SLC9A6 (solute carrier family 9 member A6)

2019-04-01  

Identity

HGNC
SLC9A6
LOCATION
Xq26.3
LOCUSID
10479
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27745ELF2GenePathwayassociated

References

Pubmed IDYearTitleCitations
389453112024Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease.0
389453112024Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease.0
373817362023Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.2
377471312023Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.0
377943282023Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.1
373817362023Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.2
377471312023Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.0
377943282023Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.1
333721332021SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses.8
333721332021SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses.8
322770482020Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.9
322770482020Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.9
286359612017Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance.24
286359612017Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance.24
271422132016The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.21

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-(solute-carrier-family-9-member-a6)