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Aliases for PGAP2 Gene

Aliases for PGAP2 Gene

  • Post-GPI Attachment To Proteins 2 2 3
  • FRAG1 3 4 6
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 21 2 3
  • FGF Receptor Activating Protein 1 2 3
  • FGF Receptor-Activating Protein 1 3 4
  • HPMRS3 3 6
  • MRT17 3 6
  • MRT21 3 6
  • 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
  • CWH43-N 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

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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAP2 Gene

Genomics for PGAP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PGAP2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAP2 Gene

No data available for Regulatory Elements for PGAP2 Gene

Proteins for PGAP2 Gene

  • 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

Proteomics data for PGAP2 Gene at MOPED

Post-translational modifications for PGAP2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PGAP2 Gene

Domains for PGAP2 Gene

Protein Domains for PGAP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PGAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHJ9

UniProtKB/Swiss-Prot:

PGAP2_HUMAN :
  • Q9UHJ9
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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PGAP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PGAP2 Gene COMPARTMENTS Subcellular localization image for PGAP2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
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:0005789 endoplasmic reticulum membrane ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PGAP2: view

Pathways for PGAP2 Gene

SuperPathways for PGAP2 Gene

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 --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage --
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 for PGAP2 Gene

Transcripts for PGAP2 Gene

Unigene Clusters for PGAP2 Gene

Post-GPI attachment to proteins 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PGAP2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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

mRNA expression in normal human tissues for PGAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for PGAP2 Gene

This gene is overexpressed in Colon muscle (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PGAP2 Gene

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.
genes like me logo Genes that share expressions with PGAP2: view

Expression partners for PGAP2 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PGAP2 35
  • 88.58 (n)
  • 88.31 (a)
PGAP2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGAP2 35
  • 94.17 (n)
  • 96.37 (a)
PGAP2 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PGAP2 35
  • 99.37 (n)
  • 99.19 (a)
PGAP2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgap2 16
Pgap2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PGAP2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGAP2 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859632 35
  • 72.18 (n)
  • 70.16 (a)
PGAP2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGAP2 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pgap2 35
  • 57.52 (n)
  • 46.08 (a)
pgap2 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007869 35
  • 53.95 (n)
  • 40.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3876 35
  • 56.29 (n)
  • 48.25 (a)
CG3876 36
  • 44 (a)
OneToMany
CG7990 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-189 35
  • 45.66 (n)
  • 39.08 (a)
tag-189 36
  • 36 (a)
OneToOne
Species with no ortholog for PGAP2:
  • 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 MAF
rs15792 -- 3,826,001(-) TCAGA(G/T)GGGGA utr-variant-3-prime, nc-transcript-variant
rs15820 -- 3,826,200(-) AAGGA(A/G)GGGAG utr-variant-3-prime, nc-transcript-variant
rs1037382 -- 3,802,168(+) AGATG(A/T)GCAGG intron-variant
rs1037383 -- 3,802,289(+) CTTTG(A/G)TAGGC intron-variant
rs1037384 -- 3,802,299(+) CAAGT(A/G)GCCCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv190n67 CNV Loss 20364138

Relevant External Links for PGAP2 Gene

HapMap Linkage Disequilibrium report
PGAP2
Human Gene Mutation Database (HGMD)
PGAP2

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

Disorders for PGAP2 Gene

(1) OMIM Diseases for PGAP2 Gene (615187)

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.
genes like me logo Genes that share disorders with PGAP2: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for PGAP2 Gene

Publications for PGAP2 Gene

  1. 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
  2. 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
  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
  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
  5. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PMID: 19460752) Yeung M.L. … Jeang K.T. (J. Biol. Chem. 2009) 3

Products for PGAP2 Gene

Sources for PGAP2 Gene

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