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PGAP2 Gene(Protein Coding)

Post-GPI Attachment To Proteins 2

GCID:
GC11P003797
GIFtS:
47
Genes Participants
UDN Logo

Aliases for PGAP2 Gene

Aliases for PGAP2 Gene

  • Post-GPI Attachment To Proteins 2 2 3 5
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 21 2 3
  • FGF Receptor Activating Protein 1 2 3
  • FRAG1 3 4
  • Cell Wall Biogenesis 43 N-Terminal Homolog (S. Cerevisiae) 2
  • Cell Wall Biogenesis 43 N-Terminal Homolog 3
  • Post-GPI Attachment To Proteins Factor 2 3
  • FGF Receptor-Activating Protein 1 4
  • CWH43-N 3
  • HPMRS3 3
  • MRT21 3
  • MRT17 3

External Ids for PGAP2 Gene

Previous HGNC Symbols for PGAP2 Gene

  • MRT21

Previous GeneCards Identifiers for PGAP2 Gene

  • GC11P003787
  • GC11P003818
  • GC11P003552

Summaries for PGAP2 Gene

Entrez Gene Summary for PGAP2 Gene

  • The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Defects in this gene have been associated with hyperphosphatasia with mental retardation syndrome 3. [provided by RefSeq, Oct 2016]

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-Intellectual Disability Syndrome. GO annotations related to this gene include protein transporter activity.

UniProtKB/Swiss-Prot for PGAP2 Gene

  • Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAP2 Gene

Genomics for PGAP2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PGAP2 Gene

Enhancers for PGAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G003807 1.3 ENCODE dbSUPER 5.8 +11.0 11022 2.6 ATF1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A YY1 ETS1 ZNF143 DEK PGAP2 GC11P003814 NUP98
GH11G003801 0.8 Ensembl ENCODE 7.2 +4.6 4556 1.0 FOSL1 JUND POLR2A IKZF1 ZBTB33 PGAP2 NUP98 GC11P003814
GH11G003817 0.8 ENCODE 7 +19.7 19696 1.0 HDAC1 PTBP1 ETV6 IKZF2 SMARCA5 SMAD5 GATAD2B REST ELF1 POLR2H RHOG RNU7-50P PGAP2 GC11P003814 GC11P003826
GH11G003803 0.9 ENCODE 5.8 +6.4 6381 1.0 HDAC1 HNRNPUL1 ATF1 CBX3 PKNOX1 RB1 AGO1 ARID4B RAD21 ZNF766 PGAP2 NUP98 GC11P003814
GH11G003812 0.5 FANTOM5 2 +14.4 14444 0.1 TCF12 NCOR1 NR2F6 RBFOX2 RHOG RNU7-50P STIM1 ENSG00000206976 CHRNA10 NUP98 PGAP2 RRM1 GC11P003814
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PGAP2 on UCSC Golden Path with GeneCards custom track

Promoters for PGAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036113 -524 2401 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1

Genomic Location for PGAP2 Gene

Chromosome:
11
Start:
3,797,724 bp from pter
End:
3,826,371 bp from pter
Size:
28,648 bases
Orientation:
Plus strand

Genomic View for PGAP2 Gene

Genes around PGAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGAP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PGAP2 Gene

Proteins for PGAP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PGAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHJ9-PGAP2_HUMAN
    Recommended name:
    Post-GPI attachment to proteins factor 2
    Protein Accession:
    Q9UHJ9
    Secondary Accessions:
    • E9PJG5
    • H7BXL9
    • Q6UC77
    • Q96G66
    • Q9UF01
    • Q9Y4N1

    Protein attributes for PGAP2 Gene

    Size:
    254 amino acids
    Molecular mass:
    29400 Da
    Quaternary structure:
    • Interacts with PGAP2IP.

    Alternative splice isoforms for PGAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGAP2 Gene

Protein Expression for PGAP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PGAP2 Gene

No Post-translational modifications

Other Protein References for PGAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PGAP2 Gene

Domains & Families for PGAP2 Gene

Protein Domains for PGAP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PGAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHJ9

UniProtKB/Swiss-Prot:

PGAP2_HUMAN :
  • Belongs to the PGAP2 family.
Family:
  • Belongs to the PGAP2 family.
genes like me logo Genes that share domains with PGAP2: view

No data available for Gene Families for PGAP2 Gene

Function for PGAP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PGAP2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008565 protein transporter activity ISS --
genes like me logo Genes that share ontologies with PGAP2: view
genes like me logo Genes that share phenotypes with PGAP2: view

Human Phenotype Ontology for PGAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PGAP2 Gene

miRTarBase miRNAs that target PGAP2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PGAP2 Gene

Localization for PGAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGAP2 Gene

Golgi apparatus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGAP2 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 4
plasma membrane 3
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS --
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with PGAP2: view

