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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PGAP2 Gene

protein-coding   GIFtS: 43
GCID: GC11P003818

Post-GPI Attachment To Proteins 2

  Search for PGAP2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Post-GPI Attachment To Proteins 21 2     HPMRS32
FGF Receptor Activating Protein 11 2     MRT172
FRAG12 3     MRT212
FGF Receptor-Activating Protein 12 3     Cell Wall Biogenesis 43 N-Terminal Homolog2
Cell Wall Biogenesis 43 N-Terminal Homolog (S. Cerevisiae)1     Post-GPI Attachment To Proteins Factor 22
CWH43-N2     

External Ids:    HGNC: 178931   Entrez Gene: 273152   Ensembl: ENSG000001489857   OMIM: 6151875   UniProtKB: Q9UHJ93   

Export aliases for PGAP2 gene to outside databases

Previous GC identifers: GC11P003787 GC11P003552


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for PGAP2 Gene: 
PGAP2 (post-GPI attachment to proteins 2) is a protein-coding gene. GO annotations related to this gene include protein transporter activity.

UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9
Function: Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of
GPI-anchored proteins at the cell surface (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PGAP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPGAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PGAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PGAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

PGAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PGAP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P003818:  view genomic region     (about GC identifiers)

Start:
3,818,954 bp from pter      End:
3,847,601 bp from pter
Size:
28,648 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9 (See protein sequence)
Recommended Name: Post-GPI attachment to proteins factor 2  
Size: 315 amino acids; 36417 Da
Subunit: Interacts with PGAP2IP (By similarity)
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum
membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: E9PJG5 Q6UC77 Q96G66 Q9UF01 Q9Y4N1
Alternative splicing: 4 isoforms:  Q9UHJ9-1   Q9UHJ9-2   Q9UHJ9-3   Q9UHJ9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PGAP2: NX_Q9UHJ9

Explore proteomics data for PGAP2 at MOPED 

PGAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

PGAP2 Protein Expression

REFSEQ proteins (11 alternative transcripts): 
NP_001138910.1  NP_001243164.1  NP_001243165.1  NP_001243166.1  NP_001243167.1  NP_001243168.1  NP_001243169.1  NP_001269967.1  
NP_001269968.1  NP_001269969.1  NP_055304.1  

ENSEMBL proteins: 
 ENSP00000432215   ENSP00000380183   ENSP00000300730   ENSP00000431691   ENSP00000432160  
 ENSP00000432123   ENSP00000433377   ENSP00000433748   ENSP00000434772   ENSP00000434088  
 ENSP00000435703   ENSP00000434631   ENSP00000434419   ENSP00000437203   ENSP00000435799  
 ENSP00000434401   ENSP00000431851   ENSP00000278243   ENSP00000435223   ENSP00000435338  
 ENSP00000432721   ENSP00000434507   ENSP00000380190   ENSP00000380188  

Human Recombinant Protein Products for PGAP2: 
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OriGene Protein Over-expression Lysate for PGAP2
OriGene Custom MassSpec 
OriGene Custom Protein Services for PGAP2
GenScript Custom Purified and Recombinant Proteins Services for PGAP2
Novus Biologicals PGAP2 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for PGAP2 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) (see first 5):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane ISS--
GO:0005634nucleus IEA--
GO:0005789endoplasmic reticulum membrane ISS--
GO:0016021integral to membrane IEA--

PGAP2 for ontologies           About GeneDecksing



PGAP2 Antibody Products: 
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Cloud-Clone Corp. Antibodies for PGAP2 
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LSBio Antibodies in human, mouse, rat for PGAP2 

Assay Products for PGAP2: 
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Cloud-Clone Corp. ELISAs for PGAP2 
Cloud-Clone Corp. CLIAs for PGAP2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR019402 Frag1/DRAM/Sfk1

Graphical View of Domain Structure for InterPro Entry Q9UHJ9

ProtoNet protein and cluster: Q9UHJ9

UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9
Similarity: Belongs to the PGAP2 family


PGAP2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: PGAP2_HUMAN, Q9UHJ9
Function: Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of
GPI-anchored proteins at the cell surface (By similarity)

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0008565protein transporter activity ISS--
     
PGAP2 for ontologies           About GeneDecksing


Phenotypes:
     3 GenomeRNAi human phenotypes for PGAP2:
 Decreased homologous recombina  Decreased nuclei size in G2M  Synthetic lethal with imatinib 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for PGAP2 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PGAP2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PGAP2 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PGAP2 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PGAP2
8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate PGAP2 (see all 18):
hsa-miR-29a hsa-miR-29c hsa-miR-578 hsa-miR-1285 hsa-miR-449a hsa-miR-4314 hsa-miR-3613-3p hsa-miR-103a-2*
SwitchGear 3'UTR luciferase reporter plasmidPGAP2 3' UTR sequence
Inhib. RNA
Products:
    
