UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE9
HGNC Symbol:SLC9A9
HGNC Description:solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
HGNC ID:20653
Superfamily:SLC
Chromosome:Chr.3(-): 142984063-143567373 GRCh37
Location:3q24
OMIM:608396
OMIM Phenotype:None
Accessions:BC035779
Nucleotide RefSeq:NM_173653
Protein RefSeq:NP_775924
Entrez:285195
Ensembl:ENSG00000181804
Isoforms:2
Evidence:Substrate In Vivo Evidence: 1. An inversion of chromosome 3 cosegregates with an early onset behavioral/developmental condition. This inversion disrupts an intron of SLC9A9 and an intron of the DOCK3 (dedicator of cytokinesis 3) gene. These two genes are candidates for involvement in this neuropsychological condition. De Silva, MG et al. J Med Genet 2003 Oct, 40(10):733-40 PMID 14569117.
Tissues:None
Type:protein-coding
Sets:0
PharmGKB ID:PA134889062
HPRD ID:12226
Substrates:Na+, H+
Trivial Names:NHE9, AUTS16
Transcripts:NM_173653.3 [Chr.3(-): 142984064-143567373 GRCh37]
XM_005247375.1 [Chr.3(-): 142984063-143374483 GRCh37]
ENST00000316549 [Chr.3(-): 142984064-143567373 GRCh37]
ENST00000474151 [Chr.3(-): 143513855-143567300 GRCh37]
ENST00000474727 [Chr.3(-): 143412052-143567327 GRCh37]
ENST00000483124 [Chr.3(-): 143271261-143416991 GRCh37]
ENST00000498717 [Chr.3(-): 143566436-143567311 GRCh37]
Annotation History:View Events (10)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC9A9.

Variant Data

View all PMT variants for SLC9A9 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.