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
  • Sodium/Hydrogen Exchanger 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

External Ids for SLC9A5 Gene

Previous GeneCards Identifiers for SLC9A5 Gene

  • GC16M076428
  • GC16P067660
  • GC16P067018
  • GC16P067059
  • GC16P065840
  • GC16P067282
  • 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 Episodic Kinesigenic Dyskinesia 2 and Episodic Kinesigenic Dyskinesia 1. Among its related pathways are Sweet Taste Signaling and 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 sodium:proton antiporter activity. An important paralog of this gene is SLC9A3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SLC9A5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A5 Gene

Genomics for SLC9A5 Gene

GeneHancer (GH) Regulatory Elements for SLC9A5 Gene

Promoters and enhancers for SLC9A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067239 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +7.2 7214 10.6 ZBTB40 ZNF217 CTCF NRF1 TCF12 POLR2G USF1 SP1 NCOR1 PHF8 FHOD1 SLC9A5 ATP6V0D1 ELMO3 NAE1 CENPT EDC4 LRRC36 DPEP2 C16orf70
GH16J067235 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 500.7 -1.1 -1117 1.7 SP2 NKRF POLR2G GABPB1 IRF1 POLR2A MAZ VEZF1 ZFP64 ZBTB33 NONHSAG019732.2 SLC9A5 lnc-LRRC29-2 ATP6V0D1 MIR328 ELMO3 LRRC36 HSD11B2 ACD PARD6A
GH16J066871 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.1 -363.8 -363843 5.1 CTCF ZSCAN5C NRF1 TCF12 MYC JUND FOS ZNF639 ZNF10 EP300 NAE1 CES2 E2F4 CA7 PLEKHG4 ZDHHC1 ENSG00000260465 CIAO2B FBXL8 CTCF
GH16J067652 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 1.9 +415.6 415618 1.4 HNRNPK CTCF ZIC2 REST ZBTB11 ZBTB26 TGIF2 KDM4B OSR2 EZH2 PARD6A KIAA0895L SLC9A5 HSF4 TSNAXIP1 CARMIL2 lnc-ENKD1-1
GH16J067527 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.2 +292.6 292643 5 HNRNPK ZBTB40 NRF1 ZNF300 POLR2G PHF8 JUND FOS ZFX ZIC2 ENSG00000276075 LOC100505942 ATP6V0D1 EDC4 ZDHHC1 ENKD1 CENPT C16orf70 E2F4 RANBP10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A5

Top Transcription factor binding sites by QIAGEN in the SLC9A5 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • ER-alpha
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma2

Genomic Locations for SLC9A5 Gene

Genomic Locations for SLC9A5 Gene
chr16:67,237,683-67,272,191
(GRCh38/hg38)
Size:
34,509 bases
Orientation:
Plus strand
chr16:67,271,586-67,306,094
(GRCh37/hg19)
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

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

Protein Domains for SLC9A5 Gene

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

Suggested Antigen Peptide Sequences for SLC9A5 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 9 member 5 (SL9A5_HUMAN)

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

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).
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

Phenotypes From GWAS Catalog for SLC9A5 Gene

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,IBA 21873635
GO:0015386 potassium:proton antiporter activity IBA 21873635
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

CRISPR Products

miRNA for SLC9A5 Gene

miRTarBase miRNAs that target SLC9A5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A5

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
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 SLC9A5 gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
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

Pathways by source for SLC9A5 Gene

Gene Ontology (GO) - Biological Process for SLC9A5 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 SLC9A5: view

No data available for SIGNOR curated interactions for SLC9A5 Gene

Drugs & Compounds for SLC9A5 Gene

(2) Drugs for SLC9A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Transcripts for SLC9A5 Gene

mRNA/cDNA for SLC9A5 Gene

6 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 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 SLC9A5

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

Expression for SLC9A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

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

Evidence on tissue expression from TISSUES for SLC9A5 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SLC9A5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 98.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A5 31 30
  • 92.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A5 31 30
  • 92.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a5 17 31 30
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a5 30
  • 90.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A5 31
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A5 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 75 (a)
OneToMany
SLC9A5 30
  • 74.2 (n)
-- 31
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a5 30
  • 66.55 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a5 31 30
  • 64.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009036 30
  • 53.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nhe2 30
  • 53.26 (n)
worm
(Caenorhabditis elegans)
Secernentea nhx-3 32
  • 44 (a)
nhx-9 32
  • 43 (a)
nhx-2 32
  • 40 (a)
nhx-6 32
  • 38 (a)
nhx-7 32
  • 35 (a)
pbo-4 31
  • 28 (a)
ManyToMany
nhx-4 31
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A5: view image

Paralogs for SLC9A5 Gene

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

  • SL9A5_HUMAN
  • H3BNY2_HUMAN
  • J3KSB3_HUMAN
  • J3KSE2_HUMAN
  • J3QRV1_HUMAN
genes like me logo Genes that share paralogs with SLC9A5: view

Variants for SLC9A5 Gene

Additional dbSNP identifiers (rs#s) for SLC9A5 Gene

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)

Additional Variant Information for SLC9A5 Gene

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

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 SLC9A5 Gene

Disorders for SLC9A5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC9A5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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, genomic organization, and functional expression of Na+/H+ exchanger isoform 5 (NHE5) from human brain. (PMID: 9933641) Baird NR … Shull GE (The Journal of biological chemistry 1999) 3 4 23 54
  2. Molecular cloning and functional expression of a rat Na+/H+ exchanger (NHE5) highly expressed in brain. (PMID: 9933642) Attaphitaya S … Melvin JE (The Journal of biological chemistry 1999) 2 3 23 54
  3. Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1. (PMID: 7759094) Klanke CA … Leppert M (Genomics 1995) 2 3 4 54
  4. RACK1 associates with NHE5 in focal adhesions and positively regulates the transporter activity. (PMID: 16920332) Onishi I … Numata M (Cellular signalling 2007) 3 23 54
  5. beta-Arrestins bind and decrease cell-surface abundance of the Na+/H+ exchanger NHE5 isoform. (PMID: 15699339) Szabó EZ … Orlowski J (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 54

Products for SLC9A5 Gene

Sources for SLC9A5 Gene