Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC9A3R2 (SLC9A3 regulator 2)

Identity

Other namesE3KARP
NHE3RF2
NHERF-2
NHERF2
OCTS2
SIP-1
SIP1
TKA-1
HGNC (Hugo) SLC9A3R2
LocusID (NCBI) 9351
Atlas_Id 43686
Location 16p13.3
Location_base_pair Starts at 2076869 and ends at 2089027 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC9A3R2 (16p13.3) / RAB1B (11q13.2)

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  SLC9A3 regulator 2
GeneCards (Weizmann)SLC9A3R2
Ensembl hg19 (Hinxton)ENSG00000065054 [Gene_View]  chr16:2076869-2089027 [Contig_View]  SLC9A3R2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000065054 [Gene_View]  chr16:2076869-2089027 [Contig_View]  SLC9A3R2 [Vega]
ICGC DataPortalENSG00000065054
TCGA cBioPortalSLC9A3R2
AceView (NCBI)SLC9A3R2
Genatlas (Paris)SLC9A3R2
WikiGenes9351
SOURCE (Princeton)SLC9A3R2
Genomic and cartography
GoldenPath hg19 (UCSC)SLC9A3R2  -     chr16:2076869-2089027 +  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC9A3R2  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblSLC9A3R2 - 16p13.3 [CytoView hg19]  SLC9A3R2 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBISLC9A3R2 [Mapview hg19]  SLC9A3R2 [Mapview hg38]
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)NC_000016 NC_018927 NT_010393 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 [ EBI - ARRAY_EXPRESS ]   SLC9A3R2 [ SEEK ]   SLC9A3R2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC9A3R2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)9351
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15599 (Uniprot)
NextProtQ15599  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15599
Splice isoforms : SwissVarQ15599 (Swissvar)
PhosPhoSitePlusQ15599
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)EBP50_C-term    NHERF-1/NHERF-2    NHERF-2    PDZ   
Domain families : Pfam (Sanger)EBP50_C (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)SLC9A3R2
PDB (SRS)2D11    2HE4    2OCS    4P0C   
PDB (PDBSum)2D11    2HE4    2OCS    4P0C   
PDB (IMB)2D11    2HE4    2OCS    4P0C   
PDB (RSDB)2D11    2HE4    2OCS    4P0C   
Structural Biology KnowledgeBase2D11    2HE4    2OCS    4P0C   
SCOP (Structural Classification of Proteins)2D11    2HE4    2OCS    4P0C   
CATH (Classification of proteins structures)2D11    2HE4    2OCS    4P0C   
SuperfamilyQ15599
Human Protein AtlasENSG00000065054
Peptide AtlasQ15599
HPRD05946
IPIIPI00385034   IPI00398293   IPI00645815   
Protein Interaction databases
DIP (DOE-UCLA)Q15599
IntAct (EBI)Q15599
FunCoupENSG00000065054
BioGRIDSLC9A3R2
STRING (EMBL)SLC9A3R2
ZODIACSLC9A3R2
Ontologies - Pathways
QuickGOQ15599
Ontology : AmiGOreceptor binding  protein binding  nucleus  cytoplasm  plasma membrane  focal adhesion  protein complex assembly  beta-catenin binding  protein C-terminus binding  endomembrane system  channel regulator activity  apical plasma membrane  phosphatase binding  PDZ domain binding  protein complex scaffold  protein complex  positive regulation of membrane potential  inner ear development  low-density lipoprotein particle receptor binding  extracellular exosome  
Ontology : EGO-EBIreceptor binding  protein binding  nucleus  cytoplasm  plasma membrane  focal adhesion  protein complex assembly  beta-catenin binding  protein C-terminus binding  endomembrane system  channel regulator activity  apical plasma membrane  phosphatase binding  PDZ domain binding  protein complex scaffold  protein complex  positive regulation of membrane potential  inner ear development  low-density lipoprotein particle receptor binding  extracellular exosome  
Pathways : KEGGAldosterone-regulated sodium reabsorption   
NDEx Network
Atlas of Cancer Signalling NetworkSLC9A3R2
Wikipedia pathwaysSLC9A3R2
Orthology - Evolution
OrthoDB9351
GeneTree (enSembl)ENSG00000065054
Phylogenetic Trees/Animal Genes : TreeFamSLC9A3R2
Homologs : HomoloGeneSLC9A3R2
Homology/Alignments : Family Browser (UCSC)SLC9A3R2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC9A3R2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC9A3R2
dbVarSLC9A3R2
ClinVarSLC9A3R2
1000_GenomesSLC9A3R2 
Exome Variant ServerSLC9A3R2
ExAC (Exome Aggregation Consortium)SLC9A3R2 (select the gene name)
SNP (GeneSNP Utah)SLC9A3R2
SNP : HGBaseSLC9A3R2
Genetic variants : HAPMAPSLC9A3R2
Genomic Variants (DGV)SLC9A3R2 [DGVbeta]
Mutations
ICGC Data PortalSLC9A3R2 
TCGA Data PortalSLC9A3R2 
Broad Tumor PortalSLC9A3R2
OASIS PortalSLC9A3R2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC9A3R2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC9A3R2
DgiDB (Drug Gene Interaction Database)SLC9A3R2
DoCM (Curated mutations)SLC9A3R2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC9A3R2 (select a term)
intoGenSLC9A3R2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:2076869-2089027
CONAN: Copy Number AnalysisSLC9A3R2 
Mutations and Diseases : HGMDSLC9A3R2
OMIM606553   
MedgenSLC9A3R2
Genetic Testing Registry SLC9A3R2
NextProtQ15599 [Medical]
TSGene9351
GENETestsSLC9A3R2
Huge Navigator SLC9A3R2 [HugePedia]  SLC9A3R2 [HugeCancerGEM]
snp3D : Map Gene to Disease9351
BioCentury BCIQSLC9A3R2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9351
Chemical/Pharm GKB GenePA35932
Clinical trialSLC9A3R2
Miscellaneous
canSAR (ICR)SLC9A3R2 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (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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indexed on : Sat Apr 16 18:04:47 CEST 2016

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