SLC9A6 (solute carrier family 9 member A6)

2019-04-01  

Identity

HGNC
LOCATION
Xq26.3
LOCUSID
ALIAS
MRSA,NHE6

Other Information

Locus ID:

NCBI: 10479
MIM: 300231
HGNC: 11079
Ensembl: ENSG00000198689

Variants:

dbSNP: 10479
ClinVar: 10479
TCGA: ENSG00000198689
COSMIC: SLC9A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198689ENST00000370695Q92581
ENSG00000198689ENST00000370698Q92581
ENSG00000198689ENST00000370701Q92581
ENSG00000198689ENST00000627534A0A0D9SFM4
ENSG00000198689ENST00000630721A0A0D9SGH0
ENSG00000198689ENST00000636092Q92581
ENSG00000198689ENST00000636206A0A1B0GW29
ENSG00000198689ENST00000636347Q92581
ENSG00000198689ENST00000637195A0A1B0GV11
ENSG00000198689ENST00000637234Q92581
ENSG00000198689ENST00000637581Q92581
ENSG00000198689ENST00000638078A0A1B0GTT2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium/Proton exchangersREACTOMER-HSA-425986

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27745ELF2GenePathwayassociated

References

Pubmed IDYearTitleCitations
183422872008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.73
258180412015Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.53
119405192002Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria.44
211716502011Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.34
203952632010A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.32
180570082008Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.27
250442512014Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.27
235081272014Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.23
201300862010The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.22
218810042011Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin.22

Citation

Dessen P

SLC9A6 (solute carrier family 9 member A6)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57930/slc9a6