Free for academic non-profit institutions. Other users need a Commercial license

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
  • GC19P019330
  • GC19P019666

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 Metabolism. 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 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

GeneHancer (GH) Regulatory Elements for SLC5A5 Gene

Promoters and enhancers for SLC5A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017871 Promoter 0.9 EPDnew 650.7 +0.5 515 0.1 HDAC1 MEIS2 PKNOX1 ZIC2 OSR2 HDAC2 ZNF341 GLIS1 KDM1A ENSG00000279617 SLC5A5 CCDC124
GH19J017870 Enhancer 0.8 ENCODE 650.7 -0.9 -944 0.2 ATF1 ARID4B SIN3A THRB RAD21 ZNF121 SCRT2 ZNF143 ATF7 BCLAF1 ENSG00000279617 SLC5A5 PIR54406 GC19P020548 GC19P020443
GH19J017869 Enhancer 0.3 ENCODE 650.7 -1.9 -1944 0.2 POU5F1 SLC5A5 PIR54406 GC19P020548 GC19P020443
GH19J017872 Enhancer 0.3 Ensembl 650.7 +1.2 1190 0.4 REST ENSG00000279617 SLC5A5 CCDC124
GH19J017873 Enhancer 1 Ensembl ENCODE 0.7 +2.8 2790 1.2 KLF1 ATF1 KLF17 SIN3A ZNF2 HIC1 ZNF335 CTBP1 GLIS2 POLR2A RPL18A ENSG00000279617 SLC5A5 CCDC124
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SLC5A5 Gene

Genomic Locations for SLC5A5 Gene
chr19:17,871,411-17,895,174
(GRCh38/hg38)
Size:
23,764 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 isoforms=502 and posLast=489489
  • 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

Suggested Antigen Peptide Sequences for SLC5A5 Gene

GenScript: Design optimal peptide antigens:

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 IMP,TAS --
GO:0015293 symporter activity IEA --
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<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

Clone Products

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
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 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

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:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0015705 iodide transport IMP 12021185
GO:0055085 transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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

(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

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

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
SP1:
SP2:

Relevant External Links for SLC5A5 Gene

GeneLoc Exon Structure for
SLC5A5
ECgene alternative splicing isoforms for
SLC5A5

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 and MOPED for SLC5A5 Gene



Protein tissue co-expression partners for SLC5A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A5 Gene:

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(4.4)
  • Stomach(2.4)

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 34 33
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC5A5 34 33
  • 85.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A5 34 33
  • 84.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a5 16 34 33
  • 80.59 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a5 33
  • 80.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A5 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A5 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A5 33
  • 71.66 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a5 33
  • 64.54 (n)
Str.19489 33
zebrafish
(Danio rerio)
Actinopterygii slc5a5 34 33
  • 62.08 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3359 33
fruit fly
(Drosophila melanogaster)
Insecta CG10444 35
  • 38 (a)
CG8957 35
  • 34 (a)
CG8966 35
  • 34 (a)
CG2196 35
  • 33 (a)
CG6723 34 35
  • 32 (a)
ManyToMany
CG8934 35
  • 32 (a)
CG2191 35
  • 32 (a)
CG9657 34 35
  • 31 (a)
ManyToMany
Smvt 34
  • 31 (a)
ManyToMany
salt 34
  • 30 (a)
ManyToMany
CG31668 34
  • 30 (a)
ManyToMany
CG2187 34 35
  • 29 (a)
ManyToMany
CG8451 34 35
  • 29 (a)
ManyToMany
CG31262 34
  • 28 (a)
ManyToMany
CG33124 34
  • 28 (a)
ManyToMany
CG7720 34 35
  • 27 (a)
ManyToMany
CG5687 34 35
  • 27 (a)
ManyToMany
CG42235 34
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F52H2.4 34 35
  • 28 (a)
ManyToMany
ZK822.5 34 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
ManyToMany
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

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 from dbSNP and Humsavar for SLC5A5 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1032915062 uncertain-significance, Thyroid Hormonogenesis Defect 17,894,299(+) C/G 3_prime_UTR_variant
rs116154266 uncertain-significance, Thyroid Hormonogenesis Defect 17,872,284(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs117626343 uncertain-significance, Thyroid Hormonogenesis Defect 17,882,201(+) C/T coding_sequence_variant, synonymous_variant
rs118133504 uncertain-significance, Thyroid Hormonogenesis Defect 17,872,250(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs121909174 pathogenic, Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] 17,881,961(+) A/C coding_sequence_variant, missense_variant

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

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

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 1
  • tdh1
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism
  • endemic cretinism
hypothyroidism
  • thyroid deficiency
neonatal hypothyroidism
  • endemic cretinism
- 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 22 58
  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 58
  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 58
  4. Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake. (PMID: 17854396) Mian C … Girelli ME (Clinical endocrinology 2008) 3 22 58
  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 58

Products for SLC5A5 Gene

Sources for SLC5A5 Gene

Content
Loading form....