Property Summary

NCBI Gene PubMed Count 44
Grant Count 41
R01 Count 15
Funding $3,861,829.75
PubMed Score 275.46
PubTator Score 134.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (57)

Disease Z-score Confidence
Diastrophic dysplasia 21 8.225 4.0
Atelosteogenesis 4 6.929 3.5
Achondrogenesis 6 6.792 3.4
Multiple epiphyseal dysplasia 12 6.686 3.3
Blount's disease 3 4.714 2.4
Clubfoot 35 4.654 2.3
Desbuquois dysplasia 9 4.486 2.2
Pseudoachondroplasia 11 4.464 2.2
Achondroplasia 20 4.17 2.1
Spondyloepiphyseal dysplasia congenita 3 4.045 2.0
Spondyloepiphyseal dysplasia with congen... 12  3.72 1.9
Spina bifida occulta 7 3.702 1.9
Cleft palate 125 3.683 1.8
Asphyxiating thoracic dystrophy 32 3.436 1.7
Boomerang dysplasia 3 3.434 1.7
Nonsyndromic deafness 121 3.355 1.7
Otosclerosis 13 3.328 1.7
Scoliosis 40 3.275 1.6
Pycnodysostosis 5 3.188 1.6
Cerebellopontine angle tumor 1 3.067 1.5
Achondrogenesis, type IB (disorder) 1
Atelosteogenesis type 2 1
Bone Diseases, Developmental 25
Breast cancer 3,094
Craniofacial Abnormalities 147
De La Chapelle Dysplasia 1
Diastrophic Dysplasia, Broad Bone-Platys... 1 
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 1
Ear Diseases 1
Kyphosis deformity of spine 5
Pick disease 1,893
active Crohn's disease 918
acute myeloid leukemia 780
acute quadriplegic myopathy 1,157
atypical teratoid / rhabdoid tumor 4,369
colon cancer 1,475
ependymoma 2,514
gastric cancer 430
glioblastoma 5,572
interstitial cystitis 2,299
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
lung adenocarcinoma 2,713
lung cancer 4,466
malignant mesothelioma 3,162
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031
psoriasis 6,685
tuberculosis and treatment for 6 months 686
ulcerative colitis 2,087

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

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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