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 variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] See more...

Aliases for LDHD Gene

Aliases for LDHD Gene

  • Lactate Dehydrogenase D 2 3 4 5
  • Probable D-Lactate Dehydrogenase, Mitochondrial 3 4
  • DLD 3 4
  • D-Lactate Dehydrogenase 3
  • EC 1.1.2.4 4
  • DLACD 3
  • LDHD 5

External Ids for LDHD Gene

Previous GeneCards Identifiers for LDHD Gene

  • GC16M076106
  • GC16M074884
  • GC16M074925
  • GC16M073703
  • GC16M075145
  • GC16M060896

Summaries for LDHD Gene

Entrez Gene Summary for LDHD 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 variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for LDHD Gene

LDHD (Lactate Dehydrogenase D) is a Protein Coding gene. Diseases associated with LDHD include D-Lactic Aciduria With Gout and Lactate Dehydrogenase Deficiency. Among its related pathways are Metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on CH-OH group of donors. An important paralog of this gene is D2HGDH.

UniProtKB/Swiss-Prot Summary for LDHD Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LDHD Gene

Genomics for LDHD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LDHD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J075115 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 389 2 HNRNPL REST SOX13 IKZF1 KDM1A ZNF692 RBFOX2 IRF2 SP1 POLR2A LDHD ENSG00000214331 ADAT1 RFWD3 ZNRF1 ENSG00000259972 WDR59 ENSG00000247033
GH16J074787 Enhancer 0.3 Ensembl 4.9 +330.6 330594 0.4 ZFHX2 EGR2 LDHD ENSG00000261458 FA2H piR-40163-045 ZNRF1
GH16J074778 Enhancer 0.3 ENCODE dbSUPER 4.9 +337.9 337877 0.2 FA2H LDHD piR-40163-045 ZNRF1
GH16J075118 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 0.7 -2.6 -2608 2.4 GATAD2A RCOR2 FOXA1 CEBPA SOX13 ZNF10 FOXA2 YY1 CREB1 CREM ZFP1 ENSG00000261058 ZNRF1 LDHD
GH16J075104 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +7.5 7466 9.4 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 TFE3 LEF1 NFKBIZ ZNF692 ENSG00000247033 ENSG00000214331 ZNRF1 ENSG00000261783 RFWD3 ENSG00000207525 WDR59 HSALNG0112716 LDHD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LDHD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDHD

Top Transcription factor binding sites by QIAGEN in the LDHD gene promoter:
  • aMEF-2
  • AML1a
  • MEF-2A
  • MyoD
  • p53
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)
  • ZID

Genomic Locations for LDHD Gene

Genomic Locations for LDHD Gene
chr16:75,111,860-75,116,795
(GRCh38/hg38)
Size:
4,936 bases
Orientation:
Minus strand
chr16:75,145,758-75,150,670
(GRCh37/hg19)
Size:
4,913 bases
Orientation:
Minus strand

Genomic View for LDHD Gene

Genes around LDHD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDHD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDHD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDHD Gene

Proteins for LDHD Gene

  • Protein details for LDHD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WU2-LDHD_HUMAN
    Recommended name:
    Probable D-lactate dehydrogenase, mitochondrial
    Protein Accession:
    Q86WU2
    Secondary Accessions:
    • Q8IZK5

    Protein attributes for LDHD Gene

    Size:
    507 amino acids
    Molecular mass:
    54871 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Interacts with CSRP3.
    SequenceCaution:
    • Sequence=AAM50322.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for LDHD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LDHD Gene

Post-translational modifications for LDHD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LDHD Gene

Domains & Families for LDHD Gene

Gene Families for LDHD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for LDHD Gene

Suggested Antigen Peptide Sequences for LDHD Gene

GenScript: Design optimal peptide antigens:
  • Probable D-lactate dehydrogenase, mitochondrial (LDHD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WU2

UniProtKB/Swiss-Prot:

LDHD_HUMAN :
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with LDHD: view

Function for LDHD Gene

Molecular function for LDHD Gene

UniProtKB/Swiss-Prot Function:
Involved in D-lactate, but not L-lactate catabolic process.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-lactate + 2 [Fe(III)cytochrome c] = 2 [Fe(II)cytochrome c] + 2 H(+) + pyruvate; Xref=Rhea:RHEA:13521, Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16004, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=1.1.2.4;.

