Gene Gene information from NCBI Gene database.
Entrez ID 54965
Gene name Phosphatidylinositol glycan anchor biosynthesis class X
Gene symbol PIGX
Synonyms (NCBI Gene)
PIG-X
Chromosome 3
Chromosome location 3q29
Summary This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors du
miRNA miRNA information provided by mirtarbase database.
236
miRTarBase ID miRNA Experiments Reference
MIRT024277 hsa-miR-215-5p Microarray 19074876
MIRT026837 hsa-miR-192-5p Microarray 19074876
MIRT031052 hsa-miR-21-5p Microarray 18591254
MIRT1233644 hsa-miR-1182 CLIP-seq
MIRT1233645 hsa-miR-1193 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006506 Process GPI anchor biosynthetic process IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610276 26046 ENSG00000163964
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBF5
Protein name GPI alpha-1,4-mannosyltransferase I, stabilizing subunit (Phosphatidylinositol-glycan biosynthesis class X protein) (PIG-X)
Protein function Stabilizing subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to the glucosaminyl acyl phosphatidylino
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08320 PIG-X 54 251 PIG-X / PBN1 Domain
Sequence
Sequence length 258
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 29785011
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome Bardet-Biedl Syndrome CLINVAR_DG 29127258
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27572108
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27572108 Associate
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 27572108 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 27572108
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27572108
★☆☆☆☆
Found in Text Mining only
MORBID OBESITY AND SPERMATOGENIC FAILURE MORBID OBESITY AND SPERMATOGENIC FAILURE CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
obsolete Rod-cone dystrophy Rod-cone dystrophy CLINVAR_DG 29127258
★☆☆☆☆
Found in Text Mining only