Aliases for PGAP2 Gene
Aliases for PGAP2 Gene
External Ids for PGAP2 Gene
- HGNC: 17893
- Entrez Gene: 27315
- Ensembl: ENSG00000148985
- OMIM: 615187
- UniProtKB: Q9UHJ9
Previous HGNC Symbols for PGAP2 Gene
- MRT21
Previous GeneCards Identifiers for PGAP2 Gene
- GC11P003787
- GC11P003818
- GC11P003552
Summaries for PGAP2 Gene
-
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]
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. Gene Ontology (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).
Additional gene information for PGAP2 Gene
- Monarch Initiative
- Search for PGAP2 at DataMed
- Search for PGAP2 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for PGAP2 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11I003795 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 550.8 | -0.5 | -513 | 3.9 | HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 | NUP98 PGAP2 CARS-AS1 GC11P003794 GC11M003657 GC11M003656 | |
GH11I003807 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 555.8 | +11.0 | 11022 | 2.6 | ATF1 ARNT ARID4B SIN3A YY1 ETS1 E2F8 ARID2 ZNF143 DEK | PGAP2 GC11P003814 NUP98 GC11M003656 GC11M003657 | |
GH11I003801 | Enhancer | 0.6 | Ensembl ENCODE | 7.2 | +4.6 | 4555 | 1 | IKZF1 ZBTB33 | PGAP2 NUP98 GC11P003814 GC11M003657 GC11M003656 | |
GH11I003817 | Enhancer | 0.6 | ENCODE | 7 | +19.7 | 19696 | 1 | SMARCA5 BCOR RNF2 CBFA2T3 ZMYM3 ZNF148 SP1 HDAC2 ADNP KDM1A | RHOG RNU7-50P PGAP2 GC11P003814 GC11P003826 GC11M003656 GC11M003657 | |
GH11I003803 | Enhancer | 0.2 | ENCODE | 5.8 | +6.4 | 6380 | 1 | PGAP2 NUP98 GC11P003814 GC11M003656 GC11M003657 |
Regulatory Element Products
Genomic Locations for PGAP2 Gene
- chr11:3,797,724-3,826,371
- (GRCh38/hg38)
- Size:
- 28,648 bases
- Orientation:
- Plus strand
- chr11:3,818,954-3,847,601
- (GRCh37/hg19)
Genomic View for PGAP2 Gene
- Cytogenetic band:
-
- 11p15.4 by Ensembl
- 11p15.4 by Entrez Gene
- 11p15.4 by HGNC


RefSeq DNA sequence 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
- E9PJG5
- H7BXL9
- Q6UC77
- Q96G66
- Q9UF01
- Q9Y4N1
Protein attributes for PGAP2 Gene
- Size:
- 254 amino acids
- Molecular mass:
- 29400 Da
- Quaternary structure:
-
- Interacts with PGAP2IP.
Protein Expression for PGAP2 Gene
Post-translational modifications for PGAP2 Gene
Other Protein References for PGAP2 Gene
- ENSEMBL proteins:
-
- ENSP00000300730
- ENSP00000380183
- ENSP00000380188
- ENSP00000380190
- ENSP00000431851
- ENSP00000432123
- ENSP00000432215
- ENSP00000432721
- ENSP00000433377
- ENSP00000433748
- ENSP00000434088
- ENSP00000434401
- ENSP00000434419
- ENSP00000434507
- ENSP00000434631
- ENSP00000434772
- ENSP00000435223
- ENSP00000435338
- ENSP00000435703
- ENSP00000435799
- ENSP00000437203
- ENSP00000481391
- ENSP00000482118
- ENSP00000278243
- REFSEQ proteins:
-
- 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_001333326.1
- NP_001333327.1
- NP_001333328.1
- NP_001333329.1
- NP_001333330.1
- NP_001333331.1
- NP_001333332.1
- NP_001333333.1
- NP_001333334.1
- NP_055304.1
- XP_006718244.1
- XP_006718246.1
- XP_006718248.1
- XP_006718249.1
- XP_006718253.1
- XP_006718254.1
- XP_006718255.1
- XP_006718256.1
- XP_011518292.2
- XP_011518293.2
- XP_011518294.1
- XP_011518295.2
- XP_011518296.2
- XP_011518297.1
- XP_011518298.1
- XP_011518299.1
- XP_011518300.1
- XP_011518301.1
- XP_011518302.1
- XP_011518303.1
- XP_011518304.1
- XP_011518305.1
- XP_011518306.1
- XP_011518307.1
- XP_011518308.1
- XP_011518309.1
- XP_016873045.1
- XP_016873046.1
- XP_016873047.1
- XP_016873048.1
- XP_016873049.1
Antibody Products
- Novus Biologicals Antibodies for PGAP2
- Invitrogen Antibodies for PGAP2
- Search GeneTex for Antibodies for PGAP2
Protein Products
-
OriGene Purified Proteins for PGAP2
- Search Origene for MassSpec and Protein Over-expression Lysates for PGAP2
- Origene Custom Protein Services for PGAP2
- Search GeneTex for Proteins for PGAP2
Assay Products
No data available for DME Specific Peptides for PGAP2 Gene
Domains & Families for PGAP2 Gene
Gene Families for PGAP2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
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- Family:
-
- Belongs to the PGAP2 family.
