Aliases for PIGT Gene
Aliases for PIGT Gene
External Ids for PIGT Gene
- HGNC: 14938
- Entrez Gene: 51604
- Ensembl: ENSG00000124155
- OMIM: 610272
- UniProtKB: Q969N2
Previous GeneCards Identifiers for PIGT Gene
- GC20P043773
- GC20P044683
- GC20P044730
- GC20P043478
- GC20P044044
- GC20P040786
Summaries for PIGT Gene
-
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for PIGT Gene
PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T) is a Protein Coding gene. Diseases associated with PIGT include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 and Paroxysmal Nocturnal Hemoglobinuria 2. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include GPI-anchor transamidase activity.
UniProtKB/Swiss-Prot for PIGT Gene
-
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Additional gene information for PIGT Gene
- Monarch Initiative
- Search for PIGT at DataMed
- Search for PIGT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGT Gene
Genomics for PIGT Gene
GeneHancer (GH) Regulatory Elements for PIGT Gene
Regulatory Element Products
Genomic Locations for PIGT Gene
- chr20:45,416,067-45,456,934
- (GRCh38/hg38)
- Size:
- 40,868 bases
- Orientation:
- Plus strand
- chr20:44,044,707-44,054,884
- (GRCh37/hg19)
Genomic View for PIGT Gene
- Cytogenetic band:
-
- 20q13.12 by Ensembl
- 20q13.12 by Entrez Gene
- 20q13.12 by HGNC


RefSeq DNA sequence for PIGT Gene
Proteins for PIGT Gene
-
Protein details for PIGT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q969N2-PIGT_HUMAN
- Recommended name:
- GPI transamidase component PIG-T
- Protein Accession:
- Q969N2
- B2RND5
- B7Z3N1
- B7Z7I8
- E1P622
- G8JLF5
- Q2NL69
- Q7Z3N7
- Q9BQY7
- Q9BQY8
- Q9UJG6
- Q9Y2Z5
Protein attributes for PIGT Gene
- Size:
- 578 amino acids
- Molecular mass:
- 65700 Da
- Quaternary structure:
-
- Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS.
- SequenceCaution:
-
- Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Evidence={ECO:0000305}; Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB57341.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for PIGT Gene
Post-translational modifications for PIGT Gene
- The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
- Ubiquitination at Lys337, isoforms=2, 4, 5339, and Lys365
- Glycosylation at Asn164, isoforms=2, 3, 4, 5, 6291, and Asn327
Other Protein References for PIGT Gene
- ENSEMBL proteins:
-
- ENSP00000279035
- ENSP00000361774
- ENSP00000407574
- ENSP00000408354
- ENSP00000441577
- ENSP00000443963
- ENSP00000491058
- ENSP00000491072
- ENSP00000491074
- ENSP00000491118
- ENSP00000491164
- ENSP00000491170
- ENSP00000491171
- ENSP00000491194
- ENSP00000491233
- ENSP00000491297
- ENSP00000491308
- ENSP00000491406
- ENSP00000491458
- ENSP00000491534
- ENSP00000491538
- ENSP00000491553
- ENSP00000491566
- ENSP00000491588
- ENSP00000491600
- ENSP00000491678
- ENSP00000491697
- ENSP00000491744
- ENSP00000491772
- ENSP00000491856
- ENSP00000491886
- ENSP00000491913
- ENSP00000492007
- ENSP00000492043
- ENSP00000492094
- ENSP00000492174
- ENSP00000492210
- ENSP00000492270
- ENSP00000492279
- ENSP00000492295
- ENSP00000492335
- ENSP00000492370
- ENSP00000492417
- ENSP00000492418
- ENSP00000492464
- ENSP00000492498
- ENSP00000492507
- ENSP00000492727
- ENSP00000492743
- ENSP00000492843
- ENSP00000492848
- ENSP00000492873
- ENSP00000492875
- ENSP00000492883
- ENSP00000279036
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PIGT
- Novus Biologicals Antibodies for PIGT
- Invitrogen Antibodies for PIGT
- GeneTex PIGT antibody for PIGT
Protein Products
-
OriGene Purified Proteins for PIGT
- Search Origene for MassSpec and Protein Over-expression Lysates for PIGT
- Origene Custom Protein Services for PIGT
- Search GeneTex for Proteins for PIGT
-
Abcam proteins for PIGT
Assay Products
No data available for DME Specific Peptides for PIGT Gene
Domains & Families for PIGT Gene
Gene Families for PIGT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Suggested Antigen Peptide Sequences for PIGT Gene
Graphical View of Domain Structure for InterPro Entry
Q969N2- Family:
-
- Belongs to the PIGT family.
