Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC9A3R2 (solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2)

Identity

Other namesE3KARP
NHE3RF2
NHERF-2
NHERF2
OCTS2
SIP-1
SIP1
TKA-1
HGNC (Hugo) SLC9A3R2
LocusID (NCBI) 9351
Location 16p13.3
Location_base_pair Starts at 2076869 and ends at 2089027 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SLC9A3R2   11076
Cards
Entrez_Gene (NCBI)SLC9A3R2  9351  solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
GeneCards (Weizmann)SLC9A3R2
Ensembl (Hinxton)ENSG00000065054 [Gene_View]  chr16:2076869-2089027 [Contig_View]  SLC9A3R2 [Vega]
ICGC DataPortalENSG00000065054
AceView (NCBI)SLC9A3R2
Genatlas (Paris)SLC9A3R2
WikiGenes9351
SOURCE (Princeton)NM_001130012 NM_001252073 NM_001252075 NM_001252076 NM_004785
Genomic and cartography
GoldenPath (UCSC)SLC9A3R2  -  16p13.3   chr16:2076869-2089027 +  16p13.3   [Description]    (hg19-Feb_2009)
EnsemblSLC9A3R2 - 16p13.3 [CytoView]
Mapping of homologs : NCBISLC9A3R2 [Mapview]
OMIM606553   
Gene and transcription
Genbank (Entrez)AF004900 AF035771 BC014513 BC069014 BC106001
RefSeq transcript (Entrez)NM_001130012 NM_001252073 NM_001252075 NM_001252076 NM_004785
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NT_010393 NW_001838339 NW_004929400
Consensus coding sequences : CCDS (NCBI)SLC9A3R2
Cluster EST : UnigeneHs.440896 [ NCBI ]
CGAP (NCI)Hs.440896
Alternative Splicing : Fast-db (Paris)GSHG0010856
Alternative Splicing GalleryENSG00000065054
Gene ExpressionSLC9A3R2 [ NCBI-GEO ]     SLC9A3R2 [ SEEK ]   SLC9A3R2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15599 (Uniprot)
NextProtQ15599  [Medical]
With graphics : InterProQ15599
Splice isoforms : SwissVarQ15599 (Swissvar)
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)EBP50_C-term    NaH_exchngr_reg_CF_NHE-RF    PDZ   
Related proteins : CluSTrQ15599
Domain families : Pfam (Sanger)EBP50_C-term (PF09007)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam09007    pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Domain structure : Prodom (Prabi Lyon)EBP50_C-term (PD283022)   
DMDM Disease mutations9351
Blocks (Seattle)Q15599
PDB (SRS)2D11    2HE4    2OCS   
PDB (PDBSum)2D11    2HE4    2OCS   
PDB (IMB)2D11    2HE4    2OCS   
PDB (RSDB)2D11    2HE4    2OCS   
Human Protein AtlasENSG00000065054
Peptide AtlasQ15599
HPRD05946
IPIIPI00385034   IPI00398293   IPI00645815   
Protein Interaction databases
DIP (DOE-UCLA)Q15599
IntAct (EBI)Q15599
FunCoupENSG00000065054
BioGRIDSLC9A3R2
IntegromeDBSLC9A3R2
STRING (EMBL)SLC9A3R2
Ontologies - Pathways
QuickGOQ15599
Ontology : AmiGOreceptor binding  protein binding  nucleus  cytoplasm  plasma membrane  protein complex assembly  beta-catenin binding  protein C-terminus binding  endomembrane system  negative regulation of phosphatidylinositol 3-kinase signaling  apical plasma membrane  phosphatase binding  extracellular vesicular exosome  
Ontology : EGO-EBIreceptor binding  protein binding  nucleus  cytoplasm  plasma membrane  protein complex assembly  beta-catenin binding  protein C-terminus binding  endomembrane system  negative regulation of phosphatidylinositol 3-kinase signaling  apical plasma membrane  phosphatase binding  extracellular vesicular exosome  
Pathways : KEGGAldosterone-regulated sodium reabsorption   
Protein Interaction DatabaseSLC9A3R2
Wikipedia pathwaysSLC9A3R2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SLC9A3R2
SNP (GeneSNP Utah)SLC9A3R2
SNP : HGBaseSLC9A3R2
Genetic variants : HAPMAPSLC9A3R2
1000_GenomesSLC9A3R2 
ICGC programENSG00000065054 
CONAN: Copy Number AnalysisSLC9A3R2 
Somatic Mutations in Cancer : COSMICSLC9A3R2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)16:2076869-2089027
Mutations and Diseases : HGMDSLC9A3R2
OMIM606553   
MedgenSLC9A3R2
GENETestsSLC9A3R2
Disease Genetic AssociationSLC9A3R2
Huge Navigator SLC9A3R2 [HugePedia]  SLC9A3R2 [HugeCancerGEM]
Genomic VariantsSLC9A3R2  SLC9A3R2 [DGVbeta]
Exome VariantSLC9A3R2
dbVarSLC9A3R2
ClinVarSLC9A3R2
snp3D : Map Gene to Disease9351
General knowledge
Homologs : HomoloGeneSLC9A3R2
Homology/Alignments : Family Browser (UCSC)SLC9A3R2
Phylogenetic Trees/Animal Genes : TreeFamSLC9A3R2
Chemical/Protein Interactions : CTD9351
Chemical/Pharm GKB GenePA35932
Clinical trialSLC9A3R2
Cancer Resource (Charite)ENSG00000065054
Other databases
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
CoreMineSLC9A3R2
GoPubMedSLC9A3R2
iHOPSLC9A3R2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:57:39 CET 2014

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