SLC26A8 (solute carrier family 26 member 8)

2014-11-01  

Identity

HGNC
SLC26A8
LOCATION
6p21.31
LOCUSID
116369
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10005adefovir dipivoxilChemicalPathwayassociated
PA10204tenofovirChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192210962009Absence of annulus in human asthenozoospermia: case report.22
235826452013Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.20
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
195787962009Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.7
155796552005Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.5
155796552005Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.5

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