SLC9A7 (solute carrier family 9 member A7)

2012-04-01  

Identity

HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
MRX108,NHE-7,NHE7,SLC9A6
FUSION GENES

Other Information

Locus ID:

NCBI: 84679
MIM: 300368
HGNC: 17123
Ensembl: ENSG00000065923

Variants:

dbSNP: 84679
ClinVar: 84679
TCGA: ENSG00000065923
COSMIC: SLC9A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065923ENST00000328306Q96T83
ENSG00000065923ENST00000328306A0A024R176
ENSG00000065923ENST00000616978A0A087WXD1

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
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

References

Pubmed IDYearTitleCitations
211716502011Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.34
158406572005Secretory carrier membrane proteins interact and regulate trafficking of the organellar (Na+,K+)/H+ exchanger NHE7.21
220761282012Organellar (Na+, K+)/H+ exchanger NHE7 regulates cell adhesion, invasion and anchorage-independent growth of breast cancer MDA-MB-231 cells.7
247679892014The intracellular Na(+)/H(+) exchanger NHE7 effects a Na(+)-coupled, but not K(+)-coupled proton-loading mechanism in endocytosis.7
186549302008Identification and biochemical characterization of the SLC9A7 interactome.6
203642492010A 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.5
303351412019A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.4
281667402017Delineation of cystinuria in Saudi Arabia: A case series.1

Citation

Dessen P

SLC9A7 (solute carrier family 9 member A7)

Atlas Genet Cytogenet Oncol Haematol. 2012-04-01

Online version: http://atlasgeneticsoncology.org/gene/52687/slc9a7