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FXYD2 (FXYD domain containing ion transport regulator 2)

Identity

Alias_namesATP1G1
HOMG2
hypomagnesemia 2
Alias_symbol (synonym)MGC12372
Other alias
HGNC (Hugo) FXYD2
LocusID (NCBI) 486
Atlas_Id 53632
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117820075 and ends at 117824744 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FXYD2 (11q23.3) / UBR3 (2q31.1)

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)FXYD2   4026
Cards
Entrez_Gene (NCBI)FXYD2  486  FXYD domain containing ion transport regulator 2
AliasesATP1G1; HOMG2
GeneCards (Weizmann)FXYD2
Ensembl hg19 (Hinxton)ENSG00000137731 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137731 [Gene_View]  chr11:117820075-117824744 [Contig_View]  FXYD2 [Vega]
ICGC DataPortalENSG00000137731
TCGA cBioPortalFXYD2
AceView (NCBI)FXYD2
Genatlas (Paris)FXYD2
WikiGenes486
SOURCE (Princeton)FXYD2
Genetics Home Reference (NIH)FXYD2
Genomic and cartography
GoldenPath hg38 (UCSC)FXYD2  -     chr11:117820075-117824744 -  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FXYD2  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblFXYD2 - 11q23.3 [CytoView hg19]  FXYD2 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIFXYD2 [Mapview hg19]  FXYD2 [Mapview hg38]
OMIM154020   601814   
Gene and transcription
Genbank (Entrez)AA309757 AA814197 AF241236 AK096069 BC005302
RefSeq transcript (Entrez)NM_001127489 NM_001680 NM_021603
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FXYD2
Cluster EST : UnigeneHs.731865 [ NCBI ]
CGAP (NCI)Hs.731865
Alternative Splicing GalleryENSG00000137731
Gene ExpressionFXYD2 [ NCBI-GEO ]   FXYD2 [ EBI - ARRAY_EXPRESS ]   FXYD2 [ SEEK ]   FXYD2 [ MEM ]
Gene Expression Viewer (FireBrowse)FXYD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)486
GTEX Portal (Tissue expression)FXYD2
Human Protein AtlasENSG00000137731-FXYD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54710   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54710  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54710
Splice isoforms : SwissVarP54710
PhosPhoSitePlusP54710
Domaine pattern : Prosite (Expaxy)FXYD (PS01310)   
Domains : Interpro (EBI)Ion-transport_regulator_FXYD   
Domain families : Pfam (Sanger)ATP1G1_PLM_MAT8 (PF02038)   
Domain families : Pfam (NCBI)pfam02038   
Domain structure : Prodom (Prabi Lyon)PD005989 (PD005989)   
Conserved Domain (NCBI)FXYD2
DMDM Disease mutations486
Blocks (Seattle)FXYD2
PDB (SRS)2MKV   
PDB (PDBSum)2MKV   
PDB (IMB)2MKV   
PDB (RSDB)2MKV   
Structural Biology KnowledgeBase2MKV   
SCOP (Structural Classification of Proteins)2MKV   
CATH (Classification of proteins structures)2MKV   
SuperfamilyP54710
Human Protein Atlas [tissue]ENSG00000137731-FXYD2 [tissue]
Peptide AtlasP54710
HPRD03487
IPIIPI00008178   IPI00219895   IPI00298383   IPI00878079   
Protein Interaction databases
DIP (DOE-UCLA)P54710
IntAct (EBI)P54710
FunCoupENSG00000137731
BioGRIDFXYD2
STRING (EMBL)FXYD2
ZODIACFXYD2
Ontologies - Pathways
QuickGOP54710
Ontology : AmiGOtransporter activity  ion channel activity  sodium:potassium-exchanging ATPase activity  plasma membrane  integral component of plasma membrane  sodium:potassium-exchanging ATPase complex  transport  establishment or maintenance of transmembrane electrochemical gradient  sodium channel regulator activity  ion transmembrane transport  sodium ion export from cell  extracellular exosome  ATP hydrolysis coupled transmembrane transport  regulation of cardiac conduction  potassium ion import across plasma membrane  regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBItransporter activity  ion channel activity  sodium:potassium-exchanging ATPase activity  plasma membrane  integral component of plasma membrane  sodium:potassium-exchanging ATPase complex  transport  establishment or maintenance of transmembrane electrochemical gradient  sodium channel regulator activity  ion transmembrane transport  sodium ion export from cell  extracellular exosome  ATP hydrolysis coupled transmembrane transport  regulation of cardiac conduction  potassium ion import across plasma membrane  regulation of sodium ion transmembrane transporter activity  
Pathways : BIOCARTAOxidative Stress Induced Gene Expression Via Nrf2 [Genes]   
Pathways : KEGG   
NDEx NetworkFXYD2
Atlas of Cancer Signalling NetworkFXYD2
Wikipedia pathwaysFXYD2
Orthology - Evolution
OrthoDB486
GeneTree (enSembl)ENSG00000137731
Phylogenetic Trees/Animal Genes : TreeFamFXYD2
HOVERGENP54710
HOGENOMP54710
Homologs : HomoloGeneFXYD2
Homology/Alignments : Family Browser (UCSC)FXYD2
Gene fusions - Rearrangements
Tumor Fusion PortalFXYD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFXYD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXYD2
dbVarFXYD2
ClinVarFXYD2
1000_GenomesFXYD2 
Exome Variant ServerFXYD2
ExAC (Exome Aggregation Consortium)ENSG00000137731
GNOMAD BrowserENSG00000137731
Genetic variants : HAPMAP486
Genomic Variants (DGV)FXYD2 [DGVbeta]
DECIPHERFXYD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFXYD2 
Mutations
ICGC Data PortalFXYD2 
TCGA Data PortalFXYD2 
Broad Tumor PortalFXYD2
OASIS PortalFXYD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXYD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFXYD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FXYD2
DgiDB (Drug Gene Interaction Database)FXYD2
DoCM (Curated mutations)FXYD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXYD2 (select a term)
intoGenFXYD2
Cancer3DFXYD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154020    601814   
Orphanet10346   
DisGeNETFXYD2
MedgenFXYD2
Genetic Testing Registry FXYD2
NextProtP54710 [Medical]
TSGene486
GENETestsFXYD2
Target ValidationFXYD2
Huge Navigator FXYD2 [HugePedia]
snp3D : Map Gene to Disease486
BioCentury BCIQFXYD2
ClinGenFXYD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD486
Chemical/Pharm GKB GenePA28442
Clinical trialFXYD2
Miscellaneous
canSAR (ICR)FXYD2 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXYD2
EVEXFXYD2
GoPubMedFXYD2
iHOPFXYD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:13:56 CET 2017

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