Gene Gene information from NCBI Gene database.
Entrez ID 132789
Gene name Glucosamine-6-phosphate deaminase 2
Gene symbol GNPDA2
Synonyms (NCBI Gene)
GNP2SB52
Chromosome 4
Chromosome location 4p12
Summary The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing bod
miRNA miRNA information provided by mirtarbase database.
171
miRTarBase ID miRNA Experiments Reference
MIRT002816 hsa-miR-1-3p Microarray 15685193
MIRT020422 hsa-miR-106b-5p Microarray 17242205
MIRT023359 hsa-miR-122-5p Microarray 17612493
MIRT002816 hsa-miR-1-3p Microarray 18668037
MIRT002816 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004342 Function Glucosamine-6-phosphate deaminase activity IBA
GO:0004342 Function Glucosamine-6-phosphate deaminase activity IDA 12616532
GO:0004342 Function Glucosamine-6-phosphate deaminase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 29892012, 32296183, 33961781
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613222 21526 ENSG00000163281
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDQ7
Protein name Glucosamine-6-phosphate deaminase 2 (GlcN6P deaminase 2) (EC 3.5.99.6) (Glucosamine-6-phosphate isomerase 2) (Glucosamine-6-phosphate isomerase SB52)
Protein function Catalyzes the reversible conversion of alpha-D-glucosamine 6-phosphate (GlcN-6P) into beta-D-fructose 6-phosphate (Fru-6P) and ammonium ion, a regulatory reaction step in de novo uridine diphosphate-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc) bios
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01182 Glucosamine_iso 7 237 Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with highest expression detected in testis, ovary, placenta, and heart. {ECO:0000269|PubMed:12616532}.
Sequence
Sequence length 276
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
  Glycolysis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BODY WEIGHT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS 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
Alzheimer Disease Alzheimer disease Pubtator 30342273 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 20816195, 26504195
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 20816195 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 19910641
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 19910641 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 25093408, 30816286, 31167208 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 25093408, 30816286
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 23588626
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome X Metabolic Syndrome BEFREE 21147891, 24269186
★☆☆☆☆
Found in Text Mining only
Niemann-Pick Disease, Type C1 Sphingomyelinase deficiency BEFREE 19851340
★☆☆☆☆
Found in Text Mining only