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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

Additional gene information for SLC9A8 Gene

No data available for CIViC summary , 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
GH20H050269 2.1 FANTOM5 Ensembl ENCODE dbSUPER 37 +465.9 465865 19 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A YBX1 FEZF1 CEBPB SLC9A8 DPM1 ADNP PTPN1 SNAI1 LINC01270 ENSG00000232043 SMIM25 LINC01273
GH20H049762 2.1 FANTOM5 Ensembl ENCODE dbSUPER 36.9 -42.5 -42465 14 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A MEF2D SLC9A8 SNAI1 DDX27 B4GALT5 CEBPB RNU6-919P ZNFX1 ARFGEF2 KCNB1 KRT18P4
GH20H049671 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 33.5 -135.6 -135571 11 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 FOS SLC9A8 B4GALT5 DDX27 RNF114 ZNFX1 RNU6-919P ENSG00000232043 SNAI1 ARFGEF2 TMEM189
GH20H050301 2.1 FANTOM5 Ensembl ENCODE dbSUPER 35 +495.2 495238 12 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 CEBPB SLC9A8 ADNP PTPN1 LINC01270 DPM1 ENSG00000232043 SNAI1 PSMD10P1 MIR645
GH20H050140 2.1 FANTOM5 Ensembl ENCODE dbSUPER 29 +335.0 335007 14 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZBTB7B SNAI1 SLC9A8 DDX27 LINC01273 ADNP B4GALT5 DPM1 PTPN1 MOCS3 CEBPB
- 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
ENSR00000138334 287 1201 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1

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

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

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 TAS,IBA --
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

CRISPR Products

Inhibitory RNA 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 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

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: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:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

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

Primer Products

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 33 34
  • 99.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC9A8 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A8 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A8 33 34
  • 93.97 (n)
cow
(Bos Taurus)
Mammalia SLC9A8 33 34
  • 92.39 (n)
mouse
(Mus musculus)
Mammalia Slc9a8 33 16 34
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a8 33
  • 87.63 (n)
chicken
(Gallus gallus)
Aves SLC9A8 33 34
  • 81.24 (n)
lizard
(Anolis carolinensis)
Reptilia SLC9A8 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a8 33
  • 78.65 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a8 33 34
  • 76.69 (n)
wufj61b02 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009446 33
  • 58.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nhe1 33 34
  • 58.08 (n)
worm
(Caenorhabditis elegans)
Secernentea nhx-8 33 34
  • 51.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NHX6 33
  • 46.45 (n)
rice
(Oryza sativa)
Liliopsida Os09g0286400 33
  • 46.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5713 33
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
rs1000026014 -- 49,836,416(+) GCAAC(C/T)GCCGC intron-variant
rs1000107150 -- 49,834,737(+) GCTTG(A/G)GCAAT intron-variant
rs1000109220 -- 49,813,216(+) AAACC(A/G)TATTT intron-variant
rs1000120684 -- 49,823,947(+) ATTGC(C/T)TGGTA intron-variant
rs1000133487 -- 49,857,613(+) CTCGA(A/G)AGGCT 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 (The Journal of biological chemistry 2005) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  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 60
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60

Products for SLC9A8 Gene

Sources for SLC9A8 Gene

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