Entity Details

Primary name SLC5A5
Entity type gene
Source Source Link

Details

PrimaryID6528
RefseqGeneNG_012930
SymbolSLC5A5
Namesolute carrier family 5 member 5
Chromosome19
Location19p13.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSC5A5_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0006590 thyroid hormone generation
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0008507 sodium:iodide symporter activity
GO:0015111 iodide transmembrane transporter activity
GO:0015293 symporter activity
GO:0015705 iodide transport
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome
GO:0071320 cellular response to cAMP
GO:0071371 cellular response to gonadotropin stimulus
GO:0150104 transport across blood-brain barrier
GO:1903561 extracellular vesicle
GO:1904200 iodide transmembrane transport

Diseases

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Disease IDSourceNameDescription
274400 OMIMThyroid dyshormonogenesis 1 (TDH1)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. The disease is caused by variants affecting the gene represented in this entry.