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Aliases for SLC9A5 Gene

Aliases for SLC9A5 Gene

  • Solute Carrier Family 9 Member A5 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE5, Cation Proton Antiporter 5), Member 5 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 5 2 3
  • Solute Carrier Family 9 Member 5 3 4
  • Na(+)/H(+) Exchanger 5 3 4
  • NHE-5 3 4
  • NHE5 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 5 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3
  • Sodium/Hydrogen Exchanger 5 3

External Ids for SLC9A5 Gene

Previous GeneCards Identifiers for SLC9A5 Gene

  • GC16M076428
  • GC16P067660
  • GC16P067018
  • GC16P067059
  • GC16P065840
  • GC16P053155

Summaries for SLC9A5 Gene

GeneCards Summary for SLC9A5 Gene

SLC9A5 (Solute Carrier Family 9 Member A5) is a Protein Coding gene. Diseases associated with SLC9A5 include Familial Paroxysmal Kinesigenic Dyskinesia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ADP signalling through P2Y purinoceptor 12. GO annotations related to this gene include solute:proton antiporter activity and sodium:proton antiporter activity. An important paralog of this gene is SLC9A3.

UniProtKB/Swiss-Prot for SLC9A5 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 (By similarity).

Gene Wiki entry for SLC9A5 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A5 Gene

Genomics for SLC9A5 Gene

Regulatory Elements for SLC9A5 Gene

Enhancers for SLC9A5 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
GH16F066871 1.2 FANTOM5 ENCODE 2.1 -363.8 -363843 5.1 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CES2 E2F4 CA7 PLEKHG4 ENSG00000260465 FAM96B FBXL8 FHOD1 B3GNT9 LINC00920
GH16F067653 1 FANTOM5 2 +416.0 416030 0.2 KLF1 MAZ BHLHE40 REST ZIC2 OSR2 ZFHX2 GLIS2 POLR2A GLIS1 PARD6A KIAA0895L SLC9A5 HSF4 TSNAXIP1 ACD CARMIL2
GH16F067527 0.7 FANTOM5 ENCODE 1.2 +292.4 292384 4.4 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 FOS CENPT C16orf70 KIAA0895L ACD ATP6V0D1 ZDHHC1 ENKD1 ENSG00000261386 ENSG00000259804 PSMB10
GH16F067235 1.1 ENCODE 0.8 -1.1 -1117 1.7 HDGF PKNOX1 ZFP64 ZIC2 ZNF664 ZNF316 ZNF366 POLR2A NFE2 ZBTB20 ATP6V0D1 MIR328 ELMO3 LRRC36 HSD11B2 ACD PARD6A SLC9A5 TMEM208
GH16F067239 1.5 FANTOM5 ENCODE 0.4 +7.1 7052 10.3 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ATP6V0D1 RN7SKP118 LOC100131303 FHOD1 ELMO3 CENPT LRRC36 DPEP2 C16orf70 FAM65A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC9A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC9A5 Gene

Chromosome:
16
Start:
67,237,683 bp from pter
End:
67,272,191 bp from pter
Size:
34,509 bases
Orientation:
Plus strand

Genomic View for SLC9A5 Gene

Genes around SLC9A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A5 Gene

Proteins for SLC9A5 Gene

  • Protein details for SLC9A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14940-SL9A5_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 5
    Protein Accession:
    Q14940
    Secondary Accessions:
    • A5PKY7
    • Q9Y626

    Protein attributes for SLC9A5 Gene

    Size:
    896 amino acids
    Molecular mass:
    99011 Da
    Quaternary structure:
    • Interacts with CHP1 and CHP2 (By similarity). Interacts with ARRB2.

neXtProt entry for SLC9A5 Gene

Post-translational modifications for SLC9A5 Gene

No data available for DME Specific Peptides for SLC9A5 Gene

Domains & Families for SLC9A5 Gene

Gene Families for SLC9A5 Gene

Suggested Antigen Peptide Sequences for SLC9A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14940

UniProtKB/Swiss-Prot:

SL9A5_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 SLC9A5: view

Function for SLC9A5 Gene

Molecular function for SLC9A5 Gene

GENATLAS Biochemistry:
solute carrier protein family 9 (sodium/hydrogen exchange),member 5,involved in intracellular pH regulation and cell volume,isoform 5,expressed in multiple regions of the brains including hippocampus
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 (By similarity).

Gene Ontology (GO) - Molecular Function for SLC9A5 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 IBA --
genes like me logo Genes that share ontologies with SLC9A5: view
genes like me logo Genes that share phenotypes with SLC9A5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A5

miRNA for SLC9A5 Gene

miRTarBase miRNAs that target SLC9A5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC9A5 Gene

Localization for SLC9A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC9A5 Gene COMPARTMENTS Subcellular localization image for SLC9A5 gene
Compartment Confidence
plasma membrane 5
cytosol 3
endosome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SLC9A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9A5: view

Pathways & Interactions for SLC9A5 Gene

genes like me logo Genes that share pathways with SLC9A5: view

Gene Ontology (GO) - Biological Process for SLC9A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9933641
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006885 regulation of pH IEA --
genes like me logo Genes that share ontologies with SLC9A5: view

