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PGAP2 (post-GPI attachment to proteins 2)

Identity

Alias_namesMRT21
mental retardation
Alias_symbol (synonym)FRAG1
CWH43-N
HGNC (Hugo) PGAP2
LocusID (NCBI) 27315
Atlas_Id 40638
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 3819049 and ends at 3847601 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SBF2 (11p15.4) / PGAP2 (11p15.4)TUBB4B (9q34.3) / PGAP2 (11p15.4)SBF2 11p15.4 / PGAP2 11p15.4

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)PGAP2   17893
Cards
Entrez_Gene (NCBI)PGAP2  27315  post-GPI attachment to proteins 2
AliasesCWH43-N; FRAG1; HPMRS3; MRT17; 
MRT21
GeneCards (Weizmann)PGAP2
Ensembl hg19 (Hinxton)ENSG00000148985 [Gene_View]  chr11:3819049-3847601 [Contig_View]  PGAP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000148985 [Gene_View]  chr11:3819049-3847601 [Contig_View]  PGAP2 [Vega]
ICGC DataPortalENSG00000148985
TCGA cBioPortalPGAP2
AceView (NCBI)PGAP2
Genatlas (Paris)PGAP2
WikiGenes27315
SOURCE (Princeton)PGAP2
Genetics Home Reference (NIH)PGAP2
Genomic and cartography
GoldenPath hg19 (UCSC)PGAP2  -     chr11:3819049-3847601 +  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PGAP2  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblPGAP2 - 11p15.4 [CytoView hg19]  PGAP2 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBIPGAP2 [Mapview hg19]  PGAP2 [Mapview hg38]
OMIM614207   615187   
Gene and transcription
Genbank (Entrez)AF159615 AK130030 AK292181 AK295202 AK301991
RefSeq transcript (Entrez)NM_001145438 NM_001256235 NM_001256236 NM_001256237 NM_001256238 NM_001256239 NM_001256240 NM_001283038 NM_001283039 NM_001283040 NM_014489
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)PGAP2
Cluster EST : UnigeneHs.133968 [ NCBI ]
CGAP (NCI)Hs.133968
Alternative Splicing GalleryENSG00000148985
Gene ExpressionPGAP2 [ NCBI-GEO ]   PGAP2 [ EBI - ARRAY_EXPRESS ]   PGAP2 [ SEEK ]   PGAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27315
GTEX Portal (Tissue expression)PGAP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHJ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHJ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHJ9
Splice isoforms : SwissVarQ9UHJ9
PhosPhoSitePlusQ9UHJ9
Domains : Interpro (EBI)Frag1/DRAM/Sfk1   
Domain families : Pfam (Sanger)Frag1 (PF10277)   
Domain families : Pfam (NCBI)pfam10277   
Conserved Domain (NCBI)PGAP2
DMDM Disease mutations27315
Blocks (Seattle)PGAP2
SuperfamilyQ9UHJ9
Human Protein AtlasENSG00000148985
Peptide AtlasQ9UHJ9
HPRD17016
IPIIPI00383797   IPI01018818   IPI00916016   IPI00442842   IPI00062297   IPI00888091   IPI00978731   IPI00978012   IPI00975922   IPI00981887   IPI00983673   IPI00982422   IPI00977934   IPI00985375   IPI00976585   IPI00975918   IPI00984819   IPI00977247   IPI00981300   IPI00982426   IPI00922242   IPI00979428   IPI00977224   IPI00982098   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHJ9
IntAct (EBI)Q9UHJ9
FunCoupENSG00000148985
BioGRIDPGAP2
STRING (EMBL)PGAP2
ZODIACPGAP2
Ontologies - Pathways
QuickGOQ9UHJ9
Ontology : AmiGOGolgi membrane  protein binding  nucleus  endoplasmic reticulum membrane  GPI anchor biosynthetic process  protein transporter activity  protein transport  integral component of membrane  signal transduction in response to DNA damage  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  
Ontology : EGO-EBIGolgi membrane  protein binding  nucleus  endoplasmic reticulum membrane  GPI anchor biosynthetic process  protein transporter activity  protein transport  integral component of membrane  signal transduction in response to DNA damage  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  
NDEx NetworkPGAP2
Atlas of Cancer Signalling NetworkPGAP2
Wikipedia pathwaysPGAP2
Orthology - Evolution
OrthoDB27315
GeneTree (enSembl)ENSG00000148985
Phylogenetic Trees/Animal Genes : TreeFamPGAP2
HOVERGENQ9UHJ9
HOGENOMQ9UHJ9
Homologs : HomoloGenePGAP2
Homology/Alignments : Family Browser (UCSC)PGAP2
Gene fusions - Rearrangements
Fusion : MitelmanSBF2/PGAP2 [11p15.4/11p15.4]  [t(11;11)(p15;p15)]  
Fusion: TCGASBF2 11p15.4 PGAP2 11p15.4 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAP2
dbVarPGAP2
ClinVarPGAP2
1000_GenomesPGAP2 
Exome Variant ServerPGAP2
ExAC (Exome Aggregation Consortium)PGAP2 (select the gene name)
Genetic variants : HAPMAP27315
Genomic Variants (DGV)PGAP2 [DGVbeta]
DECIPHER (Syndromes)11:3819049-3847601  ENSG00000148985
CONAN: Copy Number AnalysisPGAP2 
Mutations
ICGC Data PortalPGAP2 
TCGA Data PortalPGAP2 
Broad Tumor PortalPGAP2
OASIS PortalPGAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGAP2
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 PGAP2
DgiDB (Drug Gene Interaction Database)PGAP2
DoCM (Curated mutations)PGAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGAP2 (select a term)
intoGenPGAP2
Cancer3DPGAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614207    615187   
Orphanet19518   
MedgenPGAP2
Genetic Testing Registry PGAP2
NextProtQ9UHJ9 [Medical]
TSGene27315
GENETestsPGAP2
Huge Navigator PGAP2 [HugePedia]
snp3D : Map Gene to Disease27315
BioCentury BCIQPGAP2
ClinGenPGAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27315
Chemical/Pharm GKB GenePA165543520
Clinical trialPGAP2
Miscellaneous
canSAR (ICR)PGAP2 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGAP2
EVEXPGAP2
GoPubMedPGAP2
iHOPPGAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:47:18 CET 2016

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