Human Gene SLC9A8 (ENST00000361573.3_4) from GENCODE V47lift37
  Description: solute carrier family 9 member A8, transcript variant 6 (from RefSeq NR_048540.2)
Gencode Transcript: ENST00000361573.3_4
Gencode Gene: ENSG00000197818.12_7
Transcript (Including UTRs)
   Position: hg19 chr20:48,429,365-48,508,779 Size: 79,415 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr20:48,429,460-48,504,473 Size: 75,014 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:48,429,365-48,508,779)mRNA (may differ from genome)Protein (581 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SL9A8_HUMAN
DESCRIPTION: RecName: Full=Sodium/hydrogen exchanger 8; AltName: Full=Na(+)/H(+) exchanger 8; Short=NHE-8; AltName: Full=Solute carrier family 9 member 8;
FUNCTION: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Ubiquitous. Strongly expressed in skeletal muscle and kidney.
SIMILARITY: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
SEQUENCE CAUTION: Sequence=BAA76783.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC9A8
Diseases sorted by gene-association score: proximal renal tubular acidosis (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.51 RPKM in Whole Blood
Total median expression: 299.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.3095-0.424 Picture PostScript Text
3' UTR -1729.404306-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006153 - Cation/H_exchanger
IPR018422 - Cation/H_exchanger_CPA1
IPR018409 - Na/H_exchanger_8_eu
IPR004709 - NaH_exchanger

Pfam Domains:
PF00999 - Sodium/hydrogen exchanger family

ModBase Predicted Comparative 3D Structure on Q9Y2E8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015297 antiporter activity
GO:0015299 solute:proton antiporter activity
GO:0015385 sodium:proton antiporter activity
GO:0015386 potassium:proton antiporter activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0006885 regulation of pH
GO:0035725 sodium ion transmembrane transport
GO:0051453 regulation of intracellular pH
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:1902600 hydrogen ion transmembrane transport
GO:0098719 sodium ion import across plasma membrane

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF383777 - JP 2014500723-A/191280: Polycomb-Associated Non-Coding RNAs.
AK300318 - Homo sapiens cDNA FLJ54884 complete cds, highly similar to Sodium/hydrogen exchanger 8.
CR749638 - Homo sapiens mRNA; cDNA DKFZp686C03237 (from clone DKFZp686C03237).
AB023156 - Homo sapiens KIAA0939 mRNA for KIAA0939 protein.
BC112213 - Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8, mRNA (cDNA clone MGC:138418 IMAGE:8327681), complete cds.
AK295803 - Homo sapiens cDNA FLJ61281 complete cds, highly similar to Sodium/hydrogen exchanger 8.
AK308328 - Homo sapiens cDNA, FLJ98276.
AK310530 - Homo sapiens cDNA, FLJ17572.
AK295665 - Homo sapiens cDNA FLJ61631 complete cds, highly similar to Sodium/hydrogen exchanger 8.
AK295822 - Homo sapiens cDNA FLJ50014 complete cds, highly similar to Sodium/hydrogen exchanger 8.
AB384051 - Synthetic construct DNA, clone: pF1KSDA0939, Homo sapiens SLC9A8 gene for solute carrier family 9, member 8, complete cds, without stop codon, in Flexi system.
KJ898472 - Synthetic construct Homo sapiens clone ccsbBroadEn_07866 SLC9A8 gene, encodes complete protein.
AL833574 - Homo sapiens mRNA; cDNA DKFZp686D0256 (from clone DKFZp686D0256).
MA619354 - JP 2018138019-A/191280: Polycomb-Associated Non-Coding RNAs.
JD129614 - Sequence 110638 from Patent EP1572962.
AK131001 - Homo sapiens cDNA FLJ27491 fis, clone STM02744.
JD023687 - Sequence 4711 from Patent EP1572962.
DQ570443 - Homo sapiens piRNA piR-30555, complete sequence.
AK124491 - Homo sapiens cDNA FLJ42500 fis, clone BRACE2037132.
