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
387737692024The role of the STAS domain in SLC26A9 for chloride ion transporter function.0
387737692024The role of the STAS domain in SLC26A9 for chloride ion transporter function.0
370686952023Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.2
376860842023Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.2
370686952023Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.2
376860842023Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.2
353284182022Expression of SLC26A9 in Airways and Its Potential Role in Asthma.7
354260842022SLC26A9 deficiency causes gastric intraepithelial neoplasia in mice and aggressive gastric cancer in humans.7
353284182022Expression of SLC26A9 in Airways and Its Potential Role in Asthma.7
354260842022SLC26A9 deficiency causes gastric intraepithelial neoplasia in mice and aggressive gastric cancer in humans.7
336742112021SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.7
348213562021SLC26A9 is selected for endoplasmic reticulum associated degradation (ERAD) via Hsp70-dependent targeting of the soluble STAS domain.3
348848662021Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.9
349440082021Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.5
336742112021SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.7

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-(solute-carrier-family-26-member-9)