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DGCR2 (DiGeorge syndrome critical region gene 2)

Identity

Alias (NCBI)DGS-C
IDD
LAN
SEZ-12
HGNC (Hugo) DGCR2
HGNC Alias symbKIAA0163
LAN
IDD
DGS-C
SEZ-12
HGNC Alias nameintegral membrane protein DGCR2
LocusID (NCBI) 9993
Atlas_Id 62451
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19036282 and ends at 19122454 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)
CYP26A1 (10q23.33) / DGCR2 (22q11.21)DGCR2 (22q11.21) / ANO1 (11q13.3)DGCR2 (22q11.21) / CLTCL1 (22q11.21)
DGCR2 (22q11.21) / DESI1 (22q13.2)DGCR2 (22q11.21) / DGCR2 (22q11.21)DGCR2 (22q11.21) / EHBP1 (2p15)
DGCR2 (22q11.21) / GRN (17q21.31)DGCR2 (22q11.21) / LAMB3 (1q32.2)DGCR2 (22q11.21) / SEC63 (6q21)
PIM1 (6p21.2) / DGCR2 (22q11.21)YPEL5 (2p23.1) / DGCR2 (22q11.21)DGCR2 CLTCL1
DGCR2 PPPDE2DGCR2 ANO1DGCR2 EHBP1

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) [ 5 ]
  t(2;22)(p15;q11) DGCR2/EHBP1
t(6;22)(q21;q11) DGCR2/SEC63
t(11;22)(q13;q11) DGCR2/ANO1
DGCR2/CLTCL1 (22q11)
t(22;22)(q11;q13) DGCR2/DESI1


External links

Nomenclature
HGNC (Hugo)DGCR2   2845
Cards
Entrez_Gene (NCBI)DGCR2    DiGeorge syndrome critical region gene 2
AliasesDGS-C; IDD; LAN; SEZ-12
GeneCards (Weizmann)DGCR2
Ensembl hg19 (Hinxton)ENSG00000070413 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070413 [Gene_View]  ENSG00000070413 [Sequence]  chr22:19036282-19122454 [Contig_View]  DGCR2 [Vega]
ICGC DataPortalENSG00000070413
TCGA cBioPortalDGCR2
AceView (NCBI)DGCR2
Genatlas (Paris)DGCR2
SOURCE (Princeton)DGCR2
Genetics Home Reference (NIH)DGCR2
Genomic and cartography
GoldenPath hg38 (UCSC)DGCR2  -     chr22:19036282-19122454 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DGCR2  -     22q11.21   [Description]    (hg19-Feb_2009)
GoldenPathDGCR2 - 22q11.21 [CytoView hg19]  DGCR2 - 22q11.21 [CytoView hg38]
ImmunoBaseENSG00000070413
genome Data Viewer NCBIDGCR2 [Mapview hg19]  
OMIM192430   600594   
Gene and transcription
Genbank (Entrez)AK291670 AK295697 AK296337 AK303130 AK304382
RefSeq transcript (Entrez)NM_001173533 NM_001173534 NM_001184781 NM_005137
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DGCR2
Alternative Splicing GalleryENSG00000070413
Gene ExpressionDGCR2 [ NCBI-GEO ]   DGCR2 [ EBI - ARRAY_EXPRESS ]   DGCR2 [ SEEK ]   DGCR2 [ MEM ]
Gene Expression Viewer (FireBrowse)DGCR2 [ Firebrowse - Broad ]
GenevisibleExpression of DGCR2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9993
GTEX Portal (Tissue expression)DGCR2
Human Protein AtlasENSG00000070413-DGCR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP98153   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP98153  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP98153
Splice isoforms : SwissVarP98153
PhosPhoSitePlusP98153
Domaine pattern : Prosite (Expaxy)C_TYPE_LECTIN_2 (PS50041)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    VWFC_1 (PS01208)   
Domains : Interpro (EBI)C-type_lectin-like    C-type_lectin-like/link_sf    CTDL_fold    DGCR2-like_CTLD    IDD    LDL_receptor-like_sf    LDLR_class-A_CS    LDrepeatLR_classA_rpt    VWF_dom   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    Lectin_C (PF00059)   
Domain families : Pfam (NCBI)pfam00057    pfam00059   
Domain families : Smart (EMBL)CLECT (SM00034)  LDLa (SM00192)  VWC (SM00214)  
Conserved Domain (NCBI)DGCR2
Blocks (Seattle)DGCR2
SuperfamilyP98153
Human Protein Atlas [tissue]ENSG00000070413-DGCR2 [tissue]
Peptide AtlasP98153
HPRD08999
IPIIPI00024272   IPI01015858   IPI00554656   IPI00956249   IPI00853007   IPI00975536   
Protein Interaction databases
DIP (DOE-UCLA)P98153
IntAct (EBI)P98153
BioGRIDDGCR2
STRING (EMBL)DGCR2
ZODIACDGCR2
Ontologies - Pathways
QuickGOP98153
Ontology : AmiGOcell adhesion  animal organ morphogenesis  integral component of membrane  carbohydrate binding  cognition  
Ontology : EGO-EBIcell adhesion  animal organ morphogenesis  integral component of membrane  carbohydrate binding  cognition  
NDEx NetworkDGCR2
Atlas of Cancer Signalling NetworkDGCR2
Wikipedia pathwaysDGCR2
Orthology - Evolution
OrthoDB9993
GeneTree (enSembl)ENSG00000070413
Phylogenetic Trees/Animal Genes : TreeFamDGCR2
HOGENOMP98153
Homologs : HomoloGeneDGCR2
Homology/Alignments : Family Browser (UCSC)DGCR2
Gene fusions - Rearrangements
Fusion PortalDGCR2 CLTCL1
Fusion PortalDGCR2 PPPDE2
Fusion PortalDGCR2 ANO1
Fusion PortalDGCR2 EHBP1
Fusion : QuiverDGCR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDGCR2 [hg38]
dbVarDGCR2
ClinVarDGCR2
MonarchDGCR2
1000_GenomesDGCR2 
Exome Variant ServerDGCR2
GNOMAD BrowserENSG00000070413
Varsome BrowserDGCR2
Genomic Variants (DGV)DGCR2 [DGVbeta]
DECIPHERDGCR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDGCR2 
Mutations
ICGC Data PortalDGCR2 
TCGA Data PortalDGCR2 
Broad Tumor PortalDGCR2
OASIS PortalDGCR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDGCR2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDGCR2
Mutations and Diseases : HGMDDGCR2
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 DGCR2
DgiDB (Drug Gene Interaction Database)DGCR2
DoCM (Curated mutations)DGCR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DGCR2 (select a term)
intoGenDGCR2
Cancer3DDGCR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192430    600594   
Orphanet
DisGeNETDGCR2
MedgenDGCR2
Genetic Testing Registry DGCR2
NextProtP98153 [Medical]
GENETestsDGCR2
Target ValidationDGCR2
Huge Navigator DGCR2 [HugePedia]
ClinGenDGCR2
Clinical trials, drugs, therapy
MyCancerGenomeDGCR2
Protein Interactions : CTD
Pharm GKB GenePA27307
Clinical trialDGCR2
Miscellaneous
canSAR (ICR)DGCR2 (select the gene name)
HarmonizomeDGCR2
DataMed IndexDGCR2
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDGCR2
EVEXDGCR2
GoPubMedDGCR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:51:45 CET 2020

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