SLC26A8 (solute carrier family 26 member 8)

2014-11-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
SPGF3,TAT1

Other Information

Locus ID:

NCBI: 116369
MIM: 608480
HGNC: 14468
Ensembl: ENSG00000112053

Variants:

dbSNP: 116369
ClinVar: 116369
TCGA: ENSG00000112053
COSMIC: SLC26A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112053ENST00000355574Q96RN1
ENSG00000112053ENST00000355574A0A024RCV0
ENSG00000112053ENST00000394602Q96RN1
ENSG00000112053ENST00000465492H7C4T4
ENSG00000112053ENST00000469847H7C5E6
ENSG00000112053ENST00000480663C9JMV8
ENSG00000112053ENST00000490799Q96RN1
ENSG00000112053ENST00000490799A0A024RCV0

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10005adefovir dipivoxilChemicalPathwayassociated
PA10204tenofovirChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
349237152022Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.5
351819592022The heterozygous mutations of SLC26A8 are not the main actors for male infertility.0
349237152022Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.5
351819592022The heterozygous mutations of SLC26A8 are not the main actors for male infertility.0
235826452013Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.40
235826452013Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.40
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.20
192210962009Absence of annulus in human asthenozoospermia: case report.32
195787962009Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.8
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.20

Citation

Dessen P

SLC26A8 (solute carrier family 26 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73376/slc26a8-(solute-carrier-family-26-member-8)