Gene Gene information from NCBI Gene database.
Entrez ID 2821
Gene name Glucose-6-phosphate isomerase
Gene symbol GPI
Synonyms (NCBI Gene)
AMFCNSHA4GNPINLKPGIPHISA-36SA36
Chromosome 19
Chromosome location 19q13.11
Summary This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product function
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs61754634 C>T Pathogenic Coding sequence variant, missense variant
rs137853582 G>A Pathogenic Intron variant, coding sequence variant, missense variant
rs137853583 G>A,T Pathogenic Coding sequence variant, missense variant
rs137853584 T>C,G Pathogenic Coding sequence variant, missense variant
rs137853585 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
977
miRTarBase ID miRNA Experiments Reference
MIRT025482 hsa-miR-34a-5p Proteomics 21566225
MIRT052162 hsa-let-7b-5p CLASH 23622248
MIRT050947 hsa-miR-17-5p CLASH 23622248
MIRT045497 hsa-miR-149-5p CLASH 23622248
MIRT043341 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0001707 Process Mesoderm formation IEA
GO:0002639 Process Positive regulation of immunoglobulin production IDA 3020690
GO:0004347 Function Glucose-6-phosphate isomerase activity IBA
GO:0004347 Function Glucose-6-phosphate isomerase activity IDA 28803808
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172400 4458 ENSG00000105220
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06744
Protein name Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9) (Autocrine motility factor) (AMF) (Neuroleukin) (NLK) (Phosphoglucose isomerase) (PGI) (Phosphohexose isomerase) (PHI) (Sperm antigen 36) (SA-36)
Protein function In the cytoplasm, catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (PubMed:28803808). Besides it's role as a glycolytic enzyme, also acts as a
PDB 1IAT , 1IRI , 1JIQ , 1JLH , 1NUH , 6XUH , 6XUI , 8BBH , 8P2K , 9FCW , 9FHF , 9FKC , 9FKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00342 PGI 54 546 Phosphoglucose isomerase Domain
Sequence
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
  TP53 Regulates Metabolic Genes
Neutrophil degranulation
Glycolysis
Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GPI-related disorder Likely pathogenic rs752119540 RCV003911372
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic anemia due to glucophosphate isomerase deficiency Pathogenic; Likely pathogenic rs781245249, rs1364382189, rs769026153, rs1238884216, rs758132799, rs2074944986, rs757341382, rs2145419704, rs148811525, rs34306618, rs2145429665, rs2513825652, rs2513880015, rs771983073, rs137853583
View all (7 more)
RCV001803296
RCV001823208
RCV001783396
RCV003626692
RCV002227304
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spherocytosis Likely pathogenic rs2513787109 RCV003234639
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Pathogenic rs267606851 RCV005887502
★★★★☆
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
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations