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
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 Delta508-CFTR traffic / ER-to-Golgi in CF and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include receptor binding and beta-catenin binding. An important paralog of this gene is MIR3615.
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 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
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SLC9A3R2
- 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
-
St John's Laboratory Antibodies 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
Assay Products
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
Q15599- Domain:
-
- Contains 2 PDZ (DHR) domains.
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
- 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
Clone Products
-
- RC215675L2
- RG215675
- RR204472
- RR204472L1
- RR204472L2
- RC215675L1
- RC215675
- RC236634
- RC236706
- RG232200
- RC232200
- RG225496
- RC225496L2
- RC225496L1
- RC225496
- MR224925L2
- MR224925L1
- MR224925
- MG224925
- MR223689L2
- MR223689L1
- MR223689
- MG223689
- MR204526L2
- MR204526L1
- MR204526
- MG204526
- MR202663L2
- MR202663L1
- MR202663
- MG202663
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
Flow Cytometry Products
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 | IDA,TAS | 11786550 |
| GO:0005913 | cell-cell adherens junction | IDA | 25468996 |
| GO:0005925 | focal adhesion | IDA | 21423176 |
| GO:0012505 | endomembrane system | 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:
Q15599-NHRF2_HUMAN
ENSP00000408005
for SLC9A3R2 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006461 | protein complex assembly | TAS | 9748260 |
| GO:0098609 | cell-cell adhesion | IEA | -- |
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
- GenScript: Design CRISPR guide RNA sequences for SLC9A3R2
miRNA Products
- Search ViGene Biosciences for SLC9A3R2
Clone Products
-
- RC215675L2
- RG215675
- RR204472
- RR204472L1
- RR204472L2
- RC215675L1
- RC215675
- RC236634
- RC236706
- RG232200
- RC232200
- RG225496
- RC225496L2
- RC225496L1
- RC225496
- MR224925L2
- MR224925L1
- MR224925
- MG224925
- MR223689L2
- MR223689L1
- MR223689
- MG223689
- MR204526L2
- MR204526L1
- MR204526
- MG204526
- MR202663L2
- MR202663L1
- MR202663
- MG202663
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- 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
Flow Cytometry Products
| 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.
Primer Products
-
OriGene qPCR primer pairs and template standards for SLC9A3R2
-
OriGene qPCR primer pairs for SLC9A3R2
No data available for mRNA differential expression in normal tissues 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 | |
| rs10083749 | -- | 2,034,510(+) | ACTGG(A/G)CTCCT | intron-variant, utr-variant-5-prime | |
| rs10083811 | -- | 2,034,656(+) | ACTGG(A/G)CTCCT | intron-variant, utr-variant-5-prime | |
| rs1057180 | -- | 2,038,974(+) | GTTGC(C/T)TCGTA | utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv952901 | CNV | deletion | 24416366 |
| nsv571189 | CNV | loss | 21841781 |
| nsv523037 | CNV | loss | 19592680 |
| nsv522978 | CNV | loss | 19592680 |
| nsv521569 | CNV | loss | 19592680 |
| nsv471072 | CNV | loss | 18288195 |
| nsv457348 | CNV | loss | 19166990 |
| nsv1160329 | CNV | deletion | 26073780 |
| nsv1070734 | CNV | deletion | 25765185 |
| esv2750375 | CNV | deletion | 23290073 |
| esv2422427 | CNV | duplication | 17116639 |
| dgv779e212 | CNV | loss | 25503493 |
| dgv4859n54 | CNV | loss | 21841781 |
| dgv4858n54 | CNV | loss | 21841781 |
| dgv336n27 | CNV | loss | 19166990 |
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
- 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
- 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 22 64
Products for SLC9A3R2 Gene
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Sources for SLC9A3R2 Gene
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