Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GDAP2 (ganglioside induced differentiation associated protein 2)

Identity

Alias_symbol (synonym)FLJ20142
dJ776P7.1
MACROD3
Other aliasSCAR27
HGNC (Hugo) GDAP2
LocusID (NCBI) 54834
Atlas_Id 40697
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 117863485 and ends at 117929679 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)
GDAP2 (1p12) / ADORA3 (1p13.2)GDAP2 (1p12) / DUSP16 (12p13.2)GDAP2 (1p12) / GDAP2 (1p12)
GDAP2 (1p12) / SLAIN1 (13q22.3)GDAP2 (1p12) / SPAG17 (1p12)GDAP2 1p12 / ADORA3 1p13.2
GDAP2 1p12 / SLAIN1 13q22.3GDAP2 1p12 / SPAG17 1p12

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 ]
  t(1;1)(p12;p13) GDAP2/ADORA3
t(1;13)(p12;q22) GDAP2/SLAIN1

External links

Nomenclature
HGNC (Hugo)GDAP2   18010
Cards
Entrez_Gene (NCBI)GDAP2  54834  ganglioside induced differentiation associated protein 2
AliasesMACROD3; SCAR27
GeneCards (Weizmann)GDAP2
Ensembl hg19 (Hinxton)ENSG00000196505 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196505 [Gene_View]  ENSG00000196505 [Sequence]  chr1:117863485-117929679 [Contig_View]  GDAP2 [Vega]
ICGC DataPortalENSG00000196505
TCGA cBioPortalGDAP2
AceView (NCBI)GDAP2
Genatlas (Paris)GDAP2
WikiGenes54834
SOURCE (Princeton)GDAP2
Genetics Home Reference (NIH)GDAP2
Genomic and cartography
GoldenPath hg38 (UCSC)GDAP2  -     chr1:117863485-117929679 -  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GDAP2  -     1p12   [Description]    (hg19-Feb_2009)
GoldenPathGDAP2 - 1p12 [CytoView hg19]  GDAP2 - 1p12 [CytoView hg38]
ImmunoBaseENSG00000196505
Mapping of homologs : NCBIGDAP2 [Mapview hg19]  GDAP2 [Mapview hg38]
OMIM618128   618369   
Gene and transcription
Genbank (Entrez)AA281062 AA825512 AI125031 AK000149 BC013132
RefSeq transcript (Entrez)NM_001135589 NM_017686
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GDAP2
Cluster EST : UnigeneHs.667170 [ NCBI ]
CGAP (NCI)Hs.667170
Alternative Splicing GalleryENSG00000196505
Gene ExpressionGDAP2 [ NCBI-GEO ]   GDAP2 [ EBI - ARRAY_EXPRESS ]   GDAP2 [ SEEK ]   GDAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)GDAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54834
GTEX Portal (Tissue expression)GDAP2
Human Protein AtlasENSG00000196505-GDAP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NXN4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NXN4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NXN4
Splice isoforms : SwissVarQ9NXN4
PhosPhoSitePlusQ9NXN4
Domaine pattern : Prosite (Expaxy)MACRO (PS51154)   
Domains : Interpro (EBI)CRAL-TRIO_dom    CRAL-TRIO_dom_sf    Macro_dom    Macro_GDAP2   
Domain families : Pfam (Sanger)CRAL_TRIO_2 (PF13716)    Macro (PF01661)   
Domain families : Pfam (NCBI)pfam13716    pfam01661   
Domain families : Smart (EMBL)A1pp (SM00506)  SEC14 (SM00516)  
Conserved Domain (NCBI)GDAP2
DMDM Disease mutations54834
Blocks (Seattle)GDAP2
PDB (RSDB)4UML   
PDB Europe4UML   
PDB (PDBSum)4UML   
PDB (IMB)4UML   
Structural Biology KnowledgeBase4UML   
SCOP (Structural Classification of Proteins)4UML   
CATH (Classification of proteins structures)4UML   
SuperfamilyQ9NXN4
Human Protein Atlas [tissue]ENSG00000196505-GDAP2 [tissue]
Peptide AtlasQ9NXN4
HPRD06576
IPIIPI00014952   IPI00643598   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXN4
IntAct (EBI)Q9NXN4
FunCoupENSG00000196505
BioGRIDGDAP2
STRING (EMBL)GDAP2
ZODIACGDAP2
Ontologies - Pathways
QuickGOQ9NXN4
Ontology : AmiGOprotein binding  lysosomal membrane  response to retinoic acid  
Ontology : EGO-EBIprotein binding  lysosomal membrane  response to retinoic acid  
NDEx NetworkGDAP2
Atlas of Cancer Signalling NetworkGDAP2
Wikipedia pathwaysGDAP2
Orthology - Evolution
OrthoDB54834
GeneTree (enSembl)ENSG00000196505
Phylogenetic Trees/Animal Genes : TreeFamGDAP2
HOGENOMQ9NXN4
Homologs : HomoloGeneGDAP2
Homology/Alignments : Family Browser (UCSC)GDAP2
Gene fusions - Rearrangements
Fusion : MitelmanGDAP2/ADORA3 [1p12/1p13.2]  
Fusion : MitelmanGDAP2/SLAIN1 [1p12/13q22.3]  [t(1;13)(p12;q22)]  
Fusion PortalGDAP2 1p12 ADORA3 1p13.2 BRCA
Fusion PortalGDAP2 1p12 SLAIN1 13q22.3 PRAD
Fusion PortalGDAP2 1p12 SPAG17 1p12 BRCA
Fusion : QuiverGDAP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGDAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDAP2
dbVarGDAP2
ClinVarGDAP2
1000_GenomesGDAP2 
Exome Variant ServerGDAP2
ExAC (Exome Aggregation Consortium)ENSG00000196505
GNOMAD BrowserENSG00000196505
Varsome BrowserGDAP2
Genetic variants : HAPMAP54834
Genomic Variants (DGV)GDAP2 [DGVbeta]
DECIPHERGDAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGDAP2 
Mutations
ICGC Data PortalGDAP2 
TCGA Data PortalGDAP2 
Broad Tumor PortalGDAP2
OASIS PortalGDAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGDAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGDAP2
Mutations and Diseases : HGMDGDAP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GDAP2
DgiDB (Drug Gene Interaction Database)GDAP2
DoCM (Curated mutations)GDAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GDAP2 (select a term)
intoGenGDAP2
Cancer3DGDAP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618128    618369   
Orphanet
DisGeNETGDAP2
MedgenGDAP2
Genetic Testing Registry GDAP2
NextProtQ9NXN4 [Medical]
TSGene54834
GENETestsGDAP2
Target ValidationGDAP2
Huge Navigator GDAP2 [HugePedia]
snp3D : Map Gene to Disease54834
BioCentury BCIQGDAP2
ClinGenGDAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54834
Chemical/Pharm GKB GenePA28628
Clinical trialGDAP2
Miscellaneous
canSAR (ICR)GDAP2 (select the gene name)
DataMed IndexGDAP2
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGDAP2
EVEXGDAP2
GoPubMedGDAP2
iHOPGDAP2
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 : Wed Nov 13 17:44:38 CET 2019
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