No data available for SIGNOR curated interactions for SLC9A5 Gene

Drugs & Compounds for SLC9A5 Gene

(1) Drugs for SLC9A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SLC9A5 Gene - From: Novoseek and 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 SLC9A5: view

Transcripts for SLC9A5 Gene

Unigene Clusters for SLC9A5 Gene

Solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A5 Gene

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

Relevant External Links for SLC9A5 Gene

GeneLoc Exon Structure for
SLC9A5
ECgene alternative splicing isoforms for
SLC9A5

Expression for SLC9A5 Gene

mRNA expression in normal human tissues for SLC9A5 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9A5 Gene

This gene is overexpressed in Spleen (x7.6), Brain - Cerebellum (x5.5), and Brain - Cerebellar Hemisphere (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of SLC9A5 Gene:

SLC9A5

SOURCE GeneReport for Unigene cluster for SLC9A5 Gene:

Hs.439650

mRNA Expression by UniProt/SwissProt for SLC9A5 Gene:

Q14940-SL9A5_HUMAN
Tissue specificity: Expressed in brain, testis, spleen, and skeletal muscle.
genes like me logo Genes that share expression patterns with SLC9A5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SLC9A5 Gene

Orthologs for SLC9A5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC9A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A5 34 35
  • 98.01 (n)
dog
(Canis familiaris)
Mammalia SLC9A5 34 35
  • 92.93 (n)
cow
(Bos Taurus)
Mammalia SLC9A5 34 35
  • 92.67 (n)
mouse
(Mus musculus)
Mammalia Slc9a5 34 16 35
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a5 34
  • 90.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A5 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A5 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 75 (a)
OneToMany
SLC9A5 34
  • 74.2 (n)
-- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a5 34
  • 66.55 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a5 34 35
  • 64.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009036 34
  • 53.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nhe2 34
  • 53.26 (n)
worm
(Caenorhabditis elegans)
Secernentea nhx-3 36
  • 44 (a)
nhx-9 36
  • 43 (a)
nhx-2 36
  • 40 (a)
nhx-6 36
  • 38 (a)
nhx-7 36
  • 35 (a)
pbo-4 35
  • 28 (a)
ManyToMany
nhx-4 35
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 35
  • 21 (a)
OneToMany
Species where no ortholog for SLC9A5 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)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC9A5 Gene

ENSEMBL:
Gene Tree for SLC9A5 (if available)
TreeFam:
Gene Tree for SLC9A5 (if available)

Paralogs for SLC9A5 Gene

Paralogs for SLC9A5 Gene

(5) SIMAP similar genes for SLC9A5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC9A5: view

Variants for SLC9A5 Gene

Sequence variations from dbSNP and Humsavar for SLC9A5 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs10557589 -- 67,251,404(+) TTGTC(C/T)TTTTT intron-variant
rs1061356 -- 67,271,012(+) CACCT(A/G)CCTTC nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1061357 -- 67,271,087(+) AGCAG(C/T)GCTGA nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1061358 -- 67,272,031(+) ACAGA(G/T)AAGGA nc-transcript-variant, utr-variant-3-prime
rs1061359 -- 67,272,042(+) ACCCA(G/T)CATCT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC9A5 Gene

Variant ID Type Subtype PubMed ID
esv2668436 CNV deletion 23128226
esv3553597 CNV deletion 23714750
esv3638882 CNV loss 21293372
esv9318 CNV gain 19470904
nsv457513 CNV loss 19166990
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv524492 CNV loss 19592680
nsv572905 CNV loss 21841781
nsv572906 CNV loss 21841781
nsv819753 CNV gain 19587683
nsv827707 CNV loss 20364138

Variation tolerance for SLC9A5 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC9A5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A5 Gene

Disorders for SLC9A5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC9A5 Gene - From: GeneCards

Disorder Aliases PubMed IDs
familial paroxysmal kinesigenic dyskinesia
  • paroxysmal kinesigenic choreoathetosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC9A5

Genetic Association Database (GAD)
SLC9A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC9A5
genes like me logo Genes that share disorders with SLC9A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A5 Gene

Publications for SLC9A5 Gene

  1. Molecular cloning and functional expression of a rat Na+/H+ exchanger (NHE5) highly expressed in brain. (PMID: 9933642) Attaphitaya S. … Melvin J.E. (J. Biol. Chem. 1999) 2 3 22 64
  2. Molecular cloning, genomic organization, and functional expression of Na+/H+ exchanger isoform 5 (NHE5) from human brain. (PMID: 9933641) Baird N.R. … Shull G.E. (J. Biol. Chem. 1999) 3 4 22 64
  3. Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1. (PMID: 7759094) Klanke C.A. … Menon A.G. (Genomics 1995) 2 3 4 64
  4. RACK1 associates with NHE5 in focal adhesions and positively regulates the transporter activity. (PMID: 16920332) Onishi I. … Numata M. (Cell. Signal. 2007) 3 22 64
  5. beta-Arrestins bind and decrease cell-surface abundance of the Na+/H+ exchanger NHE5 isoform. (PMID: 15699339) Szabo E.Z. … Orlowski J. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 64

Products for SLC9A5 Gene

Sources for SLC9A5 Gene

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