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R3HDM2 (R3H domain containing 2)

Identity

Alias_symbol (synonym)KIAA1002
Other aliasCAG6
PR01365
HGNC (Hugo) R3HDM2
LocusID (NCBI) 22864
Atlas_Id 54569
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57647548 and ends at 57704246 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
R3HDM2 (12q13.3) / ATP23 (12q14.1)R3HDM2 (12q13.3) / CAPRIN2 (12p11.21)R3HDM2 (12q13.3) / FTL (19q13.33)
R3HDM2 (12q13.3) / NFE2 (12q13.13)R3HDM2 (12q13.3) / PIP4K2C (12q13.3)R3HDM2 (12q13.3) / R3HDM2 (12q13.3)
R3HDM2 (12q13.3) / RP11-571M6.15 ()R3HDM2 (12q13.3) / SORBS2 (4q35.1)R3HDM2 (12q13.3) / SUPT6H (17q11.2)
R3HDM2 12q13.3 / CAPRIN2 12p11.21R3HDM2 12q13.3 / PIP4K2C 12q13.3R3HDM2 12q13.3 RP11-571M6.15
R3HDM2 12q13.3 / SORBS2 4q35.1R3HDM2 12q13.3 / SUPT6H 17q11.2R3HDM2 12q13.3 / XRCC6BP1 12q14.1

