Human Gene PGAP2 (uc031pym.1) Description and Page Index
  Description: Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 13, non-coding RNA.
RefSeq Summary (NR_045925): The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017].
Transcript (Including UTRs)
   Position: hg19 chr11:3,819,049-3,847,601 Size: 28,553 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr11:3,819,210-3,846,350 Size: 27,141 Coding Exon Count: 5 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:3,819,049-3,847,601)mRNA (may differ from genome)Protein (131 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsH-INVHGNC
LynxMGIOMIMPubMedStanford SOURCE

-  MalaCards Disease Associations
  MalaCards Gene Search: PGAP2
Diseases sorted by gene-association score: hyperphosphatasia with mental retardation syndrome 3* (1330), hyperphosphatasia-intellectual disability syndrome* (132), hyperphosphatasia with mental retardation syndrome (28), autosomal recessive non-syndromic intellectual disability (3), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.49 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 345.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.93161-0.428 Picture PostScript Text
3' UTR -382.321052-0.363 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AL096753 - Homo sapiens mRNA; cDNA DKFZp434C192 (from clone DKFZp434C192).
AK307359 - Homo sapiens cDNA, FLJ97307.
AK308525 - Homo sapiens cDNA, FLJ98566.
AK292181 - Homo sapiens cDNA FLJ75172 complete cds, highly similar to Homo sapiens FGF receptor activating protein 1 (FRAG1), mRNA.
BC009930 - Homo sapiens FGF receptor activating protein 1, mRNA (cDNA clone MGC:799 IMAGE:3506614), complete cds.
AK301991 - Homo sapiens cDNA FLJ52796 complete cds, highly similar to Homo sapiens FGF receptor activating protein 1 (FRAG1), mRNA.
AK295202 - Homo sapiens cDNA FLJ54959 complete cds.
AF159615 - Homo sapiens FGF receptor activating protein 1 (FRAG1) mRNA, complete cds.
CU679531 - Synthetic construct Homo sapiens gateway clone IMAGE:100018610 5' read FRAG1 mRNA.
KU178608 - Homo sapiens post-GPI attachment to proteins 2 isoform 1 (PGAP2) mRNA, partial cds.
KU178609 - Homo sapiens post-GPI attachment to proteins 2 isoform 2 (PGAP2) mRNA, complete cds, alternatively spliced.
KU178610 - Homo sapiens post-GPI attachment to proteins 2 isoform 3 (PGAP2) mRNA, complete cds.
KU178611 - Homo sapiens post-GPI attachment to proteins 2 isoform 4 (PGAP2) mRNA, partial cds, alternatively spliced.
JF432139 - Synthetic construct Homo sapiens clone IMAGE:100073282 FGF receptor activating protein 1 (FRAG1) gene, encodes complete protein.
KJ902469 - Synthetic construct Homo sapiens clone ccsbBroadEn_11863 PGAP2 gene, encodes complete protein.
AY373030 - Homo sapiens FGF receptor activating protein 1 isoform (FRAG1) mRNA, complete cds; alternatively spliced.
AL049261 - Homo sapiens mRNA; cDNA DKFZp564E053 (from clone DKFZp564E053).
JD052405 - Sequence 33429 from Patent EP1572962.
JD045087 - Sequence 26111 from Patent EP1572962.
JD095933 - Sequence 76957 from Patent EP1572962.
JD323658 - Sequence 304682 from Patent EP1572962.
JD373039 - Sequence 354063 from Patent EP1572962.
JD419913 - Sequence 400937 from Patent EP1572962.
JD233011 - Sequence 214035 from Patent EP1572962.
JD251681 - Sequence 232705 from Patent EP1572962.
JD119843 - Sequence 100867 from Patent EP1572962.
JD112877 - Sequence 93901 from Patent EP1572962.
JD540041 - Sequence 521065 from Patent EP1572962.
JD359461 - Sequence 340485 from Patent EP1572962.
JD226169 - Sequence 207193 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NR_045925, uc010qxy.2
UCSC ID: uc031pym.1
RefSeq Accession: NR_045925

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_045925.1
exon count: 6CDS single in 3' UTR: no RNA size: 1623
ORF size: 396CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 790.00frame shift in genome: no % Coverage: 99.14
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.