Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009] See more...

Aliases for SLC9A8 Gene

Aliases for SLC9A8 Gene

  • Solute Carrier Family 9 Member A8 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE8, Cation Proton Antiporter 8), Member 8 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 8 2 3
  • Sodium/Hydrogen Exchanger 8 3 4
  • Na(+)/H(+) Exchanger 8 3 4
  • NHE-8 3 4
  • NHE8 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 8 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3
  • Solute Carrier Family 9 Member 8 4
  • KIAA0939 4

External Ids for SLC9A8 Gene

Previous GeneCards Identifiers for SLC9A8 Gene

  • GC20P048117
  • GC20P049067
  • GC20P049113
  • GC20P047862
  • GC20P048429
  • GC20P045177

Summaries for SLC9A8 Gene

Entrez Gene Summary for SLC9A8 Gene

  • Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]

GeneCards Summary for SLC9A8 Gene

SLC9A8 (Solute Carrier Family 9 Member A8) is a Protein Coding gene. Diseases associated with SLC9A8 include Christianson Syndrome and Renal Tubular Acidosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity and potassium:proton antiporter activity. An important paralog of this gene is SLC9A7.

UniProtKB/Swiss-Prot Summary for SLC9A8 Gene

  • 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.

Gene Wiki entry for SLC9A8 Gene

Additional gene information for SLC9A8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A8 Gene

Genomics for SLC9A8 Gene

GeneHancer (GH) Regulatory Elements for SLC9A8 Gene

Promoters and enhancers for SLC9A8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A8

Top Transcription factor binding sites by QIAGEN in the SLC9A8 gene promoter:
  • c-Ets-1
  • Elk-1
  • Evi-1
  • LCR-F1
  • p53

Genomic Locations for SLC9A8 Gene

Genomic Locations for SLC9A8 Gene
chr20:49,812,713-49,892,242
(GRCh38/hg38)
Size:
79,530 bases
Orientation:
Plus strand
chr20:48,429,250-48,508,779
(GRCh37/hg19)
Size:
79,530 bases
Orientation:
Plus strand

Genomic View for SLC9A8 Gene

Genes around SLC9A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A8 Gene

Proteins for SLC9A8 Gene

  • Protein details for SLC9A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2E8-SL9A8_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 8
    Protein Accession:
    Q9Y2E8
    Secondary Accessions:
    • B4DTQ8
    • Q2M1U9
    • Q68CZ8
    • Q9BX15
    • Q9Y507

    Protein attributes for SLC9A8 Gene

    Size:
    581 amino acids
    Molecular mass:
    65422 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76783.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC9A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A8 Gene

Post-translational modifications for SLC9A8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC9A8 Gene

Domains & Families for SLC9A8 Gene

Gene Families for SLC9A8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC9A8 Gene

Blocks:
  • Na+/H+ exchanger signature
  • Sodium/hydrogen exchanger
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9A8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61281, highly similar to Sodium/hydrogen exchanger 8 (B4DIV9_HUMAN)
  • cDNA FLJ61631, highly similar to Sodium/hydrogen exchanger 8 (B7Z3B1_HUMAN)
  • Solute carrier family 9 member 8 (SL9A8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2E8

UniProtKB/Swiss-Prot:

SL9A8_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9A8: view

Function for SLC9A8 Gene

Molecular function for SLC9A8 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SLC9A8 Gene

Gene Ontology (GO) - Molecular Function for SLC9A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity IBA 21873635
GO:0015386 potassium:proton antiporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC9A8: view
genes like me logo Genes that share phenotypes with SLC9A8: view

Animal Models for SLC9A8 Gene

MGI Knock Outs for SLC9A8:
  • Slc9a8 Slc9a8<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A8

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC9A8 Gene

Localization for SLC9A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A8 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9A8 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC9A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005623 cell IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9A8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC9A8 Gene

Pathways & Interactions for SLC9A8 Gene

genes like me logo Genes that share pathways with SLC9A8: view

Gene Ontology (GO) - Biological Process for SLC9A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006885 regulation of pH IEA --
GO:0035725 sodium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC9A8: view

No data available for SIGNOR curated interactions for SLC9A8 Gene

Drugs & Compounds for SLC9A8 Gene

(1) Additional Compounds for SLC9A8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC9A8: view

Transcripts for SLC9A8 Gene

mRNA/cDNA for SLC9A8 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A8

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - - -
SP2: -
SP3: - - - -
SP4:
SP5:

Relevant External Links for SLC9A8 Gene

GeneLoc Exon Structure for
SLC9A8

Expression for SLC9A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC9A8 Gene

This gene is overexpressed in Whole Blood (x8.9).

Protein differential expression in normal tissues from HIPED for SLC9A8 Gene

This gene is overexpressed in Neutrophil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC9A8 Gene



Protein tissue co-expression partners for SLC9A8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A8

SOURCE GeneReport for Unigene cluster for SLC9A8 Gene:

Hs.444202

mRNA Expression by UniProt/SwissProt for SLC9A8 Gene:

Q9Y2E8-SL9A8_HUMAN
Tissue specificity: Ubiquitous. Strongly expressed in skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for SLC9A8 Gene

  • Nervous system(4.6)
  • Intestine(4.4)
  • Stomach(4.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with SLC9A8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A8 Gene

Orthologs for SLC9A8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC9A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A8 31 30
  • 99.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A8 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A8 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A8 31 30
  • 93.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A8 31 30
  • 92.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a8 17 31 30
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a8 30
  • 87.63 (n)
chicken
(Gallus gallus)
Aves SLC9A8 31 30
  • 81.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A8 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a8 30
  • 78.65 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a8 31 30
  • 76.69 (n)
OneToOne
wufj61b02 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009446 30
  • 58.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nhe1 31 30
  • 58.08 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nhx-8 31 30
  • 51.52 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 31
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NHX6 30
  • 46.45 (n)
rice
(Oryza sativa)
Liliopsida Os09g0286400 30
  • 46.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToOne
Cin.5713 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5713 30
Species where no ortholog for SLC9A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC9A8 Gene

ENSEMBL:
Gene Tree for SLC9A8 (if available)
TreeFam:
Gene Tree for SLC9A8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A8: view image

Paralogs for SLC9A8 Gene

(3) SIMAP similar genes for SLC9A8 Gene using alignment to 3 proteins:

  • SL9A8_HUMAN
  • B4DIV9_HUMAN
  • B7Z3B1_HUMAN
genes like me logo Genes that share paralogs with SLC9A8: view

Variants for SLC9A8 Gene

Additional dbSNP identifiers (rs#s) for SLC9A8 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC9A8 Gene

Variant ID Type Subtype PubMed ID
esv2722489 CNV deletion 23290073
esv2722490 CNV deletion 23290073
esv2722491 CNV deletion 23290073
esv3646017 CNV gain 21293372
esv3646034 CNV gain 21293372
esv3646036 CNV gain 21293372
esv3646037 CNV gain 21293372
nsv1131593 CNV deletion 24896259
nsv1138966 CNV deletion 24896259

Variation tolerance for SLC9A8 Gene

Residual Variation Intolerance Score: 4.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A8 Gene

Disorders for SLC9A8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC9A8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
christianson syndrome
  • mental retardation, x-linked, syndromic, christianson type
renal tubular acidosis
  • acidosis renal tubular
inflammatory diarrhea
corneal dystrophy, band-shaped
  • band keratopathy
diarrhea 1, secretory chloride, congenital
  • diar1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9A8

genes like me logo Genes that share disorders with SLC9A8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A8 Gene

Publications for SLC9A8 Gene

  1. Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation. (PMID: 15522866) Nakamura N … Kanazawa H (The Journal of biological chemistry 2005) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Renal expression of novel Na+/H+ exchanger isoform NHE8. (PMID: 12409279) Goyal S … Aronson PS (American journal of physiology. Renal physiology 2003) 2 3 54
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 54
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54

Products for SLC9A8 Gene

Sources for SLC9A8 Gene