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... See more...

Aliases for PIGT Gene

Aliases for PIGT Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class T 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class T Protein 3 4
  • GPI Transamidase Component PIG-T 3 4
  • GPI Transamidase Subunit 2 3
  • Neurotrophin-Regulated Neuronal Development-Associated Protein 3
  • Phosphatidylinositol Glycan, Class T 2
  • CGI-06 3
  • MCAHS3 3
  • NDAP 3
  • PNH2 3

External Ids for PIGT Gene

Previous GeneCards Identifiers for PIGT Gene

  • GC20P043773
  • GC20P044683
  • GC20P044730
  • GC20P043478
  • GC20P044044
  • GC20P040786

Summaries for PIGT Gene

Entrez Gene Summary 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 Summary for PIGT Gene

  • Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

Gene Wiki entry for PIGT Gene

Additional gene information for PIGT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGT Gene

Genomics for PIGT Gene

GeneHancer (GH) Regulatory Elements for PIGT Gene

Promoters and enhancers for PIGT 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
GH20J045415 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.2 234 2.2 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 PIGT lnc-TP53TG5-3 DBNDD2 NCOA5 TP53TG5 CD40 ENSG00000271984 SLC35C2 SYS1 ZNF335
GH20J045967 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.1 +554.8 554807 5.8 EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC ZNF335 lnc-PCIF1-2 NCOA5 ZNF334 TP53RK SLC35C2 PCIF1 CD40 ZNF663P SYS1
GH20J045334 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -74.0 -73987 14.4 EP300 FOXK2 ZNF217 TCF12 POLR2G USF1 NCOR1 RBAK PHF8 JUND SDC4 NCOA5 PCIF1 ZNF335 ZSWIM1 SPATA25 SNX21 CD40 DBNDD2 SYS1-DBNDD2
GH20J044475 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -939.8 -939785 2.6 EP300 ZBTB40 CTCF NRF1 POLR2G SP1 GTF2E2 PHF8 ZIC2 POLR2A TTPAL SYS1 PIGT PKIG piR-49439
GH20J045372 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 12.1 -42.5 -42462 2 ZNF217 CTCF TCF12 NRF1 ZNF10 GABPA AFF1 REST ZNF740 MYC DBNDD2 TP53TG5 PIGT SYS1 KCNS1 WFDC11 lnc-TP53TG5-6 SYS1-DBNDD2 NDUFB4P10 lnc-SDC4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGT

Top Transcription factor binding sites by QIAGEN in the PIGT gene promoter:
  • AML1a
  • ATF-2
  • CRE-BP1
  • GATA-1
  • HSF2
  • Lmo2
  • MZF-1
  • Nkx2-5
  • STAT5A

Genomic Locations for PIGT Gene

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)
Size:
10,178 bases
Orientation:
Plus strand

Genomic View for PIGT Gene

Genes around PIGT on UCSC Golden Path with GeneCards custom track

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

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
    Secondary Accessions:
    • 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.
    Miscellaneous:
    • [Isoform 3]: May be due to intron retention.
    SequenceCaution:
    • Sequence=AAD27715.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB57341.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGT Gene

neXtProt entry for PIGT Gene

Post-translational modifications for PIGT Gene

  • The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
  • Glycosylation at Asn291, Asn327, and Asn164
  • Ubiquitination at Lys337, Lys339, and Lys365
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

Protein Domains for PIGT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61680, highly similar to GPI transamidase component PIG-T (B7Z1N3_HUMAN)
  • cDNA FLJ50975, highly similar to GPI transamidase component PIG-T (B7Z3N1_HUMAN)
  • Phosphatidylinositol-glycan biosynthesis class T protein (PIGT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969N2

UniProtKB/Swiss-Prot:

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

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with PIGT: view
genes like me logo Genes that share phenotypes with PIGT: view

Human Phenotype Ontology for PIGT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGT Gene

MGI Knock Outs for PIGT:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGT

CRISPR Products

miRNA for PIGT Gene

miRTarBase miRNAs that target PIGT

Clone Products

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.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for PIGT Gene

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 --
genes like me logo Genes that share ontologies with PIGT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGT Gene

Pathways & Interactions for PIGT Gene

genes like me logo Genes that share pathways with PIGT: view

UniProtKB/Swiss-Prot Q969N2-PIGT_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with PIGT: view

No data available for SIGNOR curated interactions for PIGT Gene

Drugs & Compounds for PIGT Gene

(4) Drugs for PIGT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phytosphingosine Experimental Pharma 0
Sphingosine 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

(893) Additional Compounds for PIGT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGT: view

Transcripts for PIGT Gene

mRNA/cDNA for PIGT Gene

4 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
72 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

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:

Relevant External Links for PIGT Gene

GeneLoc Exon Structure for
PIGT

Expression for PIGT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGT Gene

This gene is overexpressed in Bone (8.3).

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



Protein tissue co-expression partners for PIGT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGT

SOURCE GeneReport for Unigene cluster for PIGT Gene:

Hs.437388

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
Limb:
  • 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
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PIGT: view

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.

Orthologs for PIGT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGT 31 30
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGT 31 30
  • 90.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigt 30
  • 89.21 (n)
dog
(Canis familiaris)
Mammalia PIGT 31 30
  • 88.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pigt 17 31 30
  • 88.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGT 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGT 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGT 31 30
  • 74.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGT 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigt 30
  • 69 (n)
Str.4301 30
zebrafish
(Danio rerio)
Actinopterygii pigt 31 30
  • 67.82 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008540 30
  • 53.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11190 31 30
  • 50.72 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F17C11.7 31
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR333C 30
  • 48.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI16 33 31 30
  • 46.78 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09515g 30
  • 45.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07140 30
  • 46.69 (n)
rice
(Oryza sativa)
Liliopsida Os11g0479232 30
  • 45.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05644 30
  • 50.32 (n)
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)

Evolution for PIGT Gene

ENSEMBL:
Gene Tree for PIGT (if available)
TreeFam:
Gene Tree for PIGT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGT: view image

Paralogs for PIGT Gene

No data available for Paralogs for PIGT Gene

Variants for PIGT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGT Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
639214 Pathogenic: Multiple congenital anomalies-hypotonia-seizures syndrome 3 45,420,358(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
644490 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 3 45,425,617(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
660514 Pathogenic: Multiple congenital anomalies-hypotonia-seizures syndrome 3 45,420,397(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
714586 Likely Benign: not provided 45,420,578(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
714819 Benign: not provided 45,424,512(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for PIGT Gene

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

Variant ID Type Subtype PubMed ID
dgv4319n100 CNV gain 25217958
nsv1056102 CNV loss 25217958

Variation tolerance for PIGT Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.52; 64.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGT Gene

MalaCards: The human disease database

(10) MalaCards diseases for PIGT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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

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

genes like me logo Genes that share disorders with PIGT: view

No data available for Genatlas for PIGT Gene

Publications for PIGT Gene

  1. 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 23 54
  2. 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 54
  3. 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 54
  4. The novel neurotrophin-regulated neuronal development-associated protein, NDAP, mediates apoptosis. (PMID: 16516892) Li HL … Yu AC (FEBS letters 2006) 3 23 54
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54

Products for PIGT Gene