Aliases for SLC9A4 Gene

Aliases for SLC9A4 Gene

  • Solute Carrier Family 9 Member A4 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE4, Cation Proton Antiporter 4), Member 4 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 4 2 3
  • Solute Carrier Family 9 Member 4 3 4
  • Sodium/Hydrogen Exchanger 4 3 4
  • Na(+)/H(+) Exchanger 4 3 4
  • NHE-4 3 4
  • NHE4 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 4 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3

External Ids for SLC9A4 Gene

Previous GeneCards Identifiers for SLC9A4 Gene

  • GC02U990082
  • GC02P102745
  • GC02P103089
  • GC02P096854

Summaries for SLC9A4 Gene

GeneCards Summary for SLC9A4 Gene

SLC9A4 (Solute Carrier Family 9 Member A4) is a Protein Coding gene. Diseases associated with SLC9A4 include Pseudohypoaldosteronism, Type I, Autosomal Recessive. Among its related pathways are Salivary secretion 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 SLC9A2.

UniProtKB/Swiss-Prot Summary for SLC9A4 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. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation (By similarity).

Additional gene information for SLC9A4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A4 Gene

Genomics for SLC9A4 Gene

GeneHancer (GH) Regulatory Elements for SLC9A4 Gene

Promoters and enhancers for SLC9A4 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
GH02J102472 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 500.7 +0.2 173 1.2 CTCF REST RAD21 TRIM22 SMC3 ZNF654 ETV6 XRCC5 YY1 ZNF143 SLC9A4 ENSG00000234389 piR-32023-112
GH02J102618 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 +146.6 146587 2.8 MYC USF1 ZFX ZIC2 CLOCK ZBTB11 ZNF423 ZBTB26 TARDBP REST SLC9A2 SLC9A4 ENSG00000236525 IL18RAP lnc-MFSD9-7
GH02J102508 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 17.3 +36.6 36575 2.8 RELA FOS SPI1 CEBPG PAX5 CEBPB JUN GATA3 IL18RAP SLC9A4 SLC9A2 ENSG00000234389 IL1R1 IL18R1 lnc-MFSD9-20 piR-36588-234 lnc-MFSD9-8
GH02J102513 Enhancer 1 Ensembl ENCODE dbSUPER 11.6 +40.7 40675 2.6 ZNF217 JUND FOS EP300 TEAD1 FOSL1 FOSL2 CEBPB JUN RCOR1 lnc-MFSD9-20 IL18RAP SLC9A4 SLC9A2 piR-36588-234 lnc-MFSD9-8
GH02J102504 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.5 +32.0 31985 1.8 ZNF217 GATAD2B CTBP1 NFIC NEUROD1 ELF1 GATA3 KLF9 DPF2 RCOR1 IL18RAP SLC9A4 SLC9A2 ENSG00000234389 lnc-MFSD9-20 piR-36588-234 lnc-MFSD9-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A4

Top Transcription factor binding sites by QIAGEN in the SLC9A4 gene promoter:
  • AML1a
  • AREB6
  • ATF-2
  • c-Jun
  • LCR-F1
  • Nkx6-1
  • S8
  • TGIF

Genomic Locations for SLC9A4 Gene

Genomic Locations for SLC9A4 Gene
chr2:102,473,226-102,533,974
(GRCh38/hg38)
Size:
60,749 bases
Orientation:
Plus strand
chr2:103,089,762-103,150,431
(GRCh37/hg19)
Size:
60,670 bases
Orientation:
Plus strand

Genomic View for SLC9A4 Gene

Genes around SLC9A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A4 Gene

Proteins for SLC9A4 Gene

  • Protein details for SLC9A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6AI14-SL9A4_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 4
    Protein Accession:
    Q6AI14
    Secondary Accessions:
    • Q69YK0

    Protein attributes for SLC9A4 Gene

    Size:
    798 amino acids
    Molecular mass:
    89814 Da
    Quaternary structure:
    • Interacts with CHP1 and CHP2.

neXtProt entry for SLC9A4 Gene

Post-translational modifications for SLC9A4 Gene

Other Protein References for SLC9A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9A4 Gene

Domains & Families for SLC9A4 Gene

Gene Families for SLC9A4 Gene

Protein Domains for SLC9A4 Gene

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

Suggested Antigen Peptide Sequences for SLC9A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 9 member 4 (SL9A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6AI14

UniProtKB/Swiss-Prot:

SL9A4_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 SLC9A4: view

Function for SLC9A4 Gene

Molecular function for SLC9A4 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. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation (By similarity).
GENATLAS Biochemistry:
solute carrier protein family 9 (sodium/hydrogen exchange),member 4,involved in intracellular pH regulation and cell volume,isoform 4,expressed in stomach,kidney,brain,uterus,skeletalmuscle

Phenotypes From GWAS Catalog for SLC9A4 Gene

Gene Ontology (GO) - Molecular Function for SLC9A4 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 SLC9A4: view
genes like me logo Genes that share phenotypes with SLC9A4: view

Animal Models for SLC9A4 Gene

MGI Knock Outs for SLC9A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC9A4 Gene

Localization for SLC9A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A4 Gene

Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic granule membrane; Multi-pass membrane protein. Note=Found in zymogen granule membranes. {ECO:0000250}.

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 SLC9A4 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SLC9A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC9A4: view

Pathways & Interactions for SLC9A4 Gene

genes like me logo Genes that share pathways with SLC9A4: view

Pathways by source for SLC9A4 Gene

1 KEGG pathway for SLC9A4 Gene
2 Qiagen pathways for SLC9A4 Gene
  • Intracellular Calcium Signaling
  • PDGF Pathway

Gene Ontology (GO) - Biological Process for SLC9A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001696 gastric acid secretion IEA --
GO:0002064 epithelial cell development IEA --
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with SLC9A4: view

No data available for SIGNOR curated interactions for SLC9A4 Gene

Drugs & Compounds for SLC9A4 Gene

(1) Additional Compounds for SLC9A4 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 SLC9A4: view

Transcripts for SLC9A4 Gene

mRNA/cDNA for SLC9A4 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A4 Gene

No ASD Table

Relevant External Links for SLC9A4 Gene

GeneLoc Exon Structure for
SLC9A4

Expression for SLC9A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9A4 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9A4 Gene

This gene is overexpressed in Stomach (x39.8) and Kidney - Cortex (x4.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A4

SOURCE GeneReport for Unigene cluster for SLC9A4 Gene:

Hs.447686

Evidence on tissue expression from TISSUES for SLC9A4 Gene

  • Stomach(4.5)
  • Skin(4)
  • Liver(3.1)
  • Blood(2.3)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with SLC9A4: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A4 Gene

Orthologs for SLC9A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A4 31 30
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A4 30
  • 86.81 (n)
rat
(Rattus norvegicus)
Mammalia Slc9a4 30
  • 85.01 (n)
cow
(Bos Taurus)
Mammalia SLC9A4 31 30
  • 83.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a4 17 31 30
  • 82.79 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC9A4 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A4 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A4 31 30
  • 71.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a4 30
  • 66.99 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a2 31
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nhe2 31
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhx-1 31
  • 35 (a)
ManyToMany
nhx-9 31
  • 35 (a)
ManyToMany
nhx-6 31
  • 34 (a)
ManyToMany
nhx-2 31
  • 34 (a)
ManyToMany
nhx-3 31
  • 33 (a)
ManyToMany
Species where no ortholog for SLC9A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 (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 SLC9A4 Gene

ENSEMBL:
Gene Tree for SLC9A4 (if available)
TreeFam:
Gene Tree for SLC9A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A4: view image

Paralogs for SLC9A4 Gene

(4) SIMAP similar genes for SLC9A4 Gene using alignment to 1 proteins:

  • SL9A4_HUMAN
genes like me logo Genes that share paralogs with SLC9A4: view

Variants for SLC9A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
791150 Benign: not provided 102,473,809(+) T/C MISSENSE_VARIANT
rs17027275 - p.Gly116Ser
rs6742280 - p.Ile581Val

Additional dbSNP identifiers (rs#s) for SLC9A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC9A4 Gene

Variant ID Type Subtype PubMed ID
esv2667694 CNV deletion 23128226
esv3583992 CNV loss 25503493
esv3591793 CNV loss 21293372
nsv1160831 CNV duplication 26073780
nsv523406 CNV loss 19592680

Variation tolerance for SLC9A4 Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A4 Gene

Human Gene Mutation Database (HGMD)
SLC9A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A4 Gene

Disorders for SLC9A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC9A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pseudohypoaldosteronism, type i, autosomal recessive
  • pha1b
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC9A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A4 Gene

Publications for SLC9A4 Gene

  1. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PMID: 21738478) Okada Y … Kamatani N (PLoS genetics 2011) 3 41 54
  2. Newly identified genetic risk variants for celiac disease related to the immune response. (PMID: 18311140) Hunt KA … van Heel DA (Nature genetics 2008) 3 41 54
  3. NHE1, NHE2, and NHE4 contribute to regulation of cell pH in T84 colon cancer cells. (PMID: 17943310) Beltrán AR … Malnic G (Pflugers Archiv : European journal of physiology 2008) 3 23 54
  4. Chromosomal assignment of four genes encoding Na/H exchanger isoforms in human and rat. (PMID: 8199403) Szpirer C … Orlowski J (Mammalian genome : official journal of the International Mammalian Genome Society 1994) 2 3 54
  5. Macropinocytosis and TAK1 mediate anti-inflammatory to pro-inflammatory macrophage differentiation by HIV-1 Nef. (PMID: 24874739) Hashimoto M … Suzu S (Cell death & disease 2014) 3 54

Products for SLC9A4 Gene

Sources for SLC9A4 Gene