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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

MalaCards

(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 plasmid: PGAP2 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

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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	Novus Biologicals PGAP2 Lysate
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	Cloud-Clone Corp. Proteins for PGAP2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): 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 to membrane	IEA	--

PGAP2 for ontologies About GeneDecksing

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(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 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 - 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 plasmid: PGAP2 3' UTR sequence

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PGAP2
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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 Central^TM Interacting Genes and Proteins Networks for PGAP2

1 Interacting protein for PGAP2 (Q9UHJ9³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBPMS	Q93062³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006506	GPI anchor biosynthetic process	ISS	--
GO:0006974	response to DNA damage stimulus	--	--
GO:0015031	protein transport	--	--
GO:0042770	signal transduction in response to DNA damage	IEA	--
GO:0043066	negative 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 plasmid: PGAP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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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

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

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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

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
				--	--	--		--	--
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	--	--	--	--
rs181655120^1,2		--	3561531(+)	`GAGTGC/TGCACC`	5	--	us2k¹		0	--	--	--	--
rs146591533^1,2		--	3561534(+)	`TGCGCA/CCCTTC`	5	--	us2k¹		0	--	--	--	--
rs187614360^1,2		--	3561536(+)	`CGCACC/TTTCTC`	5	--	us2k¹		0	--	--	--	--
rs190351065^1,2		--	3561537(+)	`GCACCC/TTCTCC`	5	--	us2k¹		0	--	--	--	--
rs77155510^1,2	C,F	--	3561567(+)	`AGTGCG/ATCTGA`	5	--	us2k¹		2		CSA 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 ID	Type	Subtype	PubMed ID
dgv190n67	CNV	Loss	20364138

Human Gene Mutation Database (HGMD): PGAP2

SABiosciences Cancer Mutation 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.)
About This Section

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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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)
PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. (PubMed id 16407401)^{1, 3} Tashima Y....Maeda Y. (2006)
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)
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)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (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. (2006)
Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
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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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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