Property Summary

NCBI Gene PubMed Count 44
PubMed Score 275.46
PubTator Score 134.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Achondrogenesis 6 6.792 3.4
Multiple epiphyseal dysplasia 12 6.686 3.3

Expression

  Differential Expression (28)

Disease log2 FC p
gastric cancer 1.200 4.9e-04
pancreatic cancer 1.100 2.2e-03
malignant mesothelioma 1.500 1.4e-06
glioblastoma 2.800 8.8e-03
osteosarcoma 3.807 2.4e-07
ependymoma 1.400 1.4e-04
atypical teratoid / rhabdoid tumor 1.600 1.5e-03
medulloblastoma 1.100 3.6e-03
medulloblastoma, large-cell 1.200 3.4e-03
primitive neuroectodermal tumor 1.900 4.0e-03
ulcerative colitis -5.300 1.3e-10
juvenile dermatomyositis 1.141 5.0e-10
acute quadriplegic myopathy 1.293 1.9e-06
tuberculosis and treatment for 6 months -1.900 5.4e-05
colon cancer -4.700 8.5e-06
lung cancer -2.400 1.2e-04
active Crohn's disease -2.640 1.6e-02
interstitial cystitis -1.300 7.9e-04
lung adenocarcinoma -1.100 1.3e-11
pediatric high grade glioma 2.000 6.4e-04
pilocytic astrocytoma 3.000 1.8e-06
pancreatic carcinoma 1.100 2.2e-03
psoriasis -1.500 1.2e-08
invasive ductal carcinoma 1.100 2.5e-02
Pick disease 2.600 2.1e-04
Breast cancer -1.200 1.3e-04
acute myeloid leukemia -1.600 6.7e-03
ovarian cancer 2.600 1.5e-05

Protein-protein Interaction (2)

Gene RIF (25)

PMID Text
26375458 slc26a2 is to be a critical otic gene whose dysfunction may induce hearing impairment
26077908 findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine
24591336 Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
24222123 Up-regulation of SLC26A2 is associated with colorectal cancer.
23840040 A compound heterozygote SLC26A2 mutation is associated with robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia
23453247 SLC13A4 and SLC26A2 were the most abundant sulfate transporter mRNAs, which localized to syncytiotrophoblast and cytotrophoblast cells, respectively.
22190686 Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated b
21922596 73% of autosomal-recessive multiple epiphyseal dysplasia patients were either homozygous, or compound heterozygous, for SLC26A2 mutations.
21155763 Mutations in the SLC26A2 gene causes diastrophic dysplasia.
21077204 New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene is reported.
21077202 Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, gene mutations appear to cause a phenotypic continuum. DTDST genotype alone is an imperfect predictor of clinical severity along this continuum.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20460514 Diminished DTDST expression through epigenetic silencing is associated with colon cancer.
20219950 Characterize transport of oxalate and sulfate by human SLC26A2 and mouse Slc26a2 expressed in Xenopus oocytes.
19371798 Observational study of gene-disease association. (HuGE Navigator)
18708426 A novel SLC26A2 mutation was found in all subjects, inserted by site-directed mutagenesis in a vector harbouring the SLC26A2 cDNA, and expressed in sulfate transport deficient Chinese hamster ovary (CHO) cells to measure sulfate uptake activity
18056413 DTDST is upregulated by dexamethasone stimulation of HT1080 fibrosarcoma cells and is required for fibronectin (FN) extracellular matrix deposition by these cells.
17393463 Observational study of gene-disease association. (HuGE Navigator)
17393463 This study found an association between single nucleotide polymorphisms of the SLC26A2 gene and juvenile idiopathic arthritis.
16719839 The effects of sulfur availablility on proteoglycan sulfation in mice transgenic for a mutation of this gene are reported.
15523498 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
14692227 DTDST function is crucial for the uptake of extracellular sulfate required for proteoglycan sulfation.
12193993 Observational study of gene-disease association. (HuGE Navigator)
11834742 Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (SLC26A7).(SLC26A8).(SLC26A9) three entries
11558903 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFV      1 - 70
IKKLQKNCQCSPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYG     71 - 140
LYTSFFASIIYFLLGTSRHISVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDR    141 - 210
ICDKSCYAIMVGSTVTFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRT    211 - 280
NGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKELNEHFKSKLKAPIPIELVVVVAATLASHFG    281 - 350
KLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSLSEMFAKKHGYTVKANQEMYA    351 - 420
IGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQKSVLGVITIVN    421 - 490
LRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES    491 - 560
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGG    561 - 630
IQDEMSVQLSHDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYC    631 - 700
KKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLSLSSD                                   701 - 739
//

Text Mined References (44)

PMID Year Title
26375458 2015 Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
26077908 2015 Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
24647542 2014 N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins.
24591336 2014 Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
24222123 2013 Differential expression and prognostic role of selected genes in colorectal cancer patients.
23840040 2013 A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23453247 2013 Human placental sulfate transporter mRNA profiling from term pregnancies identifies abundant SLC13A4 in syncytiotrophoblasts and SLC26A2 in cytotrophoblasts.
22190686 2012 Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.
21922596 2012 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
21155763 2011 Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
21077204 2010 New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20460514 2010 Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells.
20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
19371798 2009 The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis.
18708426 2008 A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18056413 2007 Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17393463 2007 Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16719839 2006 In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation.
15523498 2005 Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14692227 In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
12966518 2003 Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12193993 2002 Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?
11834742 2002 Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9.
11581495 2001 Physiological roles and regulation of mammalian sulfate transporters.
11558903 2001 Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
11457925 2001 SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types.
11087667 2000 Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
10466420 1999 Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
9822202 1998 Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
9575183 1998 Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.
8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
8528239 1996 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
7923357 1994 The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
1783404 1991 A linkage map spanning the locus for diastrophic dysplasia (DTD).