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)R3HDM2   29167
Cards
Entrez_Gene (NCBI)R3HDM2  22864  R3H domain containing 2
AliasesCAG6; PR01365
GeneCards (Weizmann)R3HDM2
Ensembl hg19 (Hinxton)ENSG00000179912 [Gene_View]  chr12:57647548-57704246 [Contig_View]  R3HDM2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000179912 [Gene_View]  chr12:57647548-57704246 [Contig_View]  R3HDM2 [Vega]
ICGC DataPortalENSG00000179912
TCGA cBioPortalR3HDM2
AceView (NCBI)R3HDM2
Genatlas (Paris)R3HDM2
WikiGenes22864
SOURCE (Princeton)R3HDM2
Genetics Home Reference (NIH)R3HDM2
Genomic and cartography
GoldenPath hg19 (UCSC)R3HDM2  -     chr12:57647548-57704246 -  12q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)R3HDM2  -     12q13.3   [Description]    (hg38-Dec_2013)
EnsemblR3HDM2 - 12q13.3 [CytoView hg19]  R3HDM2 - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIR3HDM2 [Mapview hg19]  R3HDM2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB023219 AF113695 AK293394 AX775761 AX775763
RefSeq transcript (Entrez)NM_014925
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)R3HDM2
Cluster EST : UnigeneHs.443673 [ NCBI ]
CGAP (NCI)Hs.443673
Alternative Splicing GalleryENSG00000179912
Gene ExpressionR3HDM2 [ NCBI-GEO ]   R3HDM2 [ EBI - ARRAY_EXPRESS ]   R3HDM2 [ SEEK ]   R3HDM2 [ MEM ]
Gene Expression Viewer (FireBrowse)R3HDM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22864
GTEX Portal (Tissue expression)R3HDM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2K5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2K5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2K5
Splice isoforms : SwissVarQ9Y2K5
PhosPhoSitePlusQ9Y2K5
Domaine pattern : Prosite (Expaxy)R3H (PS51061)    SUZ (PS51673)   
Domains : Interpro (EBI)R3H_dom    SUZ   
Domain families : Pfam (Sanger)R3H (PF01424)   
Domain families : Pfam (NCBI)pfam01424   
Domain families : Smart (EMBL)R3H (SM00393)  
Conserved Domain (NCBI)R3HDM2
DMDM Disease mutations22864
Blocks (Seattle)R3HDM2
PDB (SRS)1WHR   
PDB (PDBSum)1WHR   
PDB (IMB)1WHR   
PDB (RSDB)1WHR   
Structural Biology KnowledgeBase1WHR   
SCOP (Structural Classification of Proteins)1WHR   
CATH (Classification of proteins structures)1WHR   
SuperfamilyQ9Y2K5
Human Protein AtlasENSG00000179912
Peptide AtlasQ9Y2K5
HPRD13827
IPIIPI00396041   IPI00001554   IPI01022524   IPI01022974   IPI01022840   IPI00894566   IPI00894433   IPI00894255   IPI00007227   IPI00894017   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2K5
IntAct (EBI)Q9Y2K5
FunCoupENSG00000179912
BioGRIDR3HDM2
STRING (EMBL)R3HDM2
ZODIACR3HDM2
Ontologies - Pathways
QuickGOQ9Y2K5
Ontology : AmiGOprotein binding  nucleus  poly(A) RNA binding  
Ontology : EGO-EBIprotein binding  nucleus  poly(A) RNA binding  
NDEx NetworkR3HDM2
Atlas of Cancer Signalling NetworkR3HDM2
Wikipedia pathwaysR3HDM2
Orthology - Evolution
OrthoDB22864
GeneTree (enSembl)ENSG00000179912
Phylogenetic Trees/Animal Genes : TreeFamR3HDM2
HOVERGENQ9Y2K5
HOGENOMQ9Y2K5
Homologs : HomoloGeneR3HDM2
Homology/Alignments : Family Browser (UCSC)R3HDM2
Gene fusions - Rearrangements
Fusion : MitelmanR3HDM2/CAPRIN2 [12q13.3/12p11.21]  
Fusion : MitelmanR3HDM2/NFE2 [12q13.3/12q13.13]  [del(12)(q13q13)]  
Fusion : MitelmanR3HDM2/PIP4K2C [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanR3HDM2/SORBS2 [12q13.3/4q35.1]  [t(4;12)(q35;q13)]  
Fusion : MitelmanR3HDM2/SUPT6H [12q13.3/17q11.2]  [t(12;17)(q13;q11)]  
Fusion : MitelmanR3HDM2/XRCC6BP1 [12q13.3/12q14.1]  [t(12;12)(q13;q14)]  
Fusion: TCGAR3HDM2 12q13.3 CAPRIN2 12p11.21 LUAD
Fusion: TCGAR3HDM2 12q13.3 PIP4K2C 12q13.3 GBM
Fusion: TCGAR3HDM2 12q13.3 RP11-571M6.15 GBM
Fusion: TCGAR3HDM2 12q13.3 SORBS2 4q35.1 GBM
Fusion: TCGAR3HDM2 12q13.3 SUPT6H 17q11.2 BRCA
Fusion: TCGAR3HDM2 12q13.3 XRCC6BP1 12q14.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerR3HDM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)R3HDM2
dbVarR3HDM2
ClinVarR3HDM2
1000_GenomesR3HDM2 
Exome Variant ServerR3HDM2
ExAC (Exome Aggregation Consortium)R3HDM2 (select the gene name)
Genetic variants : HAPMAP22864
Genomic Variants (DGV)R3HDM2 [DGVbeta]
DECIPHER (Syndromes)12:57647548-57704246  ENSG00000179912
CONAN: Copy Number AnalysisR3HDM2 
Mutations
ICGC Data PortalR3HDM2 
TCGA Data PortalR3HDM2 
Broad Tumor PortalR3HDM2
OASIS PortalR3HDM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICR3HDM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDR3HDM2
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 R3HDM2
DgiDB (Drug Gene Interaction Database)R3HDM2
DoCM (Curated mutations)R3HDM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)R3HDM2 (select a term)
intoGenR3HDM2
Cancer3DR3HDM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenR3HDM2
Genetic Testing Registry R3HDM2
NextProtQ9Y2K5 [Medical]
TSGene22864
GENETestsR3HDM2
Huge Navigator R3HDM2 [HugePedia]
snp3D : Map Gene to Disease22864
BioCentury BCIQR3HDM2
ClinGenR3HDM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22864
Chemical/Pharm GKB GenePA143485590
Clinical trialR3HDM2
Miscellaneous
canSAR (ICR)R3HDM2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineR3HDM2
EVEXR3HDM2
GoPubMedR3HDM2
iHOPR3HDM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:16:23 CEST 2017

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