SLC26A6 (solute carrier family 26 member 6)

2012-11-01  

Identity

HGNC
SLC26A6
LOCATION
3p21.31
LOCUSID
65010
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65010
MIM: 610068
HGNC: 14472
Ensembl: ENSG00000225697

Variants:

dbSNP: 65010
ClinVar: 65010
TCGA: ENSG00000225697
COSMIC: SLC26A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000225697ENST00000307364F8W9I8
ENSG00000225697ENST00000337000G3XAC1
ENSG00000225697ENST00000358747A0A0C4DFT5
ENSG00000225697ENST00000383733Q9BXS9
ENSG00000225697ENST00000395550Q9BXS9
ENSG00000225697ENST00000414944H7BZB1
ENSG00000225697ENST00000420764Q9BXS9
ENSG00000225697ENST00000421649H7BZJ6
ENSG00000225697ENST00000426599C9J6Y3
ENSG00000225697ENST00000431213H7BZ36
ENSG00000225697ENST00000431739C9JKR6
ENSG00000225697ENST00000444531H7C291
ENSG00000225697ENST00000455886Q9BXS9

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

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
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
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

References

Pubmed IDYearTitleCitations
166066872006Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and slc26a6.65
155485292005Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity.48
181742092008Species differences in Cl- affinity and in electrogenicity of SLC26A6-mediated oxalate/Cl- exchange correlate with the distinct human and mouse susceptibilities to nephrolithiasis.25
189516702008Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.18
189516702008Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.18
199105242010Mechanisms of lysophosphatidic acid (LPA) mediated stimulation of intestinal apical Cl-/OH- exchange.14
205014392009Parsing apical oxalate exchange in Caco-2BBe1 monolayers: siRNA knockdown of SLC26A6 reveals the role and properties of PAT-1.14
193675812010Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.13
178814262008Familial pure proximal renal tubular acidosis--a clinical and genetic study.12
186551812008Characterization of the 5'-flanking region and regulation of expression of human anion exchanger SLC26A6.9

Citation

Dessen P

SLC26A6 (solute carrier family 26 member 6)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53046/slc26a6