Aliases for PIGP Gene
Aliases for PIGP Gene
- Phosphatidylinositol Glycan Anchor Biosynthesis Class P 2 3 5
- Phosphatidylinositol-N-Acetylglucosaminyltranferase Subunit 2 3
- Phosphatidylinositol-Glycan Biosynthesis Class P Protein 3 4
- Down Syndrome Critical Region Protein 5 3 4
- Down Syndrome Critical Region Protein C 3 4
- Down Syndrome Critical Region Gene 5 2 3
- Phosphatidylinositol Glycan, Class P 2 3
- DSCR5 3 4
- PIG-P 3 4
External Ids for PIGP Gene
- HGNC: 3046
- Entrez Gene: 51227
- Ensembl: ENSG00000185808
- OMIM: 605938
- UniProtKB: P57054
Previous HGNC Symbols for PIGP Gene
- DSCR5
Previous GeneCards Identifiers for PIGP Gene
- GC21M037360
- GC21M038435
- GC21M023913
Summaries for PIGP Gene
-
This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
GeneCards Summary for PIGP Gene
PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P) is a Protein Coding gene. Diseases associated with PIGP include Epileptic Encephalopathy, Early Infantile, 55 and Epileptic Encephalopathy, Early Infantile, 15. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.
UniProtKB/Swiss-Prot for PIGP Gene
-
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
Additional gene information for PIGP Gene
- Monarch Initiative
- Search for PIGP at DataMed
- Search for PIGP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGP Gene
Genomics for PIGP Gene
GeneHancer (GH) Regulatory Elements for PIGP Gene
Promoters and enhancers for PIGP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIGP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PIGP gene promoter:
-
- AREB6
- Pbx1a
- C/EBPalpha
- CHOP-10
- Nkx3-1
- FOXJ2 (long isoform)
Regulatory Element Products
Genomic Locations for PIGP Gene
Genomic Locations for PIGP Gene
- chr21:37,059,170-37,073,170
- (GRCh38/hg38)
- Size:
- 14,001 bases
- Orientation:
- Minus strand
- chr21:38,431,470-38,445,470
- (GRCh37/hg19)
- Size:
- 14,001 bases
- Orientation:
- Minus strand
Genomic View for PIGP Gene
Genes around PIGP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.13 by Entrez Gene
- 21q22.13 by HGNC
- 21q22.13 by Ensembl
PIGP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PIGP Gene
Proteins for PIGP Gene
-
Protein details for PIGP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P57054-PIGP_HUMAN
- Recommended name:
- Phosphatidylinositol N-acetylglucosaminyltransferase subunit P
- Protein Accession:
- P57054
- A0A0C4DH71
- B2RB18
- B2RE99
- B5BU92
- D3DSG7
- J3KR75
- Q53Y28
- Q96KI1
- Q9NZA6
Protein attributes for PIGP Gene
- Size:
- 158 amino acids
- Molecular mass:
- 18089 Da
- Quaternary structure:
-
- Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.
Post-translational modifications for PIGP Gene
Other Protein References for PIGP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PIGP
- Novus Biologicals Antibodies for PIGP
- Invitrogen Antibodies for PIGP (AFLGC-PIGP)
- Search GeneTex for Antibodies for PIGP
-
Boster Bio Antibodies for PIGP
Protein Products
-
OriGene Purified Proteins for PIGP
- Search Origene for MassSpec and Protein Over-expression Lysates for PIGP
- Origene Custom Protein Services for PIGP
- Search GeneTex for Proteins for PIGP
-
Abcam proteins for PIGP
Assay Products
- antibodies-online: Search results for available PIGP related products ranked by validation data
No data available for DME Specific Peptides for PIGP Gene
Domains & Families for PIGP Gene
Gene Families for PIGP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PIGP Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PIGP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P57054- Family:
-
- Belongs to the PIGP family.
Function for PIGP Gene
Molecular function for PIGP Gene
- UniProtKB/Swiss-Prot Function:
- Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
- UniProtKB/Swiss-Prot CatalyticActivity:
- UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.