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PGAP2

Gene Editing
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Clone
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OriGene ORF clones in mouse, rat for PGAP2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): PGAP2 (NM_014489)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGAP2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGAP2
Sirion Biotech Customized lentivirus for stable overexpression of PGAP2 
                     Customized lentivirus expression plasmids for stable overexpression of PGAP2 

Cell Line
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GenScript Custom overexpressing Cell Line Services for PGAP2
Search LifeMap BioReagents cell lines for PGAP2
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAP2


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PGAP2

1 Interacting protein for PGAP2 (Q9UHJ93) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RBPMSQ930623I2D: score=1 
About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006506GPI anchor biosynthetic process ISS--
GO:0006974response to DNA damage stimulus ----
GO:0015031protein transport ----
GO:0042770signal transduction in response to DNA damage IEA--
GO:0043066negative regulation of apoptotic process IEA--

PGAP2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PGAP2

Search CenterWatch for drugs/clinical trials and news about PGAP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PGAP2 gene (11 alternative transcripts): 
NM_001145438.2  NM_001256235.1  NM_001256236.1  NM_001256237.1  NM_001256238.1  NM_001256239.1  NM_001256240.1  NM_001283038.1  
NM_001283039.1  NM_001283040.1  NM_014489.3  

Unigene Cluster for PGAP2:

Post-GPI attachment to proteins 2
Hs.133968  [show with all ESTs]
Unigene Representative Sequence: AL049261
18/38 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):
ENST00000528216(uc001lyl.3 uc010qya.2 uc021qcm.1) ENST00000396986
ENST00000300730(uc010qxy.2 uc001lyn.4) ENST00000532535 ENST00000492246
ENST00000465237 ENST00000477358 ENST00000532523(uc010qyb.2) ENST00000459679
ENST00000464229 ENST00000464261 ENST00000490830 ENST00000464906 ENST00000524661
ENST00000485602 ENST00000475884 ENST00000489571 ENST00000464441
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PGAP2
8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate PGAP2 (see all 18):
hsa-miR-29a hsa-miR-29c hsa-miR-578 hsa-miR-1285 hsa-miR-449a hsa-miR-4314 hsa-miR-3613-3p hsa-miR-103a-2*
SwitchGear 3'UTR luciferase reporter plasmidPGAP2 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PGAP2
Clone
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OriGene ORF clones in mouse, rat for PGAP2
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GenScript: all cDNA clones in your preferred vector (see all 2): PGAP2 (NM_014489)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGAP2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGAP2
Sirion Biotech Customized lentivirus for stable overexpression of PGAP2 
                     Customized lentivirus expression plasmids for stable overexpression of PGAP2 
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for PGAP2
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PGAP2
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PGAP2

Additional mRNA sequence: 

AF159615.1 AK292181.1 AK295202.1 AK301991.1 AK307359.1 AK308525.1 AL049261.1 AL096753.1 
AY373030.1 BC009930.2 NR_027016.2 NR_027017.2 NR_027018.2 NR_045923.1 NR_045925.1 NR_045926.1 
NR_045927.1 NR_045929.1 

24 DOTS entries:

DT.40195817  DT.100792432  DT.100792435  DT.100792434  DT.210956  DT.91774883  DT.95216334  DT.100792424 
DT.100838638  DT.91774878  DT.120743834  DT.120744078  DT.95216338  DT.100792427  DT.100792436  DT.95216335 
DT.100697959  DT.100810074  DT.102835283  DT.120744033  DT.92017388  DT.95216332  DT.95360068  DT.120744669 

24/181 AceView cDNA sequences (see all 181):

CR607759 BG680994 CR618702 BU633622 CD675113 AI200931 BM455898 BU932053 
AW407127 CR626434 CR622521 AI630277 AY373030 CR590396 CK819763 CR605507 
CB139696 CR619655 BX439615 CD675009 BM923932 CR608371 AL536013 CR613312 

GeneLoc Exon Structure

5/24 Alternative Splicing Database (ASD) splice patterns (SP) for PGAP2 (see all 24)    About this scheme

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10 ^ 11a · 11b ·
SP1:                                                  -           -     -     -           -     -                             -     -     -     -               
SP2:                                                  -     -     -     -     -           -     -                             -     -     -     -               
SP3:                                      -     -     -     -     -     -     -           -     -                       -     -     -     -     -               
SP4:                                                  -     -     -     -     -           -     -                       -     -     -     -                     
SP5:                                      -     -     -     -     -     -                 -     -                       -     -     -     -     -               

ExUns: 11c ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g · 12h
SP1:                                                      
SP2:                                                      
SP3:                                                      
SP4:                                                      
SP5:                                                      


