SLC26A9 (solute carrier family 26 member 9)

2014-11-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 115019
MIM: 608481
HGNC: 14469
Ensembl: ENSG00000174502

Variants:

dbSNP: 115019
ClinVar: 115019
TCGA: ENSG00000174502
COSMIC: SLC26A9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174502ENST00000340781Q7LBE3
ENSG00000174502ENST00000367134Q7LBE3
ENSG00000174502ENST00000367135Q7LBE3

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165950341ivacaftorChemicalClinicalAnnotationassociatedPD
PA443829Cystic FibrosisDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
192895742009SLC26A9 is a constitutively active, CFTR-regulated anion conductance in human bronchial epithelia.61
224666132012Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.59
176735102007SLC26A9 is a Cl(-) channel regulated by the WNK kinases.49
236709702013Genetic modifiers of cystic fibrosis-related diabetes.44
196437302009Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain.35
229456302012SLC26A9-mediated chloride secretion prevents mucus obstruction in airway inflammation.35
187690292008Characterization of SLC26A9, facilitation of Cl(-) transport by bicarbonate.32
203313782010Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus.29
206585172011SLC26A9 stimulates CFTR expression and function in human bronchial cell lines.28
281715472016Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.22

Citation

Dessen P

SLC26A9 (solute carrier family 26 member 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73377/slc26a9