Enzyme Numbers (IUBMB) for PIGP Gene
Phenotypes From GWAS Catalog for PIGP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0017176 | contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity | IDA | 10944123 |
Phenotypes for PIGP Gene
- GenomeRNAi human phenotypes for PIGP:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PIGP
-
CRISPR Products
-
OriGene CRISPR knockouts for PIGP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGP
- genomics-online: gRNA clones - Search results for available PIGP gene related products
- Applied Biological Materials CRISPR for PIGP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGP
- GenScript: Design CRISPR guide RNA sequences for PIGP
miRNA for PIGP Gene
- miRTarBase miRNAs that target PIGP
-
- hsa-mir-320a (MIRT044441)
- hsa-let-7e-5p (MIRT051515)
- hsa-mir-6864-5p (MIRT456812)
- hsa-mir-6780b-5p (MIRT456813)
- hsa-mir-4725-3p (MIRT456814)
- hsa-mir-4271 (MIRT456815)
- hsa-mir-6828-5p (MIRT456816)
- hsa-mir-298 (MIRT456817)
- hsa-mir-4708-3p (MIRT456818)
- hsa-mir-3179 (MIRT456819)
- hsa-mir-6783-5p (MIRT456820)
- hsa-mir-7515 (MIRT456821)
- hsa-mir-5010-3p (MIRT516650)
- hsa-mir-2113 (MIRT516651)
- hsa-mir-411-5p (MIRT516652)
- hsa-mir-6832-5p (MIRT516653)
- hsa-mir-4775 (MIRT516654)
- hsa-mir-4735-5p (MIRT516655)
- hsa-mir-4524a-3p (MIRT516656)
- hsa-mir-4524b-3p (MIRT516657)
- hsa-mir-590-3p (MIRT516658)
- hsa-mir-7855-5p (MIRT569445)
- hsa-mir-6858-5p (MIRT569446)
- hsa-mir-4439 (MIRT569447)
- hsa-mir-4689 (MIRT569448)
- hsa-mir-3136-5p (MIRT569449)
- hsa-mir-3118 (MIRT569450)
- hsa-mir-134-5p (MIRT569451)
- hsa-mir-876-3p (MIRT569452)
- hsa-mir-323a-5p (MIRT569453)
- hsa-mir-4710 (MIRT569454)
- hsa-mir-4792 (MIRT569455)
- hsa-mir-4765 (MIRT569456)
- hsa-mir-1236-5p (MIRT569457)
- hsa-mir-4784 (MIRT569458)
- hsa-mir-3150b-3p (MIRT569459)
- hsa-mir-6857-3p (MIRT569460)
- hsa-mir-4513 (MIRT569461)
- hsa-mir-6855-3p (MIRT569462)
- hsa-mir-4790-3p (MIRT569463)
- hsa-mir-4539 (MIRT569464)
- hsa-mir-3174 (MIRT569465)
- hsa-mir-4433b-3p (MIRT569466)
- hsa-mir-4724-5p (MIRT569467)
- hsa-mir-4446-5p (MIRT637345)
- hsa-mir-6826-3p (MIRT637346)
- hsa-mir-6756-3p (MIRT637347)
- hsa-mir-6832-3p (MIRT637348)
- hsa-mir-3127-3p (MIRT637349)
- hsa-mir-1208 (MIRT637350)
- hsa-mir-892c-3p (MIRT637351)
- hsa-mir-4676-3p (MIRT637352)
- hsa-mir-452-5p (MIRT637353)
- hsa-mir-378a-5p (MIRT646358)
- hsa-mir-6821-3p (MIRT646359)
- hsa-mir-6882-3p (MIRT646360)
- hsa-mir-6790-3p (MIRT646361)
- hsa-mir-3653-5p (MIRT646362)
- hsa-mir-4267 (MIRT646363)
- hsa-mir-125a-3p (MIRT646364)
- hsa-mir-5586-5p (MIRT646365)
- hsa-mir-22-3p (MIRT646366)
- hsa-mir-6514-3p (MIRT693372)
- hsa-mir-6811-3p (MIRT693373)
- hsa-mir-214-5p (MIRT693374)
- hsa-mir-103b (MIRT693375)
- hsa-mir-890 (MIRT693376)
- hsa-mir-1292-3p (MIRT737125)
- hsa-mir-6807-5p (MIRT756534)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGP
- Browse OriGene Inhibitory RNA Products For PIGP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP
- genomics-online: shRNA clones - Search results for available PIGP gene related products
Clone Products
- Sino Biological Human cDNA Clone for PIGP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGP
- genomics-online: cdna clones - Search results for available PIGP gene related products
- orf clones - Search results for available PIGP gene related products
- Applied Biological Materials Clones for PIGP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIGP
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGP Gene
Localization for PIGP Gene
Subcellular locations from UniProtKB/Swiss-Prot for PIGP Gene
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| extracellular | 1 |
| golgi apparatus | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | IDA | 10944123 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for PIGP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Post-translational modification- synthesis of GPI-anchored proteins | ||
Pathways by source for PIGP Gene
2 KEGG pathways for PIGP Gene
UniProtKB/Swiss-Prot P57054-PIGP_HUMAN
- Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Interacting Proteins for PIGP Gene
GPS-Prot Interaction Network for PIGP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006506 | GPI anchor biosynthetic process | IMP | 28334793 |
| GO:0016254 | preassembly of GPI anchor in ER membrane | TAS | -- |
No data available for SIGNOR curated interactions for PIGP Gene
Drugs & Compounds for PIGP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Sphingosine | Experimental | Pharma | 0 | |||
| Uridine 5'-diphosphate | Experimental | Pharma | 0 | |||
| sphinganine | Pharma | 0 | ||||
| Sphingosine-1-phosphate | Pharma | Full agonist, Agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
Drug Products
Transcripts for PIGP Gene
mRNA/cDNA for PIGP Gene
- (5) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (150) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000360525 6998 bps (uc002yvx.2)
- ENST00000464265 3437 bps (uc002yvw.2)
- ENST00000329667 562 bps (uc061zzi.1)
- ENST00000399102 688 bps (uc061zzj.1)
- ENST00000399103 656 bps (uc061zzk.1)
Unigene Clusters for PIGP Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIGP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGP
- genomics-online: gRNA clones - Search results for available PIGP gene related products
- Applied Biological Materials CRISPR for PIGP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGP
- GenScript: Design CRISPR guide RNA sequences for PIGP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGP
- Browse OriGene Inhibitory RNA Products For PIGP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP
- genomics-online: shRNA clones - Search results for available PIGP gene related products
Clone Products
- Sino Biological Human cDNA Clone for PIGP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGP
- genomics-online: cdna clones - Search results for available PIGP gene related products
- orf clones - Search results for available PIGP gene related products
- Applied Biological Materials Clones for PIGP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||
| SP6: | - |
Expression for PIGP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
NURSA nuclear receptor signaling pathways regulating expression of PIGP Gene:
