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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 related diseases
at

MalaCards

(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 1. 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:

NC_000011.10 NT_009237.19 NC_018922.2

Regulatory elements:

Search for regulatory transcription factor binding sites for PGAP2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PGAP2 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

PGAP2 Human Recombinant Protein Products:

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	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

PGAP2 Antibody Products:

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	ThermoFisher Antibodies for PGAP2
	LSBio Antibodies in human, mouse, rat for PGAP2

PGAP2 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for PGAP2
	Browse Enzo Life Sciences for kits & assays
	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)
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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

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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008565	protein 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: Let us create your new Knockout/Knockin mouse model for PGAP2

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:		Block miRNA regulation of human, mouse, rat PGAP2 using miScript Target Protectors
		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 plasmid: PGAP2 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

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for 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)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGAP2
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PGAP2
		Browse ESI BIO Cell Lines and PureStem Progenitors for PGAP2

In Situ Assay
Products:

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:

Compartment	Confidence
endoplasmic reticulum	5
golgi apparatus	5
plasma membrane	3
nucleus	2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	ISS	--
GO:0005634	nucleus	IEA	--
GO:0005789	endoplasmic reticulum membrane	ISS	--
GO:0016021	integral component of membrane	IEA	--

PGAP2 for ontologies About GeneDecksing

(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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBPMS	Q93062³	I2D: score=1
MOGS	ENSP00000233616⁴	STRING: ENSP00000233616
PKN1	ENSP00000343325⁴	STRING: ENSP00000343325
PKN2	ENSP00000359552⁴	STRING: ENSP00000359552
PKN3	ENSP00000291906⁴	STRING: ENSP00000291906

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

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

PGAP2 for ontologies About GeneDecksing

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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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 Products:		Block miRNA regulation of human, mouse, rat PGAP2 using miScript Target Protectors
		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 plasmid: PGAP2 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 Products:		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) PGAP2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TATTTTCTTC

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

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), 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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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_069664⁴		Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)⁴	--	see VAR_069664	2	R W	mis⁴		0	--	--	--	--
VAR_069666⁴		Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)⁴	--	see VAR_069666	2	L S	mis⁴		0	--	--	--	--
VAR_069668⁴		Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)⁴	--	see VAR_069668	2	R P	mis⁴		0	--	--	--	--
VAR_069667⁴		Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)⁴	--	see VAR_069667	2	T I	mis⁴		0	--	--	--	--
VAR_069665⁴		Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)⁴	--	see VAR_069665	2	Y C	mis⁴		0	--	--	--	--
rs187965716^1,2		--	3560976(+)	`ACAGGA/GTTTCA`	2	--	us2k¹		0	--	--	--	--
rs191713278^1,2		--	3561003(+)	`TGTCTC/TGATCT`	2	--	us2k¹		0	--	--	--	--
rs202192306^1,2	C	--	3561079(+)	`CCCCCA/GCGAGA`	2	--	us2k¹		0	--	--	--	--
rs200472700^1,2		--	3561080(+)	`CCCCG-/CGAGAC`	2	--	us2k¹		0	--	--	--	--
rs190329303^1,2		--	3561478(+)	`GGATAA/GGGGAG`	5	--	us2k¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PGAP2: About this table

Variant ID	Type	Subtype	PubMed ID
dgv190n67	CNV	Loss	20364138

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, Conferences by KenesGroup, 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

5 diseases for PGAP2: About MalaCards

hyperphosphatasia with mental retardation syndrome 3 hyperphosphatasia with mental retardation syndrome 1 hyperphosphatasia with mental retardation syndrome intellectual disability

mental retardation

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 10 sources (see all 13):
(articles sorted by number of sources associating them with PGAP2)

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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)
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)
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)
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)
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)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (BMC Genomics 2007)
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)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (Nature 2006)
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)
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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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PGAP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PGAP2 gene
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Patent Information for PGAP2 gene:
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