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PGAP2 Gene

protein-coding   GIFtS: 46
GCID: GC11P003818

Post-GPI Attachment To Proteins 2

(Previous names: mental retardation, non-syndromic, autosomal recessive,...)
(Previous symbol: MRT21)
  See PGAP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Post-GPI Attachment To Proteins 21 2     HPMRS32 5
MRT211 2 5     MRT172 5
FRAG12 3 5     Cell Wall Biogenesis 43 N-Terminal Homolog (S. Cerevisiae)1
Mental Retardation, Non-Syndromic, Autosomal Recessive, 211 2     CWH43-N2
FGF Receptor Activating Protein 11 2     Cell Wall Biogenesis 43 N-Terminal Homolog2
FGF Receptor-Activating Protein 12 3     Post-GPI Attachment To Proteins Factor 22

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PGAP2 Gene:
PGAP2 (post-GPI attachment to proteins 2) is a protein-coding gene. Diseases associated with PGAP2 include hyperphosphatasia with mental retardation syndrome 3, and hyperphosphatasia with mental retardation syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PGAP2
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9 (See protein sequence)
Recommended Name: Post-GPI attachment to proteins factor 2  
Size: 254 amino acids; 29400 Da
Subunit: Interacts with PGAP2IP (By similarity)
Secondary accessions: E9PJG5 H7BXL9 Q6UC77 Q96G66 Q9UF01 Q9Y4N1
Alternative splicing: 5 isoforms:  Q9UHJ9-1   Q9UHJ9-2   Q9UHJ9-3   Q9UHJ9-4   Q9UHJ9-5   (No experimental confirmation available)

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

Explore proteomics data for PGAP2 at MOPED


See PGAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with PGAP2           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0008565protein transporter activity ISS--
     
Find genes that share ontologies with PGAP2           About GenesLikeMe


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

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PGAP2
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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PGAP2

miRNA
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Block miRNA regulation of human, mouse, rat PGAP2 using miScript Target Protectors
18 qRT-PCR Assays for microRNAs that regulate PGAP2 (see first 8):
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*
hsa-miR-374b* hsa-miR-3163 hsa-miR-34c-5p hsa-miR-4271 hsa-miR-449b hsa-miR-4282 hsa-miR-612 hsa-miR-34a
hsa-miR-518a-5p hsa-miR-29b
SwitchGear 3'UTR luciferase reporter plasmidPGAP2 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat PGAP2

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGAP2

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAP2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PGAP2_HUMAN, Q9UHJ9: Golgi apparatus membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum
membrane; Multi-pass membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
golgi apparatus5
plasma membrane3
nucleus2

Gene Ontology (GO): 4 cellular component terms:    About this table

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

Find genes that share ontologies with PGAP2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PGAP2
Interactions:

    Search GeneGlobe Interaction Network for PGAP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

Selected Interacting proteins for PGAP2 (Q9UHJ93 ENSP000002782434) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
InteractantInteraction Details
GeneCardExternal ID(s)
RBPMSQ930623I2D: score=1 
MOGSENSP000002336164STRING: ENSP00000233616
PKN1ENSP000003433254STRING: ENSP00000343325
PKN2ENSP000003595524STRING: ENSP00000359552
PKN3ENSP000002919064STRING: ENSP00000291906
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006506GPI anchor biosynthetic process ISS--
GO:0006974cellular response to DNA damage stimulus ----
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage ----
GO:0015031protein transport ----
GO:0042770signal transduction in response to DNA damage IEA--

Find genes that share ontologies with PGAP2           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
Selected 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
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Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for PGAP2
Predesigned siRNA for gene silencing in human, mouse, rat PGAP2
Clone
Products:
     
OriGene clones in human, mouse for PGAP2 (see all 18)
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)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGAP2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGAP2
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for PGAP2
Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat PGAP2
  QuantiTect SYBR Green Assays in human, mouse, rat PGAP2
  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 

Selected AceView cDNA sequences (see all 181):

AL536013 AI630277 AA887726 BG680994 AL558782 CR626434 CD675113 CB139696 
CR618702 BM455898 CR605507 BI766112 CK819763 CR622521 CD675009 BI768071 
CR604431 BU633622 CR619655 CR607759 BX439615 CR608371 CR590396 CR613312 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PGAP2 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 2) fully expand
 
 Gut Tube (Gastrointestinal Tract)
         Hindgut
 
 Ovary (Reproductive System)
         Mature Granulosa Cells Antral Follicle
PGAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PGAP2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.133968

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

    Custom PCR Arrays for PGAP2
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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)
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This gene was present in the common ancestor of animals.

Orthologs for PGAP2 gene from Selected species (see all 12)    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 LOC1008596321 post-GPI attachment to proteins factor 2-like 72.18(n)
70.16(a)
  100859632  XM_004938981.1  XP_004939038.1 
lizard
(Anolis carolinensis)
Reptilia PGAP26
post-GPI attachment to proteins 2
53(a)
1 ↔ 1
GL343900.1(80475-100389)
zebrafish
(Danio rerio)
Actinopterygii pgap21 post-GPI attachment to proteins 2 57.52(n)
46.08(a)
  541417  NM_001013544.2  NP_001013562.1 
fruit fly
(Drosophila melanogaster)
Insecta CG38761 CG3876 56.29(n)
48.25(a)
  33258  NM_134704.5  NP_608548.1 
worm
(Caenorhabditis elegans)
Secernentea tag-1891 tag-189 45.66(n)
39.08(a)
  188041  NM_065565.4  NP_497966.2 


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)
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Paralogs for PGAP2 gene

Find genes that share paralogs with PGAP2           About GenesLikeMe


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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PGAP2 (see all 680)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0696644
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)4--see VAR_0696642 R W mis40--------
VAR_0696664
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)4--see VAR_0696662 L S mis40--------
VAR_0696684
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)4--see VAR_0696682 R P mis40--------
VAR_0696674
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)4--see VAR_0696672 T I mis40--------
VAR_0696654
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)4--see VAR_0696652 Y C mis40--------
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--------

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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing PGAP2
DNA2.0 Custom Variant and Variant Library Synthesis for PGAP2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615187   
OMIM disorders: 614207  
UniProtKB/Swiss-Prot: PGAP2_HUMAN, Q9UHJ9
  • Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]: An autosomal recessive
    disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech,
    and increased serum alkaline phosphatase. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 3 diseases for PGAP2:    
    About MalaCards
    hyperphosphatasia with mental retardation syndrome 3    hyperphosphatasia with mental retardation syndrome    hyperphosphatasia with mental retardation syndrome 1


    Find genes that share disorders with PGAP2           About GenesLikeMe


    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 10 sources (see all 13):
    (articles sorted by number of sources associating them with PGAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. (PubMed id 23561846)1, 2, 3 Hansen L....Abou Jamra R. (Am. J. Hum. Genet. 2013)
    2. 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. (Genomics 1999)
    3. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (PubMed id 23561847)1, 2 Krawitz P.M....Horn D. (Am. J. Hum. Genet. 2013)
    4. PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. (PubMed id 16407401)1, 3 Tashima Y....Maeda Y. (Mol. Biol. Cell 2006)
    5. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    9. 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. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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