Gene Gene information from NCBI Gene database.
Entrez ID 2820
Gene name Glycerol-3-phosphate dehydrogenase 2
Gene symbol GPD2
Synonyms (NCBI Gene)
GDH2GPDMmGDHmGPDH
Chromosome 2
Chromosome location 2q24.1
Summary The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosp
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121918407 T>A,C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
877
miRTarBase ID miRNA Experiments Reference
MIRT005147 hsa-miR-30a-5p pSILAC 18668040
MIRT001364 hsa-miR-1-3p pSILAC 18668040
MIRT017991 hsa-miR-335-5p Microarray 18185580
MIRT001364 hsa-miR-1-3p Proteomics 18668040
MIRT001364 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0004368 Function Glycerol-3-phosphate dehydrogenase (quinone) activity IBA
GO:0004368 Function Glycerol-3-phosphate dehydrogenase (quinone) activity IDA 9070847
GO:0004368 Function Glycerol-3-phosphate dehydrogenase (quinone) activity IEA
GO:0004368 Function Glycerol-3-phosphate dehydrogenase (quinone) activity TAS
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138430 4456 ENSG00000115159
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43304
Protein name Glycerol-3-phosphate dehydrogenase, mitochondrial (GPD-M) (GPDH-M) (EC 1.1.5.3) (mitohondrial glycerophosphate dehydrogenase gene) (mGDH) (mtGPD)
Protein function Calcium-responsive mitochondrial glycerol-3-phosphate dehydrogenase which seems to be a key component of the pancreatic beta-cell glucose-sensing device.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01266 DAO 71 441 FAD dependent oxidoreductase Domain
PF16901 DAO_C 462 588 C-terminal domain of alpha-glycerophosphate oxidase Family
Sequence
Sequence length 727
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism   Synthesis of PA
Triglyceride catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Type 2 diabetes mellitus Pathogenic rs121918407 RCV000017461
★★★★☆
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE 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
Adult-onset citrullinemia type 2 Citrullinemia BEFREE 22921887
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 39509399 Associate
★☆☆☆☆
Found in Text Mining only
Citrin deficiency Citrin Deficiency BEFREE 22921887
★☆☆☆☆
Found in Text Mining only
CITRULLINEMIA, TYPE II, NEONATAL-ONSET Citrullinemia BEFREE 22921887
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 31893020 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 10491312, 11822825, 8687421, 8954787, 9084974
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CTD_human_DG 16123366
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 31815134 Associate
★☆☆☆☆
Found in Text Mining only