PIGPSOURCE GeneReport for Unigene cluster for PIGP Gene:
Hs.656565mRNA Expression by UniProt/SwissProt for PIGP Gene:
P57054-PIGP_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for PIGP Gene
- Nervous system(4.5)
- Kidney(4.2)
- Blood(4)
Primer Products
-
OriGene qPCR primer pairs for PIGP
-
OriGene qPCR primer pairs and template standards for PIGP
- genomics-online: primer clones - Search results for available PIGP gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGP Gene
Orthologs for PIGP Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIGP 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| PIGP 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | PIGP 34 33 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Pigp 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pigp 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PIGP 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PIGP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PIGP 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PIGP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pigp 33 |
|
||
| Str.10811 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33103 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pigp 34 33 |
|
OneToOne |
- Species where no ortholog for PIGP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
- 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for PIGP Gene
- ENSEMBL:
- Gene Tree for PIGP (if available)
- TreeFam:
- Gene Tree for PIGP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIGP: view image
Paralogs for PIGP Gene
Pseudogenes.org Pseudogenes for PIGP Gene
No data available for Paralogs for PIGP Gene
Variants for PIGP Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs768633670 | uncertain-significance, pathogenic, Early infantile epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | 37,072,514(-) | A/G | 5_prime_UTR_variant, coding_sequence_variant, initiator_codon_variant, missense_variant | |
| rs778481061 | uncertain-significance, pathogenic, Early infantile epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | 37,065,603(-) | TTT/TT | coding_sequence_variant, frameshift | |
| VAR_079291 | Epileptic encephalopathy, early infantile, 55 (EIEE55) [MIM:617599] | p.Met25Thr | |||
| rs1000277254 | -- | 37,069,893(-) | T/C | intron_variant | |
| rs1000389746 | -- | 37,073,965(-) | G/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3575389 | CNV | gain | 25503493 |
| nsv1066107 | CNV | loss | 25217958 |
| nsv3510 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.07;
75.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PIGP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGP Gene
Disorders for PIGP Gene
(3) MalaCards diseases for PIGP Gene - From: HGMD, OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 55 |
|
|
| epileptic encephalopathy, early infantile, 15 |
|
|
| down syndrome |
|
|
Search PIGP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PIGP_HUMAN- Epileptic encephalopathy, early infantile, 55 (EIEE55) [MIM:617599]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE55 is an autosomal recessive condition. {ECO:0000269 PubMed:28334793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PIGP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PIGP Gene
Publications for PIGP Gene
- Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5). (PMID: 15221505) Ferrando-Miguel R … Lubec G (Amino acids 2004) 2 3 22 58
- Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K … Shimizu N (Biochemical and biophysical research communications 2000) 2 3 4 58
- Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. (PMID: 28334793) Johnstone DL … Campeau PM (Human molecular genetics 2017) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
Products for PIGP Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for PIGP
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for PIGP
- Search Origene for MassSpec and Protein Over-expression Lysates for PIGP
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGP
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- GenScript: Next-day shipping of latest version cDNA ORF clones for PIGP in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PIGP
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- GenScript: Design CRISPR guide RNA sequences for PIGP
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- CloneReady with Over 120,000 Genes
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- Sino Biological Human cDNA Clone for PIGP
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- Novus Biologicals Antibodies for PIGP
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- antibodies-online: Search results for 23 available PIGP Antibodies ranked by validation data
- Compare Top PIGP Antibodies
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- antibodies-online: Search results for available PIGP related products ranked by validation data
- antibodies-online: Search results for 4 available PIGP Proteins ranked by validation data
- Compare Top PIGP Proteins
- Search GeneTex for Antibodies for PIGP
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- Horizon Cell Lines for PIGP
- genomics-online: cdna clones - Search results for available PIGP gene related products
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- genomics-online: gRNA clones - Search results for available PIGP gene related products
- genomics-online: primer clones - Search results for available PIGP gene related products
- genomics-online: shRNA clones - Search results for available PIGP gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGP
- GeneCopoeia miRNA 3'UTR Target clone products for PIGP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP
- Boster Bio Antibodies for PIGP
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Sources for PIGP 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
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- (21) IntAct
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- (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
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (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
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt