Gene Gene information from NCBI Gene database.
Entrez ID 197257
Gene name Lactate dehydrogenase D
Gene symbol LDHD
Synonyms (NCBI Gene)
DLACDDLD
Chromosome 16
Chromosome location 16q23.1
Summary 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.
2
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.
248
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607490 19708 ENSG00000166816
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
Abnormal circulating lactate dehydrogenase concentration Likely pathogenic rs1567502487, rs764877688 RCV000722078
RCV000722079
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lactic aciduria due to D-lactic acid Likely pathogenic; Pathogenic rs1567502487, rs764877688, rs2036459233 RCV000766213
RCV000766212
RCV001093610
★★★★☆
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
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
D-LACTIC ACIDURIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
D-LACTIC ACIDURIA WITH GOUT HPO
★★☆☆☆
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
Acidosis Lactic Lactic acidosis Pubtator 40390331 Associate
★☆☆☆☆
Found in Text Mining only
Adenine phosphoribosyltransferase deficiency Adenine Phosphoribosyltransferase Deficiency BEFREE 8887680
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30980524
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29160911, 8631127
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 17553685, 27928113
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28109288
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23349017
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 14770182, 18166348, 24491301, 27196752
★☆☆☆☆
Found in Text Mining only
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY Oxoglutaricaciduria BEFREE 15712224
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37736681 Associate
★☆☆☆☆
Found in Text Mining only