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Aliases for SLC9A3R2 Gene

Aliases for SLC9A3R2 Gene

  • SLC9A3 Regulator 2 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 2 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 2 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 2 2 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 2 2 3
  • Solute Carrier Family 9 Isoform A3 Regulatory Factor 2 3 4
  • NHE3 Kinase A Regulatory Protein E3KARP 3 4
  • Tyrosine Kinase Activator Protein 1 3 4
  • SRY-Interacting Protein 1 3 4
  • NHERF-2 3 4
  • NHERF2 3 4
  • SIP-1 3 4
  • TKA-1 3 4
  • Sodium/Hydrogen Exchanger 3 Kinase A Regulatory Protein 3
  • Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF2 3
  • Sodium-Hydrogen Exchanger Regulatory Factor 2 4
  • NHE3 Regulatory Factor 2 3
  • NHE3RF2 3
  • E3KARP 3
  • OCTS2 3
  • SIP1 3

External Ids for SLC9A3R2 Gene

Previous GeneCards Identifiers for SLC9A3R2 Gene

  • GC16P002094
  • GC16P002103
  • GC16P002016
  • GC16P002076
  • GC16P002001
  • GC16P002075
  • GC16P002068
  • GC16P002066
  • GC16P002078
  • GC16P002082
  • GC16P002089
  • GC16P002134
  • GC16P002172

Summaries for SLC9A3R2 Gene

Entrez Gene Summary for SLC9A3R2 Gene

  • This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for SLC9A3R2 Gene

SLC9A3R2 (SLC9A3 Regulator 2) is a Protein Coding gene. Diseases associated with SLC9A3R2 include Cystic Fibrosis. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Aldosterone-regulated sodium reabsorption. Gene Ontology (GO) annotations related to this gene include receptor binding and beta-catenin binding. An important paralog of this gene is SLC9A3R1.

UniProtKB/Swiss-Prot for SLC9A3R2 Gene

  • Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3 (PubMed:18829453). May also act as scaffold protein in the nucleus.

Gene Wiki entry for SLC9A3R2 Gene

Additional gene information for SLC9A3R2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A3R2 Gene

Genomics for SLC9A3R2 Gene

GeneHancer (GH) Regulatory Elements for SLC9A3R2 Gene

Promoters and enhancers for SLC9A3R2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I002026 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.3 2262 2.9 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ARID2 KLF7 SLC9A3R2 ENSG00000260646 ENSG00000261123 LOC105371049 ENSG00000255513 BRICD5 GC16M002077
GH16I002032 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.4 +13.2 13164 12.8 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 SLC9A3R2 PKD1 RAB26 SNORD60 TRAF7 SYNGR3 ENSG00000255513 BRICD5 JPT2 HAGH
GH16I002022 Enhancer 1.4 Ensembl ENCODE dbSUPER 550.8 -1.7 -1749 2.3 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 KLF13 DEK SLC9A3R2 TELO2 IFT140 CRAMP1 TSC2 ERVK13-1 SNHG19 NUBP2 E4F1 ENSG00000260447
GH16I001530 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.6 -490.1 -490133 10 CTCF LEF1 RXRA TAF1 MAX MNT ZIC2 ZNF2 RAD21 NR2F2 TMEM204 LOC105371047 TELO2 FAHD1 PTX4 IFT140 CCDC154 NME3 TSR3 FBXL16
GH16I002121 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.3 +100.2 100209 8.2 HDGF PKNOX1 ATF1 SIN3A FEZF1 ZNF2 IRF4 ZNF121 GLIS2 ARID2 AMDHD2 ENSG00000260051 TBL3 E4F1 CLCN7 ENSG00000261207 ENSG00000261123 MLST8 ENSG00000261240 TSC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC9A3R2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC9A3R2 gene promoter:

Genomic Locations for SLC9A3R2 Gene

Genomic Locations for SLC9A3R2 Gene
13,671 bases
Plus strand

Genomic View for SLC9A3R2 Gene

Genes around SLC9A3R2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A3R2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A3R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A3R2 Gene

