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DMXL2 (Dmx like 2)

Identity

Alias (NCBI)DFNA71
EIEE81
PEPNS
RC3
HGNC (Hugo) DMXL2
HGNC Alias symbRC3
KIAA0856
DFNA71
HGNC Alias namerabconnectin 3
LocusID (NCBI) 23312
Atlas_Id 54258
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 51447722 and ends at 51622771 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)
AKAP13 (15q25.3) / DMXL2 (15q21.2)DMXL2 (15q21.2) / MTURN (7p14.3)DMXL2 (15q21.2) / WDR4 (21q22.3)
H19 (11p15.5) / DMXL2 (15q21.2)TP53BP1 (15q15.3) / DMXL2 (15q21.2)TP53BP1 15q15.3 / DMXL2 15q21.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  inv(15)(q21q25) AKAP13/DMXL2
t(15;15)(q15;q21) TP53BP1/DMXL2

External links

Nomenclature
HGNC (Hugo)DMXL2   2938
Cards
Entrez_Gene (NCBI)DMXL2  23312  Dmx like 2
AliasesDFNA71; EIEE81; PEPNS; RC3
GeneCards (Weizmann)DMXL2
Ensembl hg19 (Hinxton)ENSG00000104093 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104093 [Gene_View]  ENSG00000104093 [Sequence]  chr15:51447722-51622771 [Contig_View]  DMXL2 [Vega]
ICGC DataPortalENSG00000104093
TCGA cBioPortalDMXL2
AceView (NCBI)DMXL2
Genatlas (Paris)DMXL2
WikiGenes23312
SOURCE (Princeton)DMXL2
Genetics Home Reference (NIH)DMXL2
Genomic and cartography
GoldenPath hg38 (UCSC)DMXL2  -     chr15:51447722-51622771 -  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMXL2  -     15q21.2   [Description]    (hg19-Feb_2009)
GoldenPathDMXL2 - 15q21.2 [CytoView hg19]  DMXL2 - 15q21.2 [CytoView hg38]
ImmunoBaseENSG00000104093
genome Data Viewer NCBIDMXL2 [Mapview hg19]  
OMIM612186   616113   617605   618663   
Gene and transcription
Genbank (Entrez)AA629921 AB020663 AF389880 AK000156 AK123284
RefSeq transcript (Entrez)NM_001174116 NM_001174117 NM_001378457 NM_001378458 NM_001378459 NM_001378460 NM_001378461 NM_001378462 NM_001378463 NM_001378464 NM_015263
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DMXL2
Alternative Splicing GalleryENSG00000104093
Gene ExpressionDMXL2 [ NCBI-GEO ]   DMXL2 [ EBI - ARRAY_EXPRESS ]   DMXL2 [ SEEK ]   DMXL2 [ MEM ]
Gene Expression Viewer (FireBrowse)DMXL2 [ Firebrowse - Broad ]
GenevisibleExpression of DMXL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23312
GTEX Portal (Tissue expression)DMXL2
Human Protein AtlasENSG00000104093-DMXL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDJ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDJ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDJ6
Splice isoforms : SwissVarQ8TDJ6
PhosPhoSitePlusQ8TDJ6
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Rav1p_C    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Rav1p_C (PF12234)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam12234    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)DMXL2
DMDM Disease mutations23312
Blocks (Seattle)DMXL2
SuperfamilyQ8TDJ6
Human Protein Atlas [tissue]ENSG00000104093-DMXL2 [tissue]
Peptide AtlasQ8TDJ6
HPRD10188
IPIIPI00152542   IPI00979199   IPI00442805   IPI00956271   IPI00896496   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDJ6
IntAct (EBI)Q8TDJ6
FunCoupENSG00000104093
BioGRIDDMXL2
STRING (EMBL)DMXL2
ZODIACDMXL2
Ontologies - Pathways
QuickGOQ8TDJ6
Ontology : AmiGOextracellular space  vacuolar acidification  synaptic vesicle  Rab GTPase binding  synaptic vesicle membrane  RAVE complex  neuronal dense core vesicle  
Ontology : EGO-EBIextracellular space  vacuolar acidification  synaptic vesicle  Rab GTPase binding  synaptic vesicle membrane  RAVE complex  neuronal dense core vesicle  
NDEx NetworkDMXL2
Atlas of Cancer Signalling NetworkDMXL2
Wikipedia pathwaysDMXL2
Orthology - Evolution
OrthoDB23312
GeneTree (enSembl)ENSG00000104093
Phylogenetic Trees/Animal Genes : TreeFamDMXL2
HOGENOMQ8TDJ6
Homologs : HomoloGeneDMXL2
Homology/Alignments : Family Browser (UCSC)DMXL2
Gene fusions - Rearrangements
Fusion : MitelmanAKAP13/DMXL2 [15q25.3/15q21.2]  
Fusion : MitelmanTP53BP1/DMXL2 [15q15.3/15q21.2]  
Fusion PortalTP53BP1 15q15.3 DMXL2 15q21.2 BRCA
Fusion Cancer (Beijing)H19 [11p15.5]  -  DMXL2 [15q21.2]  [FUSC002686]
Fusion : QuiverDMXL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMXL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMXL2
dbVarDMXL2
ClinVarDMXL2
1000_GenomesDMXL2 
Exome Variant ServerDMXL2
GNOMAD BrowserENSG00000104093
Varsome BrowserDMXL2
Genetic variants : HAPMAP23312
Genomic Variants (DGV)DMXL2 [DGVbeta]
DECIPHERDMXL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDMXL2 
Mutations
ICGC Data PortalDMXL2 
TCGA Data PortalDMXL2 
Broad Tumor PortalDMXL2
OASIS PortalDMXL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMXL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDMXL2
Mutations and Diseases : HGMDDMXL2
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 DMXL2
DgiDB (Drug Gene Interaction Database)DMXL2
DoCM (Curated mutations)DMXL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DMXL2 (select a term)
intoGenDMXL2
Cancer3DDMXL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612186    616113    617605    618663   
Orphanet23649   
DisGeNETDMXL2
MedgenDMXL2
Genetic Testing Registry DMXL2
NextProtQ8TDJ6 [Medical]
TSGene23312
GENETestsDMXL2
Target ValidationDMXL2
Huge Navigator DMXL2 [HugePedia]
snp3D : Map Gene to Disease23312
BioCentury BCIQDMXL2
ClinGenDMXL2 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD23312
Pharm GKB GenePA27392
Clinical trialDMXL2
Miscellaneous
canSAR (ICR)DMXL2 (select the gene name)
HarmonizomeDMXL2
DataMed IndexDMXL2
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDMXL2
EVEXDMXL2
GoPubMedDMXL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jul 16 15:10:51 CEST 2020
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