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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
  • 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
  • Sodium/Hydrogen Exchanger 8 3
  • 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 Proximal Renal Tubular Acidosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include solute:proton antiporter activity and potassium:proton antiporter activity. An important paralog of this gene is SLC9A9.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A8 Gene

Genomics for SLC9A8 Gene

Regulatory Elements for SLC9A8 Gene

Enhancers for SLC9A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F049762 1.9 FANTOM5 Ensembl ENCODE 45.5 -42.5 -42465 14.7 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SLC9A8 SNAI1 B4GALT5 CEBPB RNU6-919P ZNFX1 PTGIS LINC01273 PTPN1 KCNB1
GH20F049689 1.8 FANTOM5 Ensembl ENCODE 40 -115.6 -115613 15.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 SLC30A9 SLC9A8 SNAI1 B4GALT5 ZNFX1 RNF114 RNU6-919P CEBPB LINC01273 TMEM189 GC20M049705
GH20F049666 2.1 VISTA FANTOM5 Ensembl ENCODE 33.7 -137.8 -137817 16.2 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 SLC9A8 B4GALT5 RNF114 ZNFX1 RNU6-919P ENSG00000232043 SNAI1 LINC01273 ARFGEF2 SPATA2
GH20F050218 1.7 FANTOM5 Ensembl ENCODE 40.1 +410.5 410488 10.0 HDGF PKNOX1 ZFP64 SIN3A YBX1 YY1 ZNF143 ZNF207 FOS TBX21 SLC9A8 CEBPB SNAI1 LINC01273 PSMD10P1 PTPN1 DPM1 RNF114 ENSG00000232043 MIR645
GH20F050265 1.8 FANTOM5 Ensembl ENCODE 37 +464.2 464166 22.6 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 CEBPB SLC9A8 PTPN1 SNAI1 LINC01270 DPM1 ENSG00000232043 PSMD10P1 LINC01272 ENSG00000199490
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC9A8 on UCSC Golden Path with GeneCards custom track

Promoters for SLC9A8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010018 387 1401 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for SLC9A8 Gene

Chromosome:
20
Start:
49,812,713 bp from pter
End:
49,892,242 bp from pter
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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC9A8

No data available for DME Specific Peptides for SLC9A8 Gene

Domains & Families for SLC9A8 Gene

Gene Families for SLC9A8 Gene

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.

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 TAS --
GO:0015386 potassium:proton antiporter activity IEA,IBA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A8

Inhibitory RNA Products

Flow Cytometry 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
golgi apparatus 5
plasma membrane 4
endosome 1

Gene Ontology (GO) - Cellular Components for SLC9A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IBA --
GO:0005886 NOT plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9A8: view

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:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion 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
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC9A8: view

Transcripts for SLC9A8 Gene

Unigene Clusters for SLC9A8 Gene

Solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for SLC9A8 Gene



Protein tissue co-expression partners for SLC9A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9A8 Gene:

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.
genes like me logo Genes that share expression patterns with SLC9A8: view

Primer Products

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 34 35
  • 99.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC9A8 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A8 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A8 34 35
  • 93.97 (n)
cow
(Bos Taurus)
Mammalia SLC9A8 34 35
  • 92.39 (n)
mouse
(Mus musculus)
Mammalia Slc9a8 34 16 35
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a8 34
  • 87.63 (n)
chicken
(Gallus gallus)
Aves SLC9A8 34 35
  • 81.24 (n)
lizard
(Anolis carolinensis)
Reptilia SLC9A8 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a8 34
  • 78.65 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a8 34 35
  • 76.69 (n)
wufj61b02 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009446 34
  • 58.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nhe1 34 35
  • 58.08 (n)
worm
(Caenorhabditis elegans)
Secernentea nhx-8 34 35
  • 51.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 35
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NHX6 34
  • 46.45 (n)
rice
(Oryza sativa)
Liliopsida Os09g0286400 34
  • 46.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5713 34
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)

Paralogs for SLC9A8 Gene

Paralogs for SLC9A8 Gene

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

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

Variants for SLC9A8 Gene

Sequence variations from dbSNP and Humsavar for SLC9A8 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1033474 -- 49,871,320(-) ATAAA(A/G)GAAGA intron-variant
rs10531491 -- 49,857,818(+) GTTTT(-/CAC)CACAT intron-variant
rs1062840 -- 49,888,929(+) TACCA(C/T)GTTGG nc-transcript-variant, utr-variant-3-prime
rs10632372 -- 49,847,907(+) ATCTG(-/T/TT/TTT)TTTTT intron-variant
rs11086296 -- 49,834,430(+) ATATA(-/TATA)CTGTA intron-variant

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)

Relevant External Links for SLC9A8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A8 Gene

Disorders for SLC9A8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC9A8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
proximal renal tubular acidosis
  • renal tubular acidosis type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC9A8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 2005) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Renal expression of novel Na+/H+ exchanger isoform NHE8. (PMID: 12409279) Goyal S. … Aronson P.S. (Am. J. Physiol. Renal Physiol. 2003) 2 3 64
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for SLC9A8 Gene

Sources for SLC9A8 Gene

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