Property Summary

NCBI Gene PubMed Count 44
PubMed Score 275.46
PubTator Score 134.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
lung adenocarcinoma 2714 1.26235259776356E-11
ulcerative colitis 2087 1.29799608258012E-10
juvenile dermatomyositis 1189 5.04597217614422E-10
psoriasis 6685 1.21569365917728E-8
osteosarcoma 7933 2.42104745287059E-7
malignant mesothelioma 3163 1.40420249908513E-6
pilocytic astrocytoma 3086 1.78330009938315E-6
acute quadriplegic myopathy 1157 1.85393418305903E-6
colon cancer 1475 8.48844906420833E-6
ovarian cancer 8492 1.45085379269234E-5
tuberculosis and treatment for 6 months 686 5.39516089292668E-5
lung cancer 4473 1.16853052443471E-4
Breast cancer 3099 1.32521960023866E-4
ependymoma 2514 1.36162129673563E-4
Pick disease 1893 2.06301942147616E-4
gastric cancer 436 4.94427407791936E-4
pediatric high grade glioma 2712 6.42053621345628E-4
interstitial cystitis 2299 7.87339685092601E-4
atypical teratoid / rhabdoid tumor 4369 0.00148098867036447
pancreatic carcinoma 567 0.00223224530286677
pancreatic cancer 2300 0.00223224530286685
medulloblastoma, large-cell 6234 0.00342010763317516
medulloblastoma 1524 0.00360911098088298
primitive neuroectodermal tumor 3031 0.00401412574555191
acute myeloid leukemia 785 0.00670317823586389
glioblastoma 5572 0.00881963075753245
active Crohn's disease 918 0.0158304748657523
invasive ductal carcinoma 2950 0.0249042025092654
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 0.000
pancreatic cancer 1.100 0.002
malignant mesothelioma 1.500 0.000
glioblastoma 2.800 0.009
osteosarcoma 3.807 0.000
ependymoma 1.400 0.000
atypical teratoid / rhabdoid tumor 1.600 0.001
medulloblastoma 1.100 0.004
medulloblastoma, large-cell 1.200 0.003
primitive neuroectodermal tumor 1.900 0.004
ulcerative colitis -5.300 0.000
juvenile dermatomyositis 1.141 0.000
acute quadriplegic myopathy 1.293 0.000
tuberculosis and treatment for 6 months -1.900 0.000
colon cancer -4.700 0.000
lung cancer -2.400 0.000
active Crohn's disease -2.640 0.016
interstitial cystitis -1.300 0.001
lung adenocarcinoma -1.100 0.000
pediatric high grade glioma 2.000 0.001
pilocytic astrocytoma 3.000 0.000
pancreatic carcinoma 1.100 0.002
psoriasis -1.500 0.000
invasive ductal carcinoma 1.100 0.025
Pick disease 2.600 0.000
Breast cancer -1.200 0.000
acute myeloid leukemia -1.600 0.007
ovarian cancer 2.600 0.000

Synonym

Accession P50443 A8K2U3 B2R6J1 Q6N051
Symbols DTD
EDM4
DTDST
MST153
D5S1708
MSTP157

Gene

PANTHER Protein Class (1)

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid

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.
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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.
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