ECgene alternative splicing isoforms for PGAP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PGAP2 expression in normal human tissues (normalized intensities)      PGAP2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTTTCTTC
PGAP2 Expression
About this image


PGAP2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Gut Tube (Gastrointestinal Tract)
         Hindgut
 
 Ovary (Reproductive System)
         Mature Granulosa Cells Antral Follicle

 -- (Reproductive System)
         penis   

See PGAP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PGAP2

SOURCE GeneReport for Unigene cluster: Hs.133968

UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9
Tissue specificity: Ubiquitously expressed, with highest levels in testis and pancreas

    SABiosciences Custom PCR Arrays for PGAP2
Primer
Products:
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Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat PGAP2
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PGAP2
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PGAP2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAP2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PGAP2 gene from 6/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pgap25 post-GPI attachment to proteins 2   --   7 (54.71 cM) 102210208 
chicken
(Gallus gallus)
Aves PGAP26
post-GPI attachment to proteins 2
59(a)
1 ↔ 1
1(193849402-193867123)
lizard
(Anolis carolinensis)
Reptilia PGAP26
post-GPI attachment to proteins 2
53(a)
1 ↔ 1
GL343900.1(80475-100389)
zebrafish
(Danio rerio)
Actinopterygii pgap26
post-GPI attachment to proteins 2
52(a)
1 ↔ 1
21(29736751-29757631)
fruit fly
(Drosophila melanogaster)
Insecta CG38766
CG79906
--
43(a)
26(a)
many → 1
many → 1
2L(818079-819508)
X(19090091-19095810)
worm
(Caenorhabditis elegans)
Secernentea tag-1896
T23B12.56
(see all 5)
Protein T23B12.5
(see all 5)
36(a)
25(a)
(see all 5)
many → 1
many → 1
(see all 5)
III(4705413-4706950)
V(8446608-8447903)


ENSEMBL Gene Tree for PGAP2 (if available)
TreeFam Gene Tree for PGAP2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PGAP2 gene

PGAP2 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for PGAP2
PGOHUM00000244321


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/675 SNPs in PGAP2 are shown (see all 675)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1879657161,2
--3560976(+) ACAGGA/GTTTCA 2 -- us2k10--------
rs1917132781,2
--3561003(+) TGTCTC/TGATCT 2 -- us2k10--------
rs2021923061,2
C--3561079(+) CCCCCA/GCGAGA 2 -- us2k10--------
rs2004727001,2
--3561080(+) CCCCG-/CGAGAC 2 -- us2k10--------
rs1903293031,2
--3561478(+) GGATAA/GGGGAG 5 -- us2k10--------
rs1816551201,2
--3561531(+) GAGTGC/TGCACC 5 -- us2k10--------
rs1465915331,2
--3561534(+) TGCGCA/CCCTTC 5 -- us2k10--------
rs1876143601,2
--3561536(+) CGCACC/TTTCTC 5 -- us2k10--------
rs1903510651,2
--3561537(+) GCACCC/TTCTCC 5 -- us2k10--------
rs771555101,2
C,F--3561567(+) AGTGCG/ATCTGA 5 -- us2k12Minor allele frequency- A:0.09CSA WA 120

HapMap Linkage Disequilibrium report for PGAP2 (3818954 - 3847601 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for PGAP2:    About this table     
Variant IDTypeSubtypePubMed ID
dgv190n67CNV Loss20364138


Human Gene Mutation Database (HGMD): PGAP2
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PGAP2 for disorders           About MalaCards
OMIM gene information: 615187    OMIM disorders: --


PGAP2 for disorders           About GeneDecksing


Export disorders for PGAP2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for PGAP2 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with PGAP2)
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  1. Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer. (PubMed id 10585768)1, 2, 3 Lorenzi M.V.... Miki T. (1999)
  2. PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. (PubMed id 16407401)1, 3 Tashima Y....Maeda Y. (2006)
  3. PGAP2 mutations, affecting the GPI-anchor-synthesis pa thway, cause hyperphosphatasia with mental retardation syndrome. (PubMed id 23561847)1 Krawitz P.M....Horn D. (2013)
  4. Hypomorphic mutations in PGAP2, encoding a GPI-anchor- remodeling protein, cause autosomal-recessive intellectual disability. (PubMed id 23561846)1 Hansen L....Abou Jamra R. (2013)
  5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
  6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  10. Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107413)1 Wistow G.... Peterson K. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 27315 HGNC: 17893 AceView: FRAG1 Ensembl:ENSG00000148985 euGenes: HUgn27315
ECgene: PGAP2 H-InvDB: PGAP2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for PGAP2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for PGAP2 gene:
Search GeneIP for patents involving PGAP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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