SLC26A7 (solute carrier family 26 member 7)

2014-11-01  

Identity

HGNC
LOCATION
8q21.3
LOCUSID
ALIAS
SUT2
FUSION GENES

Other Information

Locus ID:

NCBI: 115111
MIM: 608479
HGNC: 14467
Ensembl: ENSG00000147606

Variants:

dbSNP: 115111
ClinVar: 115111
TCGA: ENSG00000147606
COSMIC: SLC26A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147606ENST00000276609Q8TE54
ENSG00000147606ENST00000309536Q8TE54
ENSG00000147606ENST00000520818H0YB61
ENSG00000147606ENST00000522181E5RGL8
ENSG00000147606ENST00000522862E5RFH2
ENSG00000147606ENST00000523719Q8TE54
ENSG00000147606ENST00000617078A0A087WZI7
ENSG00000147606ENST00000617233Q8TE54

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Multifunctional anion exchangersREACTOMER-HSA-427601

References

Pubmed IDYearTitleCitations
165249462006Chloride/bicarbonate exchanger SLC26A7 is localized in endosomes in medullary collecting duct cells and is targeted to the basolateral membrane in hypertonicity and potassium depletion.9
118294952002Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney.6
295463592018Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.6
303333212018Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.6
159568102005SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney.4

Citation

Dessen P

SLC26A7 (solute carrier family 26 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73375/slc26a7