Property Summary

NCBI Gene PubMed Count 19
Grant Count 14
R01 Count 9
Funding $987,099.58
PubMed Score 9.39
PubTator Score 93.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -3.884 0.000
posterior fossa group A ependymoma -1.700 0.000
glioblastoma -1.600 0.000
group 3 medulloblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
medulloblastoma, large-cell -1.200 0.000
primitive neuroectodermal tumor -1.900 0.000
pediatric high grade glioma -1.300 0.000
pilocytic astrocytoma -1.400 0.000
ovarian cancer 1.300 0.000

Gene RIF (10)

PMID Text
23582645 Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19221096 structural defects in sperm are not caused by abnormal transcription or point mutations of the TAT1 and SEPT4 genes; however, although both proteins are expressed, they are not properly localized at sperm annulus
19023099 Observational study of gene-disease association. (HuGE Navigator)
17975119 Observational study of gene-disease association. (HuGE Navigator)
15579655 Observational study of gene-disease association. (HuGE Navigator)
15579655 SLC26A8 mutations are not a common cause of male infertility.

AA Sequence

MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHVQCRCSWHRFL      1 - 70
RCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQLIPPLNIAYAAFCSSVIYVIF     71 - 140
GSCHQMSIGSFFLVSALLINVLKVSPFNNGQLVMGSFVKNEFSAPSYLMGYNKSLSVVATTTFLTGIIQL    141 - 210
IMGVLGLGFIATYLPESAMSAYLAAVALHIMLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTS    211 - 280
ILVFLTVVVALRINKCIRISFNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPD    281 - 350
FSLLPKIILQAFSLSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTII    351 - 420
QDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLWRQDQYDCALW    421 - 490
MMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRSINDYREIITIPGVKIFQCCS    491 - 560
SITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTNLQGGKICRCFCNCDDLEPLPRILYTERFEN    561 - 630
KLDPEASSINLIHCSHFESMNTSQTASEDQVPYTVSSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDV    631 - 700
AESQGRRSLIPYSDASLLPSVHTIILDFSMVHYVDSRGLVVLRQICNAFQNANILILIAGCHSSIVRAFE    701 - 770
RNDFFDAGITKTQLFLSVHDAVLFALSRKVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQ    771 - 840
KNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEMEPQPETEPEM    841 - 910
EPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSYSPEGNSNEDV              911 - 970
//

Publication (22)

PMID Year Title
24647542 2014 N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins.
23582645 2013 Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
22121115 2012 The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
21822266 2011 Exome sequencing supports a de novo mutational paradigm for schizophrenia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19221096 2009 Absence of annulus in human asthenozoospermia: case report.
19023099 2009 Gene variants associated with ischemic stroke: the cardiovascular health study.
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