Enzyme Numbers (IUBMB) for LDHD Gene

Phenotypes From GWAS Catalog for LDHD Gene

Gene Ontology (GO) - Molecular Function for LDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004458 D-lactate dehydrogenase (cytochrome) activity IBA 21873635
GO:0005515 protein binding IPI 12127981
GO:0008720 D-lactate dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with LDHD: view
genes like me logo Genes that share phenotypes with LDHD: view

Human Phenotype Ontology for LDHD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LDHD Gene

miRTarBase miRNAs that target LDHD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHD

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LDHD Gene

Localization for LDHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDHD Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LDHD gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,ISS --
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with LDHD: view

Pathways & Interactions for LDHD Gene

genes like me logo Genes that share pathways with LDHD: view

Pathways by source for LDHD Gene

2 BioSystems pathways for LDHD Gene
2 Reactome pathways for LDHD Gene
2 KEGG pathways for LDHD Gene
1 Qiagen pathway for LDHD Gene
  • Metabolic States and Circadian Oscillators

Gene Ontology (GO) - Biological Process for LDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
GO:1903457 lactate catabolic process IMP 30931947
genes like me logo Genes that share ontologies with LDHD: view

No data available for SIGNOR curated interactions for LDHD Gene

Drugs & Compounds for LDHD Gene

(5) Drugs for LDHD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
D-Lactic acid Experimental Pharma Agonist, Full agonist 0

(3) Additional Compounds for LDHD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with LDHD: view

Transcripts for LDHD Gene

mRNA/cDNA for LDHD Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHD

Alternative Splicing Database (ASD) splice patterns (SP) for LDHD Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2: - - -
SP3:
SP4: - -
SP5:

Relevant External Links for LDHD Gene

GeneLoc Exon Structure for
LDHD

Expression for LDHD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LDHD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDHD Gene

This gene is overexpressed in Liver (x7.8) and Heart - Left Ventricle (x5.9).

Protein differential expression in normal tissues from HIPED for LDHD Gene

This gene is overexpressed in Heart (16.0), Liver (10.5), Stomach (9.1), and Skin (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LDHD Gene



Protein tissue co-expression partners for LDHD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDHD

SOURCE GeneReport for Unigene cluster for LDHD Gene:

Hs.380929

mRNA Expression by UniProt/SwissProt for LDHD Gene:

Q86WU2-LDHD_HUMAN
Tissue specificity: Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for LDHD Gene

  • Liver(4.5)
  • Heart(2.5)
  • Muscle(2.4)
  • Kidney(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with LDHD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LDHD Gene

Orthologs for LDHD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LDHD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LDHD 30 31
  • 99.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LDHD 30 31
  • 86.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LDHD 30 31
  • 84.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ldhd 30
  • 82.14 (n)
Mouse
(Mus musculus)
Mammalia Ldhd 30 17 31
  • 81.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LDHD 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LDHD 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LDHD 30 31
  • 72.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LDHD 31
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ldhd 30
  • 66.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25110 30
Zebrafish
(Danio rerio)
Actinopterygii ldhd 30 31
  • 64.72 (n)
OneToOne
wufi36b04 30
Worm
(Caenorhabditis elegans)
Secernentea F32D8.12 30 31
  • 50.28 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER321W 30
  • 46.33 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01397g 30
  • 44.57 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD1 31 33
  • 27 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G06580 30
  • 48.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10533 31
  • 53 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02179 30
  • 50.25 (n)
Species where no ortholog for LDHD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LDHD Gene

ENSEMBL:
Gene Tree for LDHD (if available)
TreeFam:
Gene Tree for LDHD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LDHD: view image

Paralogs for LDHD Gene

Paralogs for LDHD Gene

genes like me logo Genes that share paralogs with LDHD: view

Variants for LDHD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDHD Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
720511 Benign: not provided 75,114,681(-) T/C SYNONYMOUS_VARIANT
768793 Benign: not provided 75,112,631(-) C/G MISSENSE_VARIANT
768794 Benign: not provided 75,114,695(-) G/A INTRON_VARIANT
770256 Benign: not provided 75,112,615(-) C/T MISSENSE_VARIANT
770257 Benign: not provided 75,114,624(-) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LDHD Gene

Variation tolerance for LDHD Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDHD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDHD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LDHD Gene

Disorders for LDHD Gene

MalaCards: The human disease database

(7) MalaCards diseases for LDHD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
d-lactic aciduria with gout
  • dlacd
lactate dehydrogenase deficiency
  • deficiency of lactate dehydrogenase
hodgkin's lymphoma, mixed cellularity
  • hodgkin's disease, mixed cellularity
prolapse of urethra
  • urethrocele
cardiomyopathy, familial hypertrophic, 12
  • cmh12
- elite association - COSMIC cancer census association via MalaCards
Search LDHD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LDHD_HUMAN
  • D-lactic aciduria (DLACD) [MIM:245450]: An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. {ECO:0000269 PubMed:30931947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LDHD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LDHD: view

No data available for Genatlas for LDHD Gene

Publications for LDHD Gene

  1. Identification of putative mammalian D-lactate dehydrogenase enzymes. (PMID: 12127981) Flick MJ … Konieczny SF (Biochemical and biophysical research communications 2002) 2 3 4
  2. Identification of human D lactate dehydrogenase deficiency. (PMID: 30931947) Monroe GR … Jans JJ (Nature communications 2019) 3 4
  3. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for LDHD Gene

Sources for LDHD Gene