Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC9A3R2 Gene

Aliases for SLC9A3R2 Gene

  • Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 2 2 3
  • NHERF2 3 4 6
  • 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
  • SIP-1 3 4
  • TKA-1 3 4
  • SIP1 3 6
  • 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

External Ids for SLC9A3R2 Gene

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 (Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 2) is a Protein Coding gene. Diseases associated with SLC9A3R2 include cystic fibrosis and secretory diarrhea. Among its related pathways are PDGFR-beta signaling pathway and Glucose / Energy Metabolism. 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. May also act as scaffold protein in the nucleus.

Gene Wiki entry for SLC9A3R2 Gene

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

Genomics for SLC9A3R2 Gene

Genomic Location for SLC9A3R2 Gene

Start:
2,025,356 bp from pter
End:
2,039,026 bp from pter
Size:
13,671 bases
Orientation:
Plus strand

Genomic View for SLC9A3R2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC9A3R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A3R2 Gene

Regulatory Elements for SLC9A3R2 Gene

Proteins for SLC9A3R2 Gene

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

    Protein Symbol:
    Q15599-NHRF2_HUMAN
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF2
    Protein Accession:
    Q15599
    Secondary Accessions:
    • D3DU84
    • D3DU85
    • H3BSV6
    • O00272
    • O00556
    • Q3KQY7

    Protein attributes for SLC9A3R2 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A3R2 Gene

Proteomics data for SLC9A3R2 Gene at MOPED

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 for SLC9A3R2 Gene

Protein Domains for SLC9A3R2 Gene

UniProtKB/Swiss-Prot:

NHRF2_HUMAN
Domain:
  • Contains 2 PDZ (DHR) domains.:
    • Q15599
genes like me logo Genes that share domains with SLC9A3R2: view

No data available for Gene Families 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. 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

Phenotypes for SLC9A3R2 Gene

MGI mutant phenotypes for SLC9A3R2:
inferred from 1 alleles
GenomeRNAi human phenotypes for SLC9A3R2:
genes like me logo Genes that share phenotypes with SLC9A3R2: view

miRNA for SLC9A3R2 Gene

miRTarBase miRNAs that target SLC9A3R2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for SLC9A3R2 Gene COMPARTMENTS Subcellular localization image for SLC9A3R2 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 2
cytosol 2
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC9A3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IDA 21423176
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with SLC9A3R2: view

Pathways for SLC9A3R2 Gene

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

Pathways by source for SLC9A3R2 Gene

2 Cell Signaling Technology pathways for SLC9A3R2 Gene
2 BioSystems pathways for SLC9A3R2 Gene
1 PharmGKB pathway for SLC9A3R2 Gene
1 KEGG pathway 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
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA --
genes like me logo Genes that share ontologies with SLC9A3R2: view

Compounds for SLC9A3R2 Gene

(1) HMDB Compounds for SLC9A3R2 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(10) Novoseek inferred chemical compound relationships for SLC9A3R2 Gene

Compound -log(P) Hits PubMed IDs
cariporide 81.7 3
eipa 54.5 1
amiloride 45.1 2
bcecf 39.7 1
sodium 30.4 1
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:

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
SLC9A3R2
ECgene alternative splicing isoforms for
SLC9A3R2

Expression for SLC9A3R2 Gene

mRNA expression in normal human tissues for SLC9A3R2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC9A3R2 Gene

SOURCE GeneReport for Unigene cluster for SLC9A3R2 Gene Hs.440896

mRNA Expression by UniProt/SwissProt for SLC9A3R2 Gene

Q15599-NHRF2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with SLC9A3R2: view

Orthologs for SLC9A3R2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A3R2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A3R2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A3R2 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A3R2 36
  • 89.42 (n)
  • 93.77 (a)
SLC9A3R2 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a3r2 36
  • 87.64 (n)
  • 91.69 (a)
Slc9a3r2 16
Slc9a3r2 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A3R2 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A3R2 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc9a3r2 36
  • 86.84 (n)
  • 91.69 (a)
chicken
(Gallus gallus)
Aves SLC9A3R2 36
  • 72.06 (n)
  • 71.26 (a)
SLC9A3R2 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68451 36
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a3r2 36
  • 66.27 (n)
  • 64.56 (a)
zebrafish
(Danio rerio)
Actinopterygii CU571260.1 37
  • 59 (a)
OneToMany
LOC100535100 36
  • 61.99 (n)
  • 62.8 (a)
SLC9A3R2 (1 of 3) 37
  • 50 (a)
OneToMany
SLC9A3R2 (2 of 3) 37
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sip1 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mpz-2 36
  • 43.27 (n)
  • 39.42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8280 37
  • 44 (a)
OneToMany
Species with no ortholog for SLC9A3R2:
  • 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

ENSEMBL:
Gene Tree for SLC9A3R2 (if available)
TreeFam:
Gene Tree for SLC9A3R2 (if available)

Paralogs for SLC9A3R2 Gene

Paralogs for SLC9A3R2 Gene

Selected 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 Sequence Context AA Info Type MAF
rs11876 -- 2,038,311(+) TCTGC(C/T)GGGGC utr-variant-3-prime, downstream-variant-500B
rs917457 -- 2,029,804(+) CCACA(C/G)GGACC intron-variant
rs917458 -- 2,029,834(+) GCTCT(A/C)TGAGC intron-variant
rs917459 -- 2,029,836(+) TCTAT(C/G)AGCTT intron-variant
rs1057180 -- 2,038,974(+) GTTGC(C/T)TCGTA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
nsv905048 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2547n71 CNV Loss 21882294
dgv2548n71 CNV Gain 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
dgv2552n71 CNV Gain+Loss 21882294
dgv336n27 CNV Loss 19166990
dgv2553n71 CNV Loss 21882294
nsv521569 CNV Loss 19592680
nsv523037 CNV Loss 19592680
nsv471072 CNV Loss 18288195
dgv2555n71 CNV Gain+Loss 21882294
nsv905094 CNV Gain 21882294
nsv905095 CNV Gain 21882294
nsv457348 CNV Loss 19166990
nsv905101 CNV Loss 21882294
nsv905102 CNV Loss 21882294
dgv2556n71 CNV Loss 21882294
nsv905105 CNV Loss 21882294
dgv2557n71 CNV Loss 21882294
esv2750375 CNV Deletion 23290073
nsv522978 CNV Loss 19592680

Relevant External Links for SLC9A3R2 Gene

HapMap Linkage Disequilibrium report
SLC9A3R2

Disorders for SLC9A3R2 Gene

(9) Novoseek inferred disease relationships for SLC9A3R2 Gene

Disease -log(P) Hits PubMed IDs
acidosis 51.3 1
cystic fibrosis 45.6 2
myocardial ischemia 28.9 1
ischemia 26 4
heart failure 11.2 1
genes like me logo Genes that share disorders with SLC9A3R2: view

No data available for UniProtKB/Swiss-Prot 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 R.A. … Lefkowitz R.J. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PMID: 9831664) Imai K. … Seki S. (Gene 1998) 3 4 23
  3. cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein. (PMID: 9096337) Yun C.H.C. … Donowitz M. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23
  4. 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 E.J. (J. Biol. Chem. 1999) 3 4 23
  5. 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. (Biochem. Biophys. Res. Commun. 2003) 3 4 23

Products for SLC9A3R2 Gene

Sources for SLC9A3R2 Gene

Back to Top

Content