Proteins for SLC9A3R2 Gene

  • Protein details for SLC9A3R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF2
    Protein Accession:
    Secondary Accessions:
    • D3DU84
    • D3DU85
    • H3BSV6
    • O00272
    • O00556
    • Q3KQY7

    Protein attributes for SLC9A3R2 Gene

    337 amino acids
    Molecular mass:
    37414 Da
    Quaternary structure:
    • Homodimer, and heterodimer with SLC9A3R1. Binds PDZK1. Found in a complex with EZR, PODXL and SLC9A3R2 (By similarity). Interacts (via the PDZ domains) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is detected in glomerular epithelium cells (By similarity). Binds ADRB2, SLC9A3, P2RY1, P2YR2, SRY, RDX and LPAR2. Interacts with MCC and PODXL. Interacts with SGK1 and KCNJ1/ROMK1. Interacts (via the PDZ domains) with SLC26A6 isoform 4 and isoform 5.
    • Sequence=AAH14513.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA90511.1; Type=Frameshift; Positions=309; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC9A3R2 Gene

    Alternative splice isoforms for SLC9A3R2 Gene


neXtProt entry for SLC9A3R2 Gene

Post-translational modifications for SLC9A3R2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC9A3R2 Gene

Domains & Families for SLC9A3R2 Gene

Gene Families for SLC9A3R2 Gene

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

Protein Domains for SLC9A3R2 Gene

Suggested Antigen Peptide Sequences for SLC9A3R2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SLC9A3R2: view

No data available for UniProtKB/Swiss-Prot for SLC9A3R2 Gene

Function for SLC9A3R2 Gene

Molecular function for SLC9A3R2 Gene

UniProtKB/Swiss-Prot Function:
Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3 (PubMed:18829453). May also act as scaffold protein in the nucleus.

Gene Ontology (GO) - Molecular Function for SLC9A3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 16456542
GO:0005515 protein binding IPI 11285285
GO:0008013 beta-catenin binding IPI 17242191
GO:0008022 protein C-terminus binding IPI 11786550
GO:0019902 phosphatase binding IPI 16456542
genes like me logo Genes that share ontologies with SLC9A3R2: view
genes like me logo Genes that share phenotypes with SLC9A3R2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A3R2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC9A3R2 Gene

Localization for SLC9A3R2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A3R2 Gene

Endomembrane system; Peripheral membrane protein. Nucleus. Apical cell membrane. Note=Localizes with EZR and PODXL at the apical cell membrane of glomerular epithelium cells and the sides of the food processes (By similarity). Nuclear, in a punctate pattern. {ECO:0000250}.

Subcellular locations from

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 SLC9A3R2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS --
GO:0005886 plasma membrane TAS,IDA 11786550
GO:0005925 focal adhesion IDA,HDA 21423176
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC9A3R2: view

Pathways & Interactions for SLC9A3R2 Gene

genes like me logo Genes that share pathways with SLC9A3R2: view

Pathways by source for SLC9A3R2 Gene

Gene Ontology (GO) - Biological Process for SLC9A3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 9748260
genes like me logo Genes that share ontologies with SLC9A3R2: view

No data available for SIGNOR curated interactions for SLC9A3R2 Gene

Drugs & Compounds for SLC9A3R2 Gene

(7) Drugs for SLC9A3R2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(4) Additional Compounds for SLC9A3R2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC9A3R2: view

Transcripts for SLC9A3R2 Gene

Unigene Clusters for SLC9A3R2 Gene

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: -
SP8: -
SP9: - - - - - - -
SP10: - - -

Relevant External Links for SLC9A3R2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC9A3R2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC9A3R2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC9A3R2 Gene

This gene is overexpressed in Breast (51.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC9A3R2 Gene

Protein tissue co-expression partners for SLC9A3R2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9A3R2 Gene:


SOURCE GeneReport for Unigene cluster for SLC9A3R2 Gene:


mRNA Expression by UniProt/SwissProt for SLC9A3R2 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SLC9A3R2 Gene

  • Kidney(4.6)
  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(4.4)
  • Intestine(3)
  • Heart(2.4)
  • Muscle(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SLC9A3R2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A3R2 Gene

Orthologs for SLC9A3R2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A3R2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC9A3R2 34
  • 98 (a)
(Canis familiaris)
Mammalia SLC9A3R2 33 34
  • 89.42 (n)
(Mus musculus)
Mammalia Slc9a3r2 33 16 34
  • 87.64 (n)
(Rattus norvegicus)
Mammalia Slc9a3r2 33
  • 86.84 (n)
(Bos Taurus)
Mammalia SLC9A3R2 34
  • 83 (a)
(Monodelphis domestica)
Mammalia SLC9A3R2 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia SLC9A3R2 34
  • 56 (a)
(Gallus gallus)
Aves SLC9A3R2 33 34
  • 72.06 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a3r2 33
  • 66.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68451 33
(Danio rerio)
Actinopterygii SLC9A3R2 (2 of 3) 34
  • 62 (a)
LOC100535100 33
  • 61.99 (n)
CU571260.1 34
  • 59 (a)
SLC9A3R2 (1 of 3) 34
  • 50 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sip1 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea mpz-2 33
  • 43.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8280 34
  • 44 (a)
Species where no ortholog for SLC9A3R2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 SLC9A3R2 Gene

Gene Tree for SLC9A3R2 (if available)
Gene Tree for SLC9A3R2 (if available)

Paralogs for SLC9A3R2 Gene

Paralogs for SLC9A3R2 Gene

(5) SIMAP similar genes for SLC9A3R2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SLC9A3R2: view

Variants for SLC9A3R2 Gene

Sequence variations from dbSNP and Humsavar for SLC9A3R2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs387907539 uncertain-significance, not provided 2,029,620(+) G/A/C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs387907540 uncertain-significance, not provided 2,036,395(+) G/A coding_sequence_variant, synonymous_variant
rs1000073525 -- 2,033,047(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs1000172330 -- 2,037,427(+) C/G intron_variant
rs1000236373 -- 2,038,117(+) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC9A3R2 Gene

Variant ID Type Subtype PubMed ID
dgv336n27 CNV loss 19166990
dgv4858n54 CNV loss 21841781
dgv4859n54 CNV loss 21841781
dgv779e212 CNV loss 25503493
esv2422427 CNV duplication 17116639
esv2750375 CNV deletion 23290073
nsv1070734 CNV deletion 25765185
nsv1160329 CNV deletion 26073780
nsv457348 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv521569 CNV loss 19592680
nsv522978 CNV loss 19592680
nsv523037 CNV loss 19592680
nsv571189 CNV loss 21841781
nsv952901 CNV deletion 24416366

Variation tolerance for SLC9A3R2 Gene

Gene Damage Index Score: 4.10; 61.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A3R2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3R2 Gene

Disorders for SLC9A3R2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC9A3R2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9A3R2

genes like me logo Genes that share disorders with SLC9A3R2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A3R2 Gene

Publications for SLC9A3R2 Gene

  1. A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory factor family of PDZ proteins. (PMID: 9671706) Hall RA … Lefkowitz RJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 58
  2. NHERF2 specifically interacts with LPA2 receptor and defines the specificity and efficiency of receptor-mediated phospholipase C-beta3 activation. (PMID: 15143197) Oh YS … Suh PG (Molecular and cellular biology 2004) 3 4 22 58
  3. Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains. (PMID: 12444019) Lohi H … Kere J (American journal of physiology. Cell physiology 2003) 3 4 22 58
  4. Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1. (PMID: 14623317) Palmada M … Lang F (Biochemical and biophysical research communications 2003) 3 4 22 58
  5. cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger 3 (NHE3) are dependent on the presence but not the phosphorylation of NHE regulatory factor. (PMID: 10455146) Zizak M … Weinman EJ (The Journal of biological chemistry 1999) 3 4 22 58

Products for SLC9A3R2 Gene

Sources for SLC9A3R2 Gene

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