Property Summary

NCBI Gene PubMed Count 26
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 3.6e-02
ependymoma -1.900 2.0e-02
glioblastoma -2.000 2.8e-03
sonic hedgehog group medulloblastoma -1.800 5.5e-07
atypical teratoid / rhabdoid tumor -1.900 9.0e-06
medulloblastoma, large-cell -2.500 1.8e-05
intraductal papillary-mucinous neoplasm ... 1.200 3.3e-02
lung cancer -1.200 3.8e-02
adult high grade glioma -1.600 6.9e-06
Pick disease -1.300 1.8e-02
Breast cancer -1.200 9.1e-04
ovarian cancer 1.200 3.0e-03

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.
21171650 This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane.
20395263 Analysis identified an in-frame 9 base pair deletion in the solute carrier family 9, isoform A6 (SLC9A6 gene), which encodes sodium/hydrogen exchanger-6 localized to endosomal vesicles.
20364249 NHE6 with alanine substitutions in the membrane-proximal region exhibited no apparent change in localization.
20130086 NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells
19619532 NHE6 participates in regulation of endosomal pH and provides a basis for understanding loss of NHE6 function leading to a phenotype resembling Angelman syndrome.
19471312 Observational study of gene-disease association. (HuGE Navigator)
18976975 Knockdown of solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18342287 Mutations in SLC9A6 cause X-linked mental retardation;males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.
18057008 distribution of NHE6 between endosomes and plasma membrane is regulated by RACK1
11940519 results suggest that NHE6 is an endosomal Na(+)/H(+) exchanger that may regulate intravesicular pH and volume and contribute to lysosomal biogenesis

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.
21812100 2011 A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
21413028 2011 High capacity Na+/H+ exchange activity in mineralizing osteoblasts.
21171650 2011 Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.
20395263 2010 A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
20364249 2010 A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes.
20130086 2010 The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.
19619532 2009 Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.
19471312 2009 Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18342287 2008 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
18057008 2008 Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.
17370265 2007 Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11940519 2002 Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria.
11707463 2002 A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.
11641397 2001 NHE6 protein possesses a signal peptide destined for endoplasmic reticulum membrane and localizes in secretory organelles of the cell.
11279194 2001 Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network.
10528855 1999 X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
9507001 1998 Identification of a mitochondrial Na+/H+ exchanger.
9039502 1996 Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.