Function for PIGT Gene
Molecular function for PIGT Gene
- UniProtKB/Swiss-Prot Function:
- Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Phenotypes From GWAS Catalog for PIGT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003923 | contributes_to GPI-anchor transamidase activity | TAS | 11483512 |
GO:0005515 | protein binding | IPI | 11483512 |
Phenotypes for PIGT Gene
- MGI mutant phenotypes for PIGT:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PIGT:
Animal Models for PIGT Gene
- MGI Knock Outs for PIGT:
-
- Pigt tm1Lex
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PIGT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PIGT gene
- Search ViGene Biosciences for PIGT
CRISPR Products
-
OriGene CRISPR knockouts for PIGT
- genomics-online: gRNA clones - Search results for 128 available PIGT gene related products
- Overview of 128 available PIGT gene related products
- Applied Biological Materials CRISPR for PIGT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGT
- GenScript: Design CRISPR guide RNA sequences for PIGT
miRNA for PIGT Gene
- miRTarBase miRNAs that target PIGT
miRNA Products
- Search ViGene Biosciences for PIGT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for PIGT
- Browse OriGene Inhibitory RNA Products For PIGT
- genomics-online: shRNA clones - Search results for 128 available PIGT gene related products
- Overview of 128 available PIGT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PIGT gene
Clone Products
- Sino Biological Human cDNA Clone for PIGT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for PIGT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIGT
-
ViGene Biosciences adenoviral particle packaged cDNA for PIGT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PIGT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PIGT gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIGT Gene
Localization for PIGT Gene
Subcellular locations from UniProtKB/Swiss-Prot for PIGT Gene
- Endoplasmic reticulum membrane; Single-pass type I membrane protein.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGT Gene
Pathways & Interactions for PIGT Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Post-translational modification- synthesis of GPI-anchored proteins | ||
2 | Metabolism of proteins | ||
3 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
4 | Metabolism |
Pathways by source for PIGT Gene
2 KEGG pathways for PIGT Gene
UniProtKB/Swiss-Prot Q969N2-PIGT_HUMAN
- Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Interacting Proteins for PIGT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006506 | GPI anchor biosynthetic process | IEA | -- |
GO:0016255 | attachment of GPI anchor to protein | TAS,IEA | 11483512 |
GO:0030182 | neuron differentiation | IEA | -- |
GO:0051402 | neuron apoptotic process | IEA | -- |
No data available for SIGNOR curated interactions for PIGT Gene
Drugs & Compounds for PIGT Gene
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 |
|
Transcripts for PIGT Gene
mRNA/cDNA for PIGT Gene
- (6) REFSEQ mRNAs :
- (30) Additional mRNA sequences :
- (600) Selected AceView cDNA sequences:
- (72) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PIGT Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIGT
- genomics-online: gRNA clones - Search results for 128 available PIGT gene related products
- Overview of 128 available PIGT gene related products
- Applied Biological Materials CRISPR for PIGT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGT
- GenScript: Design CRISPR guide RNA sequences for PIGT
miRNA Products
- Search ViGene Biosciences for PIGT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for PIGT
- Browse OriGene Inhibitory RNA Products For PIGT
- genomics-online: shRNA clones - Search results for 128 available PIGT gene related products
- Overview of 128 available PIGT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PIGT gene
Clone Products
- Sino Biological Human cDNA Clone for PIGT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for PIGT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP21: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP22: |
ExUns: | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | |||||||||||||||||||||||
SP6: | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||
SP8: | |||||||||||||||||||||||
SP9: | |||||||||||||||||||||||
SP10: | |||||||||||||||||||||||
SP11: | |||||||||||||||||||||||
SP12: | |||||||||||||||||||||||
SP13: | |||||||||||||||||||||||
SP14: | |||||||||||||||||||||||
SP15: | |||||||||||||||||||||||
SP16: | |||||||||||||||||||||||
SP17: | - | - | |||||||||||||||||||||
SP18: | |||||||||||||||||||||||
SP19: | - | ||||||||||||||||||||||
SP20: | - | - | - | ||||||||||||||||||||
SP21: | |||||||||||||||||||||||
SP22: |
Expression for PIGT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIGT Gene
