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PRPSAP2 (phosphoribosyl pyrophosphate synthetase associated protein 2)

Identity

Alias_namesphosphoribosyl pyrophosphate synthetase-associated protein 2
Alias_symbol (synonym)PAP41
Other alias
HGNC (Hugo) PRPSAP2
LocusID (NCBI) 5636
Atlas_Id 72257
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 18856299 and ends at 18931286 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC144B (17p11.2) / PRPSAP2 (17p11.2)PRPSAP2 (17p11.2) / EEPD1 (7p14.2)PRPSAP2 (17p11.2) / FBXW10 (17p11.2)
PRPSAP2 (17p11.2) / LFNG (7p22.3)PRPSAP2 (17p11.2) / MR1 (1q25.3)ZNF343 (20p13) / PRPSAP2 (17p11.2)

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

 


External links

Nomenclature
HGNC (Hugo)PRPSAP2   9467
Cards
Entrez_Gene (NCBI)PRPSAP2  5636  phosphoribosyl pyrophosphate synthetase associated protein 2
AliasesPAP41
GeneCards (Weizmann)PRPSAP2
Ensembl hg19 (Hinxton)ENSG00000141127 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141127 [Gene_View]  chr17:18856299-18931286 [Contig_View]  PRPSAP2 [Vega]
ICGC DataPortalENSG00000141127
TCGA cBioPortalPRPSAP2
AceView (NCBI)PRPSAP2
Genatlas (Paris)PRPSAP2
WikiGenes5636
SOURCE (Princeton)PRPSAP2
Genetics Home Reference (NIH)PRPSAP2
Genomic and cartography
GoldenPath hg38 (UCSC)PRPSAP2  -     chr17:18856299-18931286 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPSAP2  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblPRPSAP2 - 17p11.2 [CytoView hg19]  PRPSAP2 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIPRPSAP2 [Mapview hg19]  PRPSAP2 [Mapview hg38]
OMIM603762   
Gene and transcription
Genbank (Entrez)AB007851 AI379788 AI955172 AK126398 AK303911
RefSeq transcript (Entrez)NM_001243936 NM_001243940 NM_001243941 NM_001243942 NM_002767
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPSAP2
Cluster EST : UnigeneHs.632236 [ NCBI ]
CGAP (NCI)Hs.632236
Alternative Splicing GalleryENSG00000141127
Gene ExpressionPRPSAP2 [ NCBI-GEO ]   PRPSAP2 [ EBI - ARRAY_EXPRESS ]   PRPSAP2 [ SEEK ]   PRPSAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPSAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5636
GTEX Portal (Tissue expression)PRPSAP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60256   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60256  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60256
Splice isoforms : SwissVarO60256
PhosPhoSitePlusO60256
Domains : Interpro (EBI)Pribosyltran_N    PRibTrfase_dom    PRTase-like    Rib-P_diPkinase   
Domain families : Pfam (Sanger)Pribosyl_synth (PF14572)    Pribosyltran_N (PF13793)   
Domain families : Pfam (NCBI)pfam14572    pfam13793   
Conserved Domain (NCBI)PRPSAP2
DMDM Disease mutations5636
Blocks (Seattle)PRPSAP2
PDB (SRS)2JI4   
PDB (PDBSum)2JI4   
PDB (IMB)2JI4   
PDB (RSDB)2JI4   
Structural Biology KnowledgeBase2JI4   
SCOP (Structural Classification of Proteins)2JI4   
CATH (Classification of proteins structures)2JI4   
SuperfamilyO60256
Human Protein AtlasENSG00000141127
Peptide AtlasO60256
HPRD04789
IPIIPI00003168   IPI00942171   IPI01011337   IPI00796213   IPI00445190   IPI00795423   IPI00796690   IPI00798249   IPI00788900   IPI00789576   
Protein Interaction databases
DIP (DOE-UCLA)O60256
IntAct (EBI)O60256
FunCoupENSG00000141127
BioGRIDPRPSAP2
STRING (EMBL)PRPSAP2
ZODIACPRPSAP2
Ontologies - Pathways
QuickGOO60256
Ontology : AmiGOmagnesium ion binding  ribose phosphate diphosphokinase complex  ribose phosphate diphosphokinase activity  enzyme inhibitor activity  protein binding  nucleobase-containing compound metabolic process  nucleoside metabolic process  nucleotide biosynthetic process  negative regulation of catalytic activity  protein complex  bone development  
Ontology : EGO-EBImagnesium ion binding  ribose phosphate diphosphokinase complex  ribose phosphate diphosphokinase activity  enzyme inhibitor activity  protein binding  nucleobase-containing compound metabolic process  nucleoside metabolic process  nucleotide biosynthetic process  negative regulation of catalytic activity  protein complex  bone development  
NDEx NetworkPRPSAP2
Atlas of Cancer Signalling NetworkPRPSAP2
Wikipedia pathwaysPRPSAP2
Orthology - Evolution
OrthoDB5636
GeneTree (enSembl)ENSG00000141127
Phylogenetic Trees/Animal Genes : TreeFamPRPSAP2
HOVERGENO60256
HOGENOMO60256
Homologs : HomoloGenePRPSAP2
Homology/Alignments : Family Browser (UCSC)PRPSAP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPSAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPSAP2
dbVarPRPSAP2
ClinVarPRPSAP2
1000_GenomesPRPSAP2 
Exome Variant ServerPRPSAP2
ExAC (Exome Aggregation Consortium)PRPSAP2 (select the gene name)
Genetic variants : HAPMAP5636
Genomic Variants (DGV)PRPSAP2 [DGVbeta]
DECIPHERPRPSAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPSAP2 
Mutations
ICGC Data PortalPRPSAP2 
TCGA Data PortalPRPSAP2 
Broad Tumor PortalPRPSAP2
OASIS PortalPRPSAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPSAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPSAP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PRPSAP2
DgiDB (Drug Gene Interaction Database)PRPSAP2
DoCM (Curated mutations)PRPSAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPSAP2 (select a term)
intoGenPRPSAP2
Cancer3DPRPSAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603762   
Orphanet
MedgenPRPSAP2
Genetic Testing Registry PRPSAP2
NextProtO60256 [Medical]
TSGene5636
GENETestsPRPSAP2
Target ValidationPRPSAP2
Huge Navigator PRPSAP2 [HugePedia]
snp3D : Map Gene to Disease5636
BioCentury BCIQPRPSAP2
ClinGenPRPSAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5636
Chemical/Pharm GKB GenePA33822
Clinical trialPRPSAP2
Miscellaneous
canSAR (ICR)PRPSAP2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPSAP2
EVEXPRPSAP2
GoPubMedPRPSAP2
iHOPPRPSAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:37:29 CEST 2017

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