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).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008565 | protein transporter activity | ISS | -- |
Phenotypes for PGAP2 Gene
- GenomeRNAi human phenotypes for PGAP2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PGAP2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PGAP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PGAP2 gene
- Search ViGene Biosciences for PGAP2
CRISPR Products
-
OriGene CRISPR knockouts for PGAP2
- genomics-online: gRNA clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PGAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGAP2
- GenScript: Design CRISPR guide RNA sequences for PGAP2
miRNA for PGAP2 Gene
- miRTarBase miRNAs that target PGAP2
miRNA Products
- Search ViGene Biosciences for PGAP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PGAP2
- Browse OriGene Inhibitory RNA Products For PGAP2
- genomics-online: shRNA clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for PGAP2 gene
Clone Products
-
OriGene ORF clones in human for PGAP2
- RG213084
- RC213084L2
- RC213084L1
- RC213084
- RC235802
- RC236921
- RC237372
- RG233561
- RC233561
- RG233550
- RC233550
- RG233501
- RC233501
- RG233668
- RC233668
- RG233905
- RC233905
- RG233610
- RC233610
- RG226646
- RC226646L2
- RC226646L1
- RC226646
- RG226618
- RC226618L2
- RC226618L1
- RC226618
- RC213084L2V
- RC213084L1V
- RC226646L2V
- RC226646L1V
- RC226618L2V
- RC226618L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PGAP2 in any vector
- NM_001145438.2
- XM_011519997.1
- XM_011520006.1
- XM_011519994.1
- XM_006718190.2
- XM_011519991.1
- XM_006718185.2
- NM_001283038.1
- XM_011520008.1
- XM_011520000.1
- NM_001256238.1
- XM_006718181.2
- NM_001283040.1
- XM_006718183.2
- XM_011519990.1
- XM_011520005.1
- XM_011519993.1
- XM_006718192.1
- XM_011519996.1
- XM_006718193.2
- XM_011519999.1
- NM_001256237.1
- XM_011520002.1
- NM_001256240.1
- XM_011520004.1
- NM_001256235.1
- NM_001283039.1
- XM_006718186.1
- XM_011519992.1
- XM_006718191.2
- XM_011519995.1
- XM_011520007.1
- XM_011519998.1
- NM_014489.3
- NM_001256236.1
- XM_011520001.1
- NM_001256239.1
- XM_011520003.1
- Sino Biological Human cDNA Clone for PGAP2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PGAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- orf clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- Applied Biological Materials Clones for PGAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PGAP2
-
ViGene Biosciences adenoviral particle packaged cDNA for PGAP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PGAP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PGAP2 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.
