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XIRP2 (xin actin binding repeat containing 2)

Identity

Alias_namesCMYA3
cardiomyopathy associated 3
Other alias
HGNC (Hugo) XIRP2
LocusID (NCBI) 129446
Atlas_Id 53666
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 167744997 and ends at 168116261 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SDHD (11q23.1) / XIRP2 (2q24.3)XIRP2 (2q24.3) / XIRP2 (2q24.3)

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)XIRP2   14303
Cards
Entrez_Gene (NCBI)XIRP2  129446  xin actin binding repeat containing 2
AliasesCMYA3
GeneCards (Weizmann)XIRP2
Ensembl hg19 (Hinxton)ENSG00000163092 [Gene_View]  chr2:167744997-168116261 [Contig_View]  XIRP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163092 [Gene_View]  chr2:167744997-168116261 [Contig_View]  XIRP2 [Vega]
ICGC DataPortalENSG00000163092
TCGA cBioPortalXIRP2
AceView (NCBI)XIRP2
Genatlas (Paris)XIRP2
WikiGenes129446
SOURCE (Princeton)XIRP2
Genetics Home Reference (NIH)XIRP2
Genomic and cartography
GoldenPath hg19 (UCSC)XIRP2  -     chr2:167744997-168116261 +  2q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)XIRP2  -     2q24.3   [Description]    (hg38-Dec_2013)
EnsemblXIRP2 - 2q24.3 [CytoView hg19]  XIRP2 - 2q24.3 [CytoView hg38]
Mapping of homologs : NCBIXIRP2 [Mapview hg19]  XIRP2 [Mapview hg38]
OMIM609778   
Gene and transcription
Genbank (Entrez)AA665183 AJ626901 AK056582 AK092683 AK096430
RefSeq transcript (Entrez)NM_001079810 NM_001199143 NM_001199144 NM_001199145 NM_152381
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)XIRP2
Cluster EST : UnigeneHs.73680 [ NCBI ]
CGAP (NCI)Hs.73680
Alternative Splicing GalleryENSG00000163092
Gene ExpressionXIRP2 [ NCBI-GEO ]   XIRP2 [ EBI - ARRAY_EXPRESS ]   XIRP2 [ SEEK ]   XIRP2 [ MEM ]
Gene Expression Viewer (FireBrowse)XIRP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129446
GTEX Portal (Tissue expression)XIRP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4UGR9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA4UGR9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4UGR9
Splice isoforms : SwissVarA4UGR9
PhosPhoSitePlusA4UGR9
Domaine pattern : Prosite (Expaxy)XIN (PS51389)   
Domains : Interpro (EBI)Actin-binding_Xin_repeat    XIRP1/XIRP2    XIRP2   
Domain families : Pfam (Sanger)Xin (PF08043)   
Domain families : Pfam (NCBI)pfam08043   
Conserved Domain (NCBI)XIRP2
DMDM Disease mutations129446
Blocks (Seattle)XIRP2
PDB (SRS)4F14   
PDB (PDBSum)4F14   
PDB (IMB)4F14   
PDB (RSDB)4F14   
Structural Biology KnowledgeBase4F14   
SCOP (Structural Classification of Proteins)4F14   
CATH (Classification of proteins structures)4F14   
SuperfamilyA4UGR9
Human Protein AtlasENSG00000163092
Peptide AtlasA4UGR9
HPRD10267
IPIIPI00885004   IPI01015807   IPI00167400   IPI00915318   IPI00893002   IPI00915341   IPI00550232   
Protein Interaction databases
DIP (DOE-UCLA)A4UGR9
IntAct (EBI)A4UGR9
FunCoupENSG00000163092
BioGRIDXIRP2
STRING (EMBL)XIRP2
ZODIACXIRP2
Ontologies - Pathways
QuickGOA4UGR9
Ontology : AmiGOventricular septum development  actin binding  Z disc  actin cytoskeleton organization  cell junction  cell-cell junction organization  alpha-actinin binding  cardiac muscle tissue morphogenesis  
Ontology : EGO-EBIventricular septum development  actin binding  Z disc  actin cytoskeleton organization  cell junction  cell-cell junction organization  alpha-actinin binding  cardiac muscle tissue morphogenesis  
NDEx NetworkXIRP2
Atlas of Cancer Signalling NetworkXIRP2
Wikipedia pathwaysXIRP2
Orthology - Evolution
OrthoDB129446
GeneTree (enSembl)ENSG00000163092
Phylogenetic Trees/Animal Genes : TreeFamXIRP2
HOVERGENA4UGR9
HOGENOMA4UGR9
Homologs : HomoloGeneXIRP2
Homology/Alignments : Family Browser (UCSC)XIRP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXIRP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XIRP2
dbVarXIRP2
ClinVarXIRP2
1000_GenomesXIRP2 
Exome Variant ServerXIRP2
ExAC (Exome Aggregation Consortium)XIRP2 (select the gene name)
Genetic variants : HAPMAP129446
Genomic Variants (DGV)XIRP2 [DGVbeta]
DECIPHER (Syndromes)2:167744997-168116261  ENSG00000163092
CONAN: Copy Number AnalysisXIRP2 
Mutations
ICGC Data PortalXIRP2 
TCGA Data PortalXIRP2 
Broad Tumor PortalXIRP2
OASIS PortalXIRP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXIRP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXIRP2
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 XIRP2
DgiDB (Drug Gene Interaction Database)XIRP2
DoCM (Curated mutations)XIRP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XIRP2 (select a term)
intoGenXIRP2
Cancer3DXIRP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609778   
Orphanet
MedgenXIRP2
Genetic Testing Registry XIRP2
NextProtA4UGR9 [Medical]
TSGene129446
GENETestsXIRP2
Huge Navigator XIRP2 [HugePedia]
snp3D : Map Gene to Disease129446
BioCentury BCIQXIRP2
ClinGenXIRP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD129446
Chemical/Pharm GKB GenePA162409337
Clinical trialXIRP2
Miscellaneous
canSAR (ICR)XIRP2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXIRP2
EVEXXIRP2
GoPubMedXIRP2
iHOPXIRP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:34:25 CET 2017

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