A5 Gene