- Microtubules (2)
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 | -- |
Pathways & Interactions for PGAP2 Gene
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for PGAP2 Gene
Transcripts for PGAP2 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for PGAP2
- genomics-online: gRNA clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for PGAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGAP2
- GenScript: Design CRISPR guide RNA sequences for PGAP2
miRNA Products
- Search ViGene Biosciences for PGAP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PGAP2
- Browse OriGene Inhibitory RNA Products For PGAP2
- genomics-online: shRNA clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for PGAP2 gene
Clone Products
-
OriGene ORF clones in human for PGAP2
- RG213084
- RC213084L2
- RC213084L1
- RC213084
- RC235802
- RC236921
- RC237372
- RG233561
- RC233561
- RG233550
- RC233550
- RG233501
- RC233501
- RG233668
- RC233668
- RG233905
- RC233905
- RG233610
- RC233610
- RG226646
- RC226646L2
- RC226646L1
- RC226646
- RG226618
- RC226618L2
- RC226618L1
- RC226618
- RC213084L2V
- RC213084L1V
- RC226646L2V
- RC226646L1V
- RC226618L2V
- RC226618L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PGAP2 in any vector
- NM_001145438.2
- XM_011519997.1
- XM_011520006.1
- XM_011519994.1
- XM_006718190.2
- XM_011519991.1
- XM_006718185.2
- NM_001283038.1
- XM_011520008.1
- XM_011520000.1
- NM_001256238.1
- XM_006718181.2
- NM_001283040.1
- XM_006718183.2
- XM_011519990.1
- XM_011520005.1
- XM_011519993.1
- XM_006718192.1
- XM_011519996.1
- XM_006718193.2
- XM_011519999.1
- NM_001256237.1
- XM_011520002.1
- NM_001256240.1
- XM_011520004.1
- NM_001256235.1
- NM_001283039.1
- XM_006718186.1
- XM_011519992.1
- XM_006718191.2
- XM_011519995.1
- XM_011520007.1
- XM_011519998.1
- NM_014489.3
- NM_001256236.1
- XM_011520001.1
- NM_001256239.1
- XM_011520003.1
- Sino Biological Human cDNA Clone for PGAP2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PGAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- orf clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
- Applied Biological Materials Clones for PGAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for PGAP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Mature Granulosa Cells Antral Follicle
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PGAP2 Gene
NURSA nuclear receptor signaling pathways regulating expression of PGAP2 Gene:
PGAP2SOURCE GeneReport for Unigene cluster for PGAP2 Gene:
Hs.133968mRNA Expression by UniProt/SwissProt for PGAP2 Gene:
Q9UHJ9-PGAP2_HUMANEvidence on tissue expression from TISSUES for PGAP2 Gene
- Kidney(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PGAP2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cheek
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
- tooth
- heart
- biliary tract
- intestine
- kidney
- large intestine
- liver
- anus
- rectum
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for PGAP2
- genomics-online: primer clones - Search results for 120 available Pgap2 gene related products
- Overview of 120 available Pgap2 gene related products
-
Recommended
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PGAP2 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | PGAP2 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Pgap2 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | PGAP2 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PGAP2 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | PGAP2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | LOC100859632 33 |
|
||
PGAP2 34 |
|
OneToOne | |||
lizard (Anolis carolinensis) |
Reptilia | PGAP2 34 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | pgap2 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG3876 34 33 |
|
OneToMany | |
CG7990 34 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007869 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | tag-189 34 33 |
|
OneToOne |
- 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)
Paralogs for PGAP2 Gene
Pseudogenes.org Pseudogenes for PGAP2 Gene
No data available for Paralogs for PGAP2 Gene
Variants for PGAP2 Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs587776970 | pathogenic, Hyperphosphatasia with mental retardation syndrome 3 | 3,824,025(+) | C/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs773359554 | pathogenic, Hyperphosphatasia with mental retardation syndrome 3, Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] | 3,811,305(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs774843232 | pathogenic, Hyperphosphatasia with mental retardation syndrome 3, Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] | 3,825,024(+) | G/A/C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs780188037 | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] | 3,824,330(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs879255232 | pathogenic, Hyperphosphatasia with mental retardation syndrome 3, Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207] | 3,824,013(+) | A/G | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv190n67 | CNV | loss | 20364138 |
esv3353687 | CNV | insertion | 20981092 |
Additional Variant Information for PGAP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAP2 Gene
Disorders for PGAP2 Gene

(3) MalaCards diseases for PGAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphosphatasia with mental retardation syndrome 3 |
|
|
hyperphosphatasia-intellectual disability syndrome |
|
|
autosomal recessive non-syndromic intellectual disability |
|
|
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.
Additional Disease Information for PGAP2
No data available for Genatlas for PGAP2 Gene
Publications for PGAP2 Gene
- Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. (PMID: 23561846) Hansen L … Abou Jamra R (American journal of human genetics 2013) 2 3 4 58
- 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 MV … Miki T (Genomics 1999) 2 3 4 58
- PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (PMID: 23561847) Krawitz PM … Horn D (American journal of human genetics 2013) 3 4 58
- PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins. (PMID: 16407401) Tashima Y … Maeda Y (Molecular biology of the cell 2006) 2 3 58
- Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58
Products for PGAP2 Gene
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for available Pgap2 related products ranked by validation data
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Sources for PGAP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
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- (128) ViGene Biosciences
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew