Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
197257
Gene name Gene Name - the full gene name approved by the HGNC.
Lactate dehydrogenase D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LDHD
Synonyms (NCBI Gene) Gene synonyms aliases
DLACD, DLD
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript va
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs764877688 G>A,C Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
rs1567502487 C>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT704220 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT704219 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT704218 hsa-miR-17-5p HITS-CLIP 23313552
MIRT704217 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT704216 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004457 Function Lactate dehydrogenase activity IDA 38373542
GO:0004458 Function D-lactate dehydrogenase (cytochrome) activity IBA
GO:0004458 Function D-lactate dehydrogenase (cytochrome) activity IEA
GO:0005515 Function Protein binding IPI 12127981
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607490 19708 ENSG00000166816
Protein
UniProt ID Q86WU2
Protein name Probable D-lactate dehydrogenase, mitochondrial (DLD) (Lactate dehydrogenase D) (EC 1.1.2.4)
Protein function Involved in D-lactate, but not L-lactate catabolic process.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01565 FAD_binding_4 66 203 FAD binding domain Domain
PF02913 FAD-oxidase_C 265 506 FAD linked oxidases, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney. {ECO:0000269|PubMed:12127981}.
Sequence
Sequence length 507
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pyruvate metabolism
Metabolic pathways
  Mitochondrial protein import
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease (time to surgery) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37587457
Carcinoma Hepatocellular Associate 38291366
Cholangiocarcinoma Associate 36158120
Colitis Ulcerative Associate 37090740
Esophageal Neoplasms Associate 37582812
Esophageal Squamous Cell Carcinoma Associate 37582812
Myoma Associate 29620641
Neoplasms Associate 29620641, 38291366
Sarcoma Associate 29620641