JD339223 - Sequence 320247 from Patent EP1572962.
JD455636 - Sequence 436660 from Patent EP1572962.
JD101469 - Sequence 82493 from Patent EP1572962.
JD538451 - Sequence 519475 from Patent EP1572962.
JD470552 - Sequence 451576 from Patent EP1572962.
JD459520 - Sequence 440544 from Patent EP1572962.
JD376533 - Sequence 357557 from Patent EP1572962.
JD235027 - Sequence 216051 from Patent EP1572962.
JD189836 - Sequence 170860 from Patent EP1572962.
JD204144 - Sequence 185168 from Patent EP1572962.
JD109122 - Sequence 90146 from Patent EP1572962.
JD511729 - Sequence 492753 from Patent EP1572962.
JD449433 - Sequence 430457 from Patent EP1572962.
JD354313 - Sequence 335337 from Patent EP1572962.
JD566241 - Sequence 547265 from Patent EP1572962.
JD285927 - Sequence 266951 from Patent EP1572962.
JD186185 - Sequence 167209 from Patent EP1572962.
JD407852 - Sequence 388876 from Patent EP1572962.
JD479948 - Sequence 460972 from Patent EP1572962.
JD423985 - Sequence 405009 from Patent EP1572962.
JD199247 - Sequence 180271 from Patent EP1572962.
JD070681 - Sequence 51705 from Patent EP1572962.
JD524012 - Sequence 505036 from Patent EP1572962.
JD227691 - Sequence 208715 from Patent EP1572962.
JD192637 - Sequence 173661 from Patent EP1572962.
JD232720 - Sequence 213744 from Patent EP1572962.
JD548356 - Sequence 529380 from Patent EP1572962.
JD060224 - Sequence 41248 from Patent EP1572962.
JD456048 - Sequence 437072 from Patent EP1572962.
JD513686 - Sequence 494710 from Patent EP1572962.
JD119511 - Sequence 100535 from Patent EP1572962.
JD038337 - Sequence 19361 from Patent EP1572962.
JD519434 - Sequence 500458 from Patent EP1572962.
JD420465 - Sequence 401489 from Patent EP1572962.
JD173122 - Sequence 154146 from Patent EP1572962.
JD205413 - Sequence 186437 from Patent EP1572962.
JD100613 - Sequence 81637 from Patent EP1572962.
JD401073 - Sequence 382097 from Patent EP1572962.
JD390408 - Sequence 371432 from Patent EP1572962.
JD220109 - Sequence 201133 from Patent EP1572962.
JD547003 - Sequence 528027 from Patent EP1572962.
JD048584 - Sequence 29608 from Patent EP1572962.
JD113500 - Sequence 94524 from Patent EP1572962.
JD358101 - Sequence 339125 from Patent EP1572962.
JD273522 - Sequence 254546 from Patent EP1572962.
JD113501 - Sequence 94525 from Patent EP1572962.
JD309487 - Sequence 290511 from Patent EP1572962.
JD451271 - Sequence 432295 from Patent EP1572962.
JD131822 - Sequence 112846 from Patent EP1572962.
JD382841 - Sequence 363865 from Patent EP1572962.
JD075471 - Sequence 56495 from Patent EP1572962.
JD439822 - Sequence 420846 from Patent EP1572962.
JD248230 - Sequence 229254 from Patent EP1572962.
JD453004 - Sequence 434028 from Patent EP1572962.
JD090613 - Sequence 71637 from Patent EP1572962.
JD283565 - Sequence 264589 from Patent EP1572962.
JD404119 - Sequence 385143 from Patent EP1572962.
JD433053 - Sequence 414077 from Patent EP1572962.
JD064220 - Sequence 45244 from Patent EP1572962.
JD537029 - Sequence 518053 from Patent EP1572962.
JD391082 - Sequence 372106 from Patent EP1572962.
JD413619 - Sequence 394643 from Patent EP1572962.
AL049469 - Homo sapiens mRNA; cDNA DKFZp586H052 (from clone DKFZp586H052).
