Human Gene PGAP2 (uc031pyk.1) Description and Page Index
  Description: Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 9, mRNA.
RefSeq Summary (NM_001256237): 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: 7 Strand: +
Coding Region
   Position: hg19 chr11:3,819,074-3,846,350 Size: 27,277 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
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 (291 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsH-INVHGNC
LynxMGIOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: H0YDQ4_HUMAN
DESCRIPTION: SubName: Full=Post-GPI attachment to proteins factor 2; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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 -6.3025-0.252 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019402 - Frag1/DRAM/Sfk1

Pfam Domains:
PF10277 - Frag1/DRAM/Sfk1 family

ModBase Predicted Comparative 3D Structure on H0YDQ4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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: H0YDQ4, H0YDQ4_HUMAN, NM_001256237, NP_001243166, uc010qxw.2
UCSC ID: uc031pyk.1
RefSeq Accession: NM_001256237
Protein: H0YDQ4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001256237.1
exon count: 7CDS single in 3' UTR: no RNA size: 1967
ORF size: 876CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1780.00frame shift in genome: no % Coverage: 99.29
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.