Pathways & Interactions for PGAP2 Gene

SuperPathways for PGAP2 Gene

PathCards logo More details on SuperPathways for PGAP2
No Data Available

Gene Ontology (GO) - Biological Process for PGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process ISS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA --
GO:0015031 protein transport IEA --
GO:0042770 signal transduction in response to DNA damage IEA --
genes like me logo Genes that share ontologies with PGAP2: view

No data available for Pathways by source and SIGNOR curated interactions for PGAP2 Gene

Drugs & Compounds for PGAP2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PGAP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PGAP2 Gene

(51) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(181) Selected AceView cDNA sequences:
(37) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PGAP2 Gene

Post-GPI attachment to proteins 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGAP2 Gene

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: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - -
SP13: - - - -
SP14: - - -
SP15: - - - - - - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - -
SP18: - - - - - - - - - - - - -
SP19: - - - - - - - - - - - -
SP20: - - -
SP21: - - - - -
SP22: - - - - - - - - - - - -
SP23: - - - - - - - -
SP24:

ExUns: 11c ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g · 12h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

Relevant External Links for PGAP2 Gene

GeneLoc Exon Structure for
PGAP2
ECgene alternative splicing isoforms for
PGAP2

Expression for PGAP2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGAP2 Gene

mRNA expression in normal human tissues for PGAP2 Gene
mRNA expression by BioGPS for PGAP2 GenemRNA expression by GTEx for PGAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGAP2 Gene

This gene is overexpressed in Colon muscle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PGAP2 Gene



Protein tissue co-expression partners for PGAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGAP2 Gene:

PGAP2

SOURCE GeneReport for Unigene cluster for PGAP2 Gene:

Hs.133968

mRNA Expression by UniProt/SwissProt for PGAP2 Gene:

Q9UHJ9-PGAP2_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis and pancreas.

Evidence on tissue expression from TISSUES for PGAP2 Gene

  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PGAP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • anus
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with PGAP2: view

Primer Products

No data available for mRNA differential expression in normal tissues for PGAP2 Gene

Orthologs for PGAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PGAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PGAP2 34 35
  • 99.37 (n)
dog
(Canis familiaris)
 Mammalia PGAP2 34 35
  • 94.17 (n)
mouse
(Mus musculus)
 Mammalia Pgap2 35
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PGAP2 34 35
  • 88.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia PGAP2 35
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PGAP2 35
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100859632 34
  • 72.18 (n)
PGAP2 35
  • 61 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PGAP2 35
  • 53 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii pgap2 34 35
  • 57.52 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG3876 34 35
  • 56.29 (n)
CG7990 35
  • 26 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007869 34
  • 53.95 (n)
worm
(Caenorhabditis elegans)
 Secernentea tag-189 34 35
  • 45.66 (n)
Species where no ortholog for PGAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PGAP2 Gene

ENSEMBL:
Gene Tree for PGAP2 (if available)
TreeFam:
Gene Tree for PGAP2 (if available)

Paralogs for PGAP2 Gene

Pseudogenes.org Pseudogenes for PGAP2 Gene

genes like me logo Genes that share paralogs with PGAP2: view

No data available for Paralogs for PGAP2 Gene

Variants for PGAP2 Gene

Sequence variations from dbSNP and Humsavar for PGAP2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs773359554 Pathogenic, Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] 3,811,305(+) TGGTA(C/T)GGCTC intron-variant, nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs774843232 Pathogenic, Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] 3,825,024(+) GGATC(A/C/G/T)CAAGT nc-transcript-variant, reference, synonymous-codon, missense
rs780188037 Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] 3,824,330(+) CCTCA(C/T)CTGCA nc-transcript-variant, reference, synonymous-codon, missense
VAR_069665 Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
VAR_069666 Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]

Structural Variations from Database of Genomic Variants (DGV) for PGAP2 Gene

Variant ID Type Subtype PubMed ID
dgv190n67 CNV loss 20364138
esv3353687 CNV insertion 20981092

Variation tolerance for PGAP2 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGAP2 Gene

Human Gene Mutation Database (HGMD)
PGAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAP2 Gene

Disorders for PGAP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PGAP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PGAP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGAP2_HUMAN
  • 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. {ECO:0000269 PubMed:23561846, ECO:0000269 PubMed:23561847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PGAP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGAP2
genes like me logo Genes that share disorders with PGAP2: view

No data available for Genatlas for PGAP2 Gene

Publications for PGAP2 Gene

  1. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. (PMID: 23561846) Hansen L. … Abou Jamra R. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer. (PMID: 10585768) Lorenzi M.V. … Miki T. (Genomics 1999) 2 3 4 64
  3. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (PMID: 23561847) Krawitz P.M. … Horn D. (Am. J. Hum. Genet. 2013) 3 4 64
  4. PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. (PMID: 16407401) Tashima Y. … Maeda Y. (Mol. Biol. Cell 2006) 2 3 64
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3 64

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