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
External Ids for SLC9A3R2 Gene
- HGNC: 11076
- Entrez Gene: 9351
- Ensembl: ENSG00000065054
- OMIM: 606553
- UniProtKB: Q15599
Previous GeneCards Identifiers for SLC9A3R2 Gene
- GC16P002094
- GC16P002103
- GC16P002016
- GC16P002076
- GC16P002001
- GC16P002075
- GC16P002068
- GC16P002066
- GC16P002078
- GC16P002082
- GC16P002089
Summaries 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 Neuroscience and Aldosterone-regulated sodium reabsorption. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A3R2 Gene
Genomics for SLC9A3R2 Gene
Regulatory Elements for SLC9A3R2 Gene
Enhancers for SLC9A3R2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SLC9A3R2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SLC9A3R2 gene promoter:
Regulatory Element Products
Genomic Location for SLC9A3R2 Gene
- Chromosome:
- 16
- 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
Genes around SLC9A3R2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
SLC9A3R2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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
Protein Expression for SLC9A3R2 Gene
Post-translational modifications for SLC9A3R2 Gene
Other Protein References for SLC9A3R2 Gene
Antibody Products
- Cell Signaling Technology (CST) Antibodies for SLC9A3R2 (NHERF-2)
- Novus Biologicals Antibodies for SLC9A3R2
-
Abcam antibodies for SLC9A3R2
-
Cloud-Clone Corp. Antibodies for SLC9A3R2
- Invitrogen Antibodies for SLC9A3R2
- antibodies-online Antibodies for SLC9A3R2: See all 52
- GeneTex SLC9A3R2 antibody for SLC9A3R2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC9A3R2
Protein Products
-
OriGene Purified Proteins for SLC9A3R2
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC9A3R2
- Origene Custom Protein Services for SLC9A3R2
- Novus Biologicals proteins for SLC9A3R2
-
Cloud-Clone Corp. Proteins for SLC9A3R2
- antibodies-online Proteins for SLC9A3R2: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SLC9A3R2
-
Abcam proteins for SLC9A3R2
No data available for DME Specific Peptides for SLC9A3R2 Gene
Domains & Families for SLC9A3R2 Gene
Gene Families for SLC9A3R2 Gene
Protein Domains for SLC9A3R2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC9A3R2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| 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 |
Phenotypes for SLC9A3R2 Gene
- MGI mutant phenotypes for SLC9A3R2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLC9A3R2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability after Maraba virus infection
- Increased cell number in S
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC9A3R2
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC9A3R2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC9A3R2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC9A3R2 gene
- Search ViGene Biosciences for SLC9A3R2
CRISPR Products
-
OriGene CRISPR knockouts for SLC9A3R2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC9A3R2
- GenScript: Design CRISPR guide RNA sequences for SLC9A3R2
miRNA for SLC9A3R2 Gene
- miRTarBase miRNAs that target SLC9A3R2
-
- hsa-mir-30a-5p (MIRT005146)
- hsa-mir-155-5p (MIRT020575)
- hsa-mir-125b-5p (MIRT045974)
- hsa-mir-7111-5p (MIRT486840)
- hsa-mir-6870-5p (MIRT486841)
- hsa-mir-5698 (MIRT486842)
- hsa-mir-4723-5p (MIRT486843)
- hsa-mir-939-5p (MIRT486844)
- hsa-mir-1343-5p (MIRT486845)
- hsa-mir-6827-5p (MIRT486846)
- hsa-mir-6818-3p (MIRT618002)
- hsa-mir-6888-3p (MIRT618003)
- hsa-mir-6873-3p (MIRT618004)
- hsa-mir-4711-3p (MIRT618005)
- hsa-mir-593-3p (MIRT618006)
- hsa-mir-6895-3p (MIRT618007)
- hsa-mir-4522 (MIRT618008)
- hsa-mir-3120-5p (MIRT618009)
- hsa-mir-345-5p (MIRT618010)
- hsa-mir-4653-5p (MIRT618011)
- hsa-mir-3921 (MIRT618012)
- hsa-mir-301b-5p (MIRT618013)
- hsa-mir-301a-5p (MIRT618014)
- hsa-mir-146a-3p (MIRT618015)
- hsa-mir-6817-3p (MIRT618016)
- hsa-mir-7110-3p (MIRT618017)
- hsa-mir-6812-3p (MIRT618018)
miRNA Products
- Search ViGene Biosciences for SLC9A3R2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SLC9A3R2
- Browse OriGene Inhibitory RNA Products For SLC9A3R2
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC9A3R2 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC9A3R2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SLC9A3R2
- VectorBuilder custom plasmid, inducible vectors for SLC9A3R2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC9A3R2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SLC9A3R2
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC9A3R2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC9A3R2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC9A3R2 gene
No data available for Enzyme Numbers (IUBMB) , 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| 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 | 21423176 |
| GO:0012505 | endomembrane system | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SLC9A3R2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of CFTR activity (norm and CF) | ||
| 2 | Aldosterone-regulated sodium reabsorption | ||
| 3 | ADP signalling through P2Y purinoceptor 12 | ||
| 4 | Glucose / Energy Metabolism | ||
| 5 | Neuroscience | ||
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
3 GeneGo (Thomson Reuters) pathways for SLC9A3R2 Gene
