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Aliases for LDHD Gene

Aliases for LDHD Gene

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

External Ids for LDHD Gene

Previous GeneCards Identifiers for LDHD Gene

  • GC16M076106
  • GC16M074884
  • GC16M074925
  • GC16M073703
  • 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. Among its related pathways are Metabolic States and Circadian Oscillators and Mitochondrial protein import. 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 AGPS.

Additional gene information for LDHD Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDHD Gene

Genomics for LDHD Gene

Regulatory Elements for LDHD Gene

Enhancers for LDHD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H074778 0.5 ENCODE dbSUPER 4.9 +337.9 337855 0.2 FA2H LDHD LOC105371343
GH16H075115 1.2 ENCODE dbSUPER 0.7 +0.1 98 1.5 MLX ARID4B YY1 SP5 MXD4 NFYC REST MIER2 KAT8 NFIL3 ZNRF1 LDHD ENSG00000247033
GH16H075118 0.6 ENCODE 0.7 -2.1 -2103 0.8 SOX5 GATAD2A ETV4 POU5F1 HNF4A NR2F6 PPARG MIXL1 ZFP1 ENSG00000261058 LDHD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LDHD on UCSC Golden Path with GeneCards custom track

Promoters for LDHD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087962 272 601 MLX ARID4B YY1 SP5 MXD4 NFYC REST MIER2 KAT8 NFIL3

Genomic Locations for LDHD Gene

Genomic Locations for LDHD Gene
chr16:75,111,860-75,116,772
(GRCh38/hg38)
Size:
4,913 bases
Orientation:
Minus strand
chr16:75,145,758-75,150,670
(GRCh37/hg19)

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; Positions=Several; 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

Other Protein References for LDHD Gene

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

Suggested Antigen Peptide Sequences for LDHD Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
(R)-lactate + 2 ferricytochrome c = pyruvate + 2 ferrocytochrome c + 2 H(+).

Enzyme Numbers (IUBMB) for LDHD Gene

Gene Ontology (GO) - Molecular Function for LDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004458 D-lactate dehydrogenase (cytochrome) activity IEA --
GO:0005515 protein binding IPI 12127981
GO:0016491 oxidoreductase activity IEA --
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with LDHD: view
genes like me logo Genes that share phenotypes with LDHD: view

miRNA for LDHD Gene

miRTarBase miRNAs that target LDHD

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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
cytosol 2
extracellular 1
nucleus 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 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
1 KEGG pathway for LDHD Gene
1 Qiagen pathway for LDHD Gene

Gene Ontology (GO) - Biological Process for LDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
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 0

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

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

Transcripts for LDHD Gene

Unigene Clusters for LDHD Gene

Lactate dehydrogenase D:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
LDHD

Expression for LDHD Gene

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

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, PaxDb, MaxQB, and MOPED for LDHD Gene



Protein tissue co-expression partners for LDHD Gene

NURSA nuclear receptor signaling pathways regulating expression of LDHD Gene:

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(4.4)
genes like me logo Genes that share expression patterns with LDHD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 33 34
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia LDHD 33 34
  • 86.65 (n)
dog
(Canis familiaris)
Mammalia LDHD 33 34
  • 84.84 (n)
rat
(Rattus norvegicus)
Mammalia Ldhd 33
  • 82.14 (n)
mouse
(Mus musculus)
Mammalia Ldhd 33 16 34
  • 81.96 (n)
oppossum
(Monodelphis domestica)
Mammalia LDHD 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDHD 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDHD 33 34
  • 72.89 (n)
lizard
(Anolis carolinensis)
Reptilia LDHD 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ldhd 33
  • 66.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25110 33
zebrafish
(Danio rerio)
Actinopterygii ldhd 33 34
  • 64.72 (n)
wufi36b04 33
worm
(Caenorhabditis elegans)
Secernentea F32D8.12 33 34
  • 50.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER321W 33
  • 46.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01397g 33
  • 44.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DLD1 34 36
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06580 33
  • 48.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10533 34
  • 53 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02179 33
  • 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 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)

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 from dbSNP and Humsavar for LDHD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000467084 -- 75,118,600(+) TGATG(C/T)CTCCC upstream-variant-2KB
rs1000584335 -- 75,117,595(+) ACCTC(A/C/G)TGATC upstream-variant-2KB
rs1000993720 -- 75,113,082(+) CCTCC(C/T)CCCGA intron-variant
rs1002000786 -- 75,112,125(+) ACCAC(C/T)CTGGG utr-variant-3-prime
rs1002053315 -- 75,111,905(+) GGGAG(A/G)CCCCA utr-variant-3-prime

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)

Relevant External Links for LDHD Gene

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

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

Relevant External Links for LDHD

Genetic Association Database (GAD)
LDHD
Human Genome Epidemiology (HuGE) Navigator
LDHD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDHD

No disorders were found for LDHD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and 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 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 45 60
  4. 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 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for LDHD Gene

Sources for LDHD Gene

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