NURSA nuclear receptor signaling pathways regulating expression of PIGT Gene:
PIGTSOURCE GeneReport for Unigene cluster for PIGT Gene:
Hs.437388Evidence on tissue expression from TISSUES for PIGT Gene
- Nervous system(5)
- Skin(4.6)
- Blood(4.5)
- Liver(4.3)
- Intestine(3.8)
- Lung(3.1)
- Kidney(2.8)
- Pancreas(2.7)
- Spleen(2.4)
- Heart(2.1)
- Muscle(2.1)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGT Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- skull
- tooth
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- duodenum
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
- pelvis
- rectum
- ureter
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- blood
- blood vessel
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PIGT
-
OriGene qPCR primer pairs and template standards for PIGT
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGT Gene
Orthologs for PIGT Gene
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PIGT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PIGT 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pigt 33 |
|
||
dog (Canis familiaris) |
Mammalia | PIGT 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Pigt 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | PIGT 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | PIGT 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PIGT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PIGT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | pigt 33 |
|
||
Str.4301 33 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | pigt 33 34 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008540 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG11190 34 33 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | F17C11.7 34 |
|
OneToOne | |
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR333C 33 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GPI16 33 34 36 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09515g 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G07140 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os11g0479232 33 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU05644 33 |
|
- Species where no ortholog for PIGT was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- 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)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for PIGT Gene
No data available for Paralogs for PIGT Gene
Variants for PIGT Gene
SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs141420243 | benign, likely-benign, not specified, not provided | 45,418,853(+) | G/A/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs527236031 | pathogenic, Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 45,424,323(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs527236032 | pathogenic, Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 45,420,579(+) | /T | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
rs574183358 | uncertain-significance, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2 | 45,419,543(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs587777027 | pathogenic, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] | 45,419,348(+) | A/C | 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4319n100 | CNV | gain | 25217958 |
nsv1056102 | CNV | loss | 25217958 |
Additional Variant Information for PIGT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGT Gene
Disorders for PIGT Gene

(6) MalaCards diseases for PIGT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple congenital anomalies-hypotonia-seizures syndrome 3 |
|
|
paroxysmal nocturnal hemoglobinuria 2 |
|
|
paroxysmal nocturnal hemoglobinuria |
|
|
multiple congenital anomalies-hypotonia-seizures syndrome |
|
|
hemoglobinuria |
|
|
UniProtKB/Swiss-Prot
PIGT_HUMAN- Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. {ECO:0000269 PubMed:23636107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269 PubMed:23733340}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for PIGT
No data available for Genatlas for PIGT Gene
Publications for PIGT Gene
- Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PMID: 12582175) Ohishi K … Kinoshita T (The Journal of biological chemistry 2003) 3 4 22 58
- A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (PMID: 23733340) Krawitz PM … Schrezenmeier H (Blood 2013) 3 4 58
- A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (PMID: 23636107) Kvarnung M … Nordgren A (Journal of medical genetics 2013) 3 4 58
- The novel neurotrophin-regulated neuronal development-associated protein, NDAP, mediates apoptosis. (PMID: 16516892) Li HL … Yu AC (FEBS letters 2006) 3 22 58
- Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. (PMID: 15713669) Vainauskas S … Menon AK (The Journal of biological chemistry 2005) 2 3 58
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