Interacting Proteins for SLC9A3R2 Gene
Selected Interacting proteins:
ENSP00000408005
Q15599-NHRF2_HUMAN
for SLC9A3R2 Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006461 | protein complex assembly | TAS | 9748260 |
No data available for SIGNOR curated interactions for SLC9A3R2 Gene
Drugs & Compounds for SLC9A3R2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cyclic amp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SLC9A3R2 Gene
mRNA/cDNA for SLC9A3R2 Gene
- (9) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (176) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC9A3R2 Gene
- Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SLC9A3R2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC9A3R2
- GenScript: Design CRISPR guide RNA sequences for SLC9A3R2
miRNA Products
- Search ViGene Biosciences for SLC9A3R2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SLC9A3R2
- Browse OriGene Inhibitory RNA Products For SLC9A3R2
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC9A3R2 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC9A3R2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SLC9A3R2
- VectorBuilder custom plasmid, inducible vectors for SLC9A3R2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC9A3R2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: | - | - | - |
Expression for SLC9A3R2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Heart (Cardiovascular System)
- Cushion Mesenchymal Cells Endocardium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Kidney (Urinary System)
-
Stomach (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of SLC9A3R2 Gene:
SLC9A3R2SOURCE GeneReport for Unigene cluster for SLC9A3R2 Gene:
Hs.440896mRNA Expression by UniProt/SwissProt for SLC9A3R2 Gene:
Q15599-NHRF2_HUMAN
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)
Primer Products
-
OriGene qPCR primer pairs for SLC9A3R2
-
OriGene qPCR primer pairs and template standards for SLC9A3R2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC9A3R2 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SLC9A3R2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc9a3r2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc9a3r2 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC9A3R2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SLC9A3R2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC9A3R2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC9A3R2 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc9a3r2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68451 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | SLC9A3R2 (2 of 3) 35 |
|
OneToMany | |
| LOC100535100 34 |
|
||||
| CU571260.1 35 |
|
OneToMany | |||
| SLC9A3R2 (1 of 3) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Sip1 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mpz-2 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8280 35 |
|
OneToMany |
- 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)
Paralogs for SLC9A3R2 Gene
(5) SIMAP similar genes for SLC9A3R2 Gene using alignment to 6 proteins:
Variants for SLC9A3R2 Gene
| SNP ID | Clin | Chr 16 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387907539 | Uncertain significance | 2,029,620(+) | ACTCG(A/G)CTGCT | reference, synonymous-codon | |
| rs387907540 | Uncertain significance | 2,036,395(+) | TATGG(A/G)TTCAA | reference, synonymous-codon | |
| rs1000073525 | -- | 2,033,047(+) | GCCGG(G/T)ACTCC | intron-variant, upstream-variant-2KB, reference, missense | |
| rs1000172330 | -- | 2,037,427(+) | GGCCC(C/G)CTGCC | intron-variant | |
| rs1000236373 | -- | 2,038,117(+) | AGCCC(C/T)GGTGA | utr-variant-3-prime |
| 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 |
Gene Damage Index Score:
4.10;
61.08% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SLC9A3R2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SLC9A3R2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3R2 Gene
Disorders for SLC9A3R2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cystic fibrosis |
|
Search SLC9A3R2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for SLC9A3R2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- SLC9A3R2
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9A3R2 Gene
Publications for SLC9A3R2 Gene
- 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 22 64
- NHERF2 specifically interacts with LPA2 receptor and defines the specificity and efficiency of receptor-mediated phospholipase C-beta3 activation. (PMID: 15143197) Oh Y.-S. … Suh P.-G. (Mol. Cell. Biol. 2004) 3 4 22 64
- Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains. (PMID: 12444019) Lohi H. … Kere J. (Am. J. Physiol., Cell Physiol. 2003) 3 4 22 64
- 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 22 64
- 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 22 64
Products for SLC9A3R2 Gene
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- antibodies-online Antibodies for SLC9A3R2: See all 52
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- GeneTex SLC9A3R2 antibody for SLC9A3R2
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- VectorBuilder custom plasmid, inducible vectors for SLC9A3R2
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- Mammalian expression: PiggyBac
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