JD190710 - Sequence 171734 from Patent EP1572962.
JD078499 - Sequence 59523 from Patent EP1572962.
JD541010 - Sequence 522034 from Patent EP1572962.
JD208073 - Sequence 189097 from Patent EP1572962.
JD388312 - Sequence 369336 from Patent EP1572962.
JD522652 - Sequence 503676 from Patent EP1572962.
JD473754 - Sequence 454778 from Patent EP1572962.
JD503295 - Sequence 484319 from Patent EP1572962.
JD083853 - Sequence 64877 from Patent EP1572962.
JD556676 - Sequence 537700 from Patent EP1572962.
JD288019 - Sequence 269043 from Patent EP1572962.
JD088486 - Sequence 69510 from Patent EP1572962.
DL491899 - Novel nucleic acids.
JD045193 - Sequence 26217 from Patent EP1572962.
DL490462 - Novel nucleic acids.
JD462087 - Sequence 443111 from Patent EP1572962.
JD516326 - Sequence 497350 from Patent EP1572962.
DQ586527 - Homo sapiens piRNA piR-53639, complete sequence.
JD082835 - Sequence 63859 from Patent EP1572962.
JD108634 - Sequence 89658 from Patent EP1572962.
JD210419 - Sequence 191443 from Patent EP1572962.
JD411566 - Sequence 392590 from Patent EP1572962.
JD376205 - Sequence 357229 from Patent EP1572962.
JD119572 - Sequence 100596 from Patent EP1572962.
JD225191 - Sequence 206215 from Patent EP1572962.
JD179546 - Sequence 160570 from Patent EP1572962.
JD164935 - Sequence 145959 from Patent EP1572962.
JD231588 - Sequence 212612 from Patent EP1572962.
JD213559 - Sequence 194583 from Patent EP1572962.
JD435654 - Sequence 416678 from Patent EP1572962.
DQ585974 - Homo sapiens piRNA piR-53086, complete sequence.
JD109396 - Sequence 90420 from Patent EP1572962.
JD152416 - Sequence 133440 from Patent EP1572962.
JD256938 - Sequence 237962 from Patent EP1572962.
JD313008 - Sequence 294032 from Patent EP1572962.
JD190296 - Sequence 171320 from Patent EP1572962.
JD097557 - Sequence 78581 from Patent EP1572962.
JD127839 - Sequence 108863 from Patent EP1572962.
JD217215 - Sequence 198239 from Patent EP1572962.
JD269848 - Sequence 250872 from Patent EP1572962.
JD192702 - Sequence 173726 from Patent EP1572962.
JD392883 - Sequence 373907 from Patent EP1572962.
JD309108 - Sequence 290132 from Patent EP1572962.
JD528363 - Sequence 509387 from Patent EP1572962.
JD436772 - Sequence 417796 from Patent EP1572962.
JD170356 - Sequence 151380 from Patent EP1572962.
JD061508 - Sequence 42532 from Patent EP1572962.
JD240789 - Sequence 221813 from Patent EP1572962.
JD566687 - Sequence 547711 from Patent EP1572962.
JD525446 - Sequence 506470 from Patent EP1572962.
JD075734 - Sequence 56758 from Patent EP1572962.
JD428650 - Sequence 409674 from Patent EP1572962.
JD090473 - Sequence 71497 from Patent EP1572962.
JD544230 - Sequence 525254 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2E8 (Reactome details) participates in the following event(s):

R-HSA-426015 Na+/H+ exchanger transport (at trans-golgi membrane)
R-HSA-425986 Sodium/Proton exchangers
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B4DTQ8, ENST00000361573.1, ENST00000361573.2, KIAA0939, NHE8, NR_048540, Q2M1U9, Q68CZ8, Q9BX15, Q9Y2E8, Q9Y507, SL9A8_HUMAN, SLC9A8 , uc318cel.1, uc318cel.2
UCSC ID: ENST00000361573.3_4
RefSeq Accession: NM_015266.3
Protein: Q9Y2E8 (aka SL9A8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.