Property Summary

NCBI Gene PubMed Count 26
Grant Count 16
R01 Count 11
Funding $1,682,355.2
PubMed Score 70.39
PubTator Score 66.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -1.200 0.036
ependymoma -1.900 0.020
glioblastoma -2.000 0.003
sonic hedgehog group medulloblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -1.900 0.000
medulloblastoma, large-cell -2.500 0.000
intraductal papillary-mucinous neoplasm ... 1.200 0.033
lung cancer -1.200 0.038
adult high grade glioma -1.600 0.000
Pick disease -1.300 0.018
Breast cancer -1.200 0.001
ovarian cancer 1.200 0.003

Gene RIF (20)

PMID Text
25818041 Epileptic encephalopathy related to mutations in the SLC9A6 genes.
25561733 Data show that co-expression with sodium-hydrogen antiporter NHE6 or treatment with the Na(+)/H(+) ionophore monensin shifted amyloid precursor protein (APP) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells.
25044251 This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
24874739 EIPA, a potent and specific inhibitor of Na+/H+ exchanger activity, significantly inhibits the Nef internalization into M2-macrophages, indicating that Nef is imported by Na+/H+ exchanger (solute carrier family 9, subfamily A)
23508127 find interesting gene expression changes in endosomal NHE6 and NHE9 in postmortem autism brains.
22931061 Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis.
22541666 We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6
21881004 These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin via pH regulation.
21812100 The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (AS) but found on genetic testing not to have AS (AS-like cohort), and 104 male patients with X-linked mental retardation (XMR) (XMR cohort), was investigated.
21413028 In mineralizing osteoblasts, slightly basic basal intracellular pH is maintained, and external acid load is dissipated, by high-capacity Na(+) /H(+) exchange via NHE1 and NHE6.
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AA Sequence

MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSEKQAEESHRQD      1 - 70
SANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGIHVPSDVNNVTLSCEVQSSPT     71 - 140
TLLVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVTGQ    141 - 210
LAGDFYFTDCLLFGAIVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSSSIVAYQPAGDNS    211 - 280
HTFDVTAMFKSIGIFLGIFSGSFAMGAATGVVTALVTKFTKLREFQLLETGLFFLMSWSTFLLAEAWGFT    281 - 350
GVVAVLFCGITQAHYTYNNLSTESQHRTKQLFELLNFLAENFIFSYMGLTLFTFQNHVFNPTFVVGAFVA    351 - 420
IFLGRAANIYPLSLLLNLGRRSKIGSNFQHMMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTV    421 - 490
WVFGGGTTAMLSCLHIRVGVDSDQEHLGVPENERRTTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTT    491 - 560
LPACCGPIARCLTSPQAYENQEQLKDDDSDLILNDGDISLTYGDSTVNTEPATSSAPRRFMGNSSEDALD    561 - 630
RELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA                                   631 - 669
//

Text Mined References (33)

PMID Year Title
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25561733 2015 The Na+/H+ exchanger NHE6 modulates endosomal pH to control processing of amyloid precursor protein in a cell culture model of Alzheimer disease.
25044251 2014 Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
24035762 2013 Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.
23508127 2014 Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.
22931061 2013 Novel SLC9A6 mutations in two families with Christianson syndrome.
22541666 2013 Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
21881004 2011 Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin.
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