Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RMI2 (RecQ mediated genome instability 2)

Identity

Alias_namesC16orf75
chromosome 16 open reading frame 75
RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)
Alias_symbol (synonym)MGC24665
BLAP18
Other alias
HGNC (Hugo) RMI2
LocusID (NCBI) 116028
Atlas_Id 55063
Location 16p13.13  [Link to chromosome band 16p13]
Location_base_pair Starts at 11439295 and ends at 11445620 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALDH4A1 (1p36.13) / RMI2 (16p13.13)CIITA (16p13.13) / RMI2 (16p13.13)POLR3E (16p12.2) / RMI2 (16p13.13)
RAB4A (1q42.13) / RMI2 (16p13.13)RMI2 (16p13.13) / AGPS (2q31.2)RMI2 (16p13.13) / CACNA1C (12p13.33)
RMI2 (16p13.13) / CIITA (16p13.13)RMI2 (16p13.13) / MED17 (11q21)RMI2 (16p13.13) / MIPEP (13q12.12)
RMI2 (16p13.13) / PLOD1 (1p36.22)RMI2 (16p13.13) / SPATA20 (17q21.33)RMI2 (16p13.13) / USP22 (17p11.2)
TEKT5 (16p13.13) / RMI2 (16p13.13)POLR3E 16p12.2 / RMI2 16p13.13TEKT5 16p13.13 / RMI2 16p13.13

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)RMI2   28349
Cards
Entrez_Gene (NCBI)RMI2  116028  RecQ mediated genome instability 2
AliasesBLAP18; C16orf75
GeneCards (Weizmann)RMI2
Ensembl hg19 (Hinxton)ENSG00000175643 [Gene_View]  chr16:11439295-11445620 [Contig_View]  RMI2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000175643 [Gene_View]  chr16:11439295-11445620 [Contig_View]  RMI2 [Vega]
ICGC DataPortalENSG00000175643
TCGA cBioPortalRMI2
AceView (NCBI)RMI2
Genatlas (Paris)RMI2
WikiGenes116028
SOURCE (Princeton)RMI2
Genetics Home Reference (NIH)RMI2
Genomic and cartography
GoldenPath hg19 (UCSC)RMI2  -     chr16:11439295-11445620 +  16p13.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RMI2  -     16p13.13   [Description]    (hg38-Dec_2013)
EnsemblRMI2 - 16p13.13 [CytoView hg19]  RMI2 - 16p13.13 [CytoView hg38]
Mapping of homologs : NCBIRMI2 [Mapview hg19]  RMI2 [Mapview hg38]
OMIM612426   
Gene and transcription
Genbank (Entrez)AK123764 BC013040 BC022427 BC031016 BC039361
RefSeq transcript (Entrez)NM_152308
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)RMI2
Cluster EST : UnigeneHs.347524 [ NCBI ]
CGAP (NCI)Hs.347524
Alternative Splicing GalleryENSG00000175643
Gene ExpressionRMI2 [ NCBI-GEO ]   RMI2 [ EBI - ARRAY_EXPRESS ]   RMI2 [ SEEK ]   RMI2 [ MEM ]
Gene Expression Viewer (FireBrowse)RMI2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116028
GTEX Portal (Tissue expression)RMI2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96E14   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96E14  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96E14
Splice isoforms : SwissVarQ96E14
PhosPhoSitePlusQ96E14
Domains : Interpro (EBI)RMI2   
Domain families : Pfam (Sanger)RMI2 (PF16100)   
Domain families : Pfam (NCBI)pfam16100   
Conserved Domain (NCBI)RMI2
DMDM Disease mutations116028
Blocks (Seattle)RMI2
PDB (SRS)3MXN    3NBH    4DAY   
PDB (PDBSum)3MXN    3NBH    4DAY   
PDB (IMB)3MXN    3NBH    4DAY   
PDB (RSDB)3MXN    3NBH    4DAY   
Structural Biology KnowledgeBase3MXN    3NBH    4DAY   
SCOP (Structural Classification of Proteins)3MXN    3NBH    4DAY   
CATH (Classification of proteins structures)3MXN    3NBH    4DAY   
SuperfamilyQ96E14
Human Protein AtlasENSG00000175643
Peptide AtlasQ96E14
HPRD14497
IPIIPI00061111   IPI00647591   
Protein Interaction databases
DIP (DOE-UCLA)Q96E14
IntAct (EBI)Q96E14
FunCoupENSG00000175643
BioGRIDRMI2
STRING (EMBL)RMI2
ZODIACRMI2
Ontologies - Pathways
QuickGOQ96E14
Ontology : AmiGODNA synthesis involved in DNA repair  strand displacement  DNA binding  nucleus  nucleoplasm  cytoplasm  DNA replication  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBIDNA synthesis involved in DNA repair  strand displacement  DNA binding  nucleus  nucleoplasm  cytoplasm  DNA replication  regulation of signal transduction by p53 class mediator  
Pathways : KEGGFanconi anemia pathway   
NDEx NetworkRMI2
Atlas of Cancer Signalling NetworkRMI2
Wikipedia pathwaysRMI2
Orthology - Evolution
OrthoDB116028
GeneTree (enSembl)ENSG00000175643
Phylogenetic Trees/Animal Genes : TreeFamRMI2
HOVERGENQ96E14
HOGENOMQ96E14
Homologs : HomoloGeneRMI2
Homology/Alignments : Family Browser (UCSC)RMI2
Gene fusions - Rearrangements
Fusion : MitelmanCIITA/RMI2 [16p13.13/16p13.13]  [t(16;16)(p13;p13)]  
Fusion : MitelmanPOLR3E/RMI2 [16p12.2/16p13.13]  [t(16;16)(p12;p13)]  
Fusion : MitelmanTEKT5/RMI2 [16p13.13/16p13.13]  [t(16;16)(p13;p13)]  
Fusion: TCGAPOLR3E 16p12.2 RMI2 16p13.13 BRCA
Fusion: TCGATEKT5 16p13.13 RMI2 16p13.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRMI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RMI2
dbVarRMI2
ClinVarRMI2
1000_GenomesRMI2 
Exome Variant ServerRMI2
ExAC (Exome Aggregation Consortium)RMI2 (select the gene name)
Genetic variants : HAPMAP116028
Genomic Variants (DGV)RMI2 [DGVbeta]
DECIPHER (Syndromes)16:11439295-11445620  ENSG00000175643
CONAN: Copy Number AnalysisRMI2 
Mutations
ICGC Data PortalRMI2 
TCGA Data PortalRMI2 
Broad Tumor PortalRMI2
OASIS PortalRMI2 [ Somatic mutations - Copy number]
Cancer Gene: CensusRMI2 
Somatic Mutations in Cancer : COSMICRMI2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRMI2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RMI2
DgiDB (Drug Gene Interaction Database)RMI2
DoCM (Curated mutations)RMI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RMI2 (select a term)
intoGenRMI2
Cancer3DRMI2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612426   
Orphanet
MedgenRMI2
Genetic Testing Registry RMI2
NextProtQ96E14 [Medical]
TSGene116028
GENETestsRMI2
Huge Navigator RMI2 [HugePedia]
snp3D : Map Gene to Disease116028
BioCentury BCIQRMI2
ClinGenRMI2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116028
Chemical/Pharm GKB GenePA145149635
Clinical trialRMI2
Miscellaneous
canSAR (ICR)RMI2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRMI2
EVEXRMI2
GoPubMedRMI2
iHOPRMI2
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 Mar 14 13:25:12 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.