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Aliases for LDHB Gene

Aliases for LDHB Gene

  • Lactate Dehydrogenase B 2 3 5
  • Renal Carcinoma Antigen NY-REN-46 3 4
  • LDH Heart Subunit 3 4
  • EC 1.1.1.27 4 63
  • LDH-B 3 4
  • LDH-H 3 4
  • Epididymis Secretory Protein Li 281 3
  • Testicular Secretory Protein Li 25 3
  • Lactate Dehydrogenase H Chain 3
  • HEL-S-281 3
  • EC 1.1.1 63
  • LDHBD 3
  • TRG-5 3

External Ids for LDHB Gene

Previous GeneCards Identifiers for LDHB Gene

  • GC12M022074
  • GC12M021789
  • GC12M021688
  • GC12M021679
  • GC12M021788
  • GC12M021561

Summaries for LDHB Gene

Entrez Gene Summary for LDHB Gene

  • This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]

GeneCards Summary for LDHB Gene

LDHB (Lactate Dehydrogenase B) is a Protein Coding gene. Diseases associated with LDHB include lactate dehydrogenase b deficiency and glycogen storage disease due to lactate dehydrogenase h-subunit deficiency. Among its related pathways are Sulfur amino acid metabolism and Glucagon signaling pathway. GO annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is LDHC.

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

Genomics for LDHB Gene

Regulatory Elements for LDHB Gene


Genomic Location for LDHB Gene

Chromosome:
12
Start:
21,635,341 bp from pter
End:
21,757,857 bp from pter
Size:
122,517 bases
Orientation:
Minus strand

Genomic View for LDHB Gene

Genes around LDHB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LDHB Gene

Proteins for LDHB Gene

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

    Protein Symbol:
    P07195-LDHB_HUMAN
    Recommended name:
    L-lactate dehydrogenase B chain
    Protein Accession:
    P07195

    Protein attributes for LDHB Gene

    Size:
    334 amino acids
    Molecular mass:
    36638 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for LDHB Gene

neXtProt entry for LDHB Gene

Proteomics data for LDHB Gene at MOPED

Post-translational modifications for LDHB Gene

  • Ubiquitination at Lys 60, Lys 77, Lys 91, Lys 119, Lys 233, Lys 308, Lys 310, Lys 319, and Lys 332
  • Modification sites at PhosphoSitePlus

Other Protein References for LDHB Gene

Antibody Products

Domains & Families for LDHB Gene

Suggested Antigen Peptide Sequences for LDHB Gene

Graphical View of Domain Structure for InterPro Entry

P07195

UniProtKB/Swiss-Prot:

LDHB_HUMAN :
  • Belongs to the LDH/MDH superfamily. LDH family.
Family:
  • Belongs to the LDH/MDH superfamily. LDH family.
genes like me logo Genes that share domains with LDHB: view

No data available for Gene Families for LDHB Gene

Function for LDHB Gene

Molecular function for LDHB Gene

GENATLAS Biochemistry:
lactate dehydrogenase B,glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-lactate + NAD(+) = pyruvate + NADH.

Enzyme Numbers (IUBMB) for LDHB Gene

Gene Ontology (GO) - Molecular Function for LDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004459 L-lactate dehydrogenase activity EXP,IEA 1996957
GO:0005515 protein binding IPI 21044950
GO:0016491 oxidoreductase activity IEA --
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with LDHB: view
genes like me logo Genes that share phenotypes with LDHB: view

Human Phenotype Ontology for LDHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDHB Gene

MGI Knock Outs for LDHB:
  • Ldhb tm1b(KOMP)Wtsi

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for LDHB Gene

Localization for LDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDHB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LDHB Gene COMPARTMENTS Subcellular localization image for LDHB gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0045121 membrane raft IDA 25204797
genes like me logo Genes that share ontologies with LDHB: view

Pathways & Interactions for LDHB Gene

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

UniProtKB/Swiss-Prot P07195-LDHB_HUMAN

  • Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

Gene Ontology (GO) - Biological Process for LDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006089 lactate metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with LDHB: view

No data available for SIGNOR curated interactions for LDHB Gene

Drugs & Compounds for LDHB Gene

(8) Drugs for LDHB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra 0
4-Hydroxy-1,2,5-Oxadiazole-3-Carboxylic Acid Experimental Pharma Target 0
Oxamic Acid Experimental Pharma Target 0
2-Ketobutyric acid Experimental Pharma 0
NADH Nutra Target 0

(6) Additional Compounds for LDHB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • (RS)-2-Hydroxybutyrate
  • (RS)-2-Hydroxybutyric acid
  • 2-Hydroxy-Butanoate
  • 2-Hydroxy-Butanoic acid
  • 2-Hydroxy-DL-Butyrate
600-15-7
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
2614-83-7
3-Mercaptopyruvic acid
  • 3-Mercapto-pyruvate
  • 3-Mercapto-pyruvic acid
  • 3-Mercaptopyruvate
  • 3-Mercaptopyruvic acid
  • beta-3-Mercapto-2-oxo-propanoate
2464-23-5
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with LDHB: view

Transcripts for LDHB Gene

Unigene Clusters for LDHB Gene

Lactate dehydrogenase B:
Representative Sequences:

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

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

Relevant External Links for LDHB Gene

GeneLoc Exon Structure for
LDHB
ECgene alternative splicing isoforms for
LDHB

Expression for LDHB Gene

mRNA expression in normal human tissues for LDHB Gene

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

This gene is overexpressed in Heart - Left Ventricle (x5.5).

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



SOURCE GeneReport for Unigene cluster for LDHB Gene Hs.446149

genes like me logo Genes that share expression patterns with LDHB: view

Protein tissue co-expression partners for LDHB Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LDHB Gene

Orthologs for LDHB Gene

This gene was present in the common ancestor of animals.

Orthologs for LDHB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LDHB 35
  • 92.71 (n)
  • 98.2 (a)
LDHB 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LDHB 35
  • 93.51 (n)
  • 99.4 (a)
-- 36
  • 95 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
LDHB 36
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ldhb 35
  • 86.33 (n)
  • 97.9 (a)
Ldhb 16
Ldhb 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LDHB 35
  • 99.8 (n)
  • 99.7 (a)
LDHB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ldhb 35
  • 86.13 (n)
  • 97.9 (a)
oppossum
(Monodelphis domestica)
Mammalia LDHB 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDHB 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDHB 35
  • 79.98 (n)
  • 90.39 (a)
LDHB 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LDHB 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ldhb 35
  • 75.65 (n)
  • 84.43 (a)
MGC75741 35
African clawed frog
(Xenopus laevis)
Amphibia ldha-B 35
zebrafish
(Danio rerio)
Actinopterygii ldhb 35
ldhba 35
  • 71.56 (n)
  • 79.94 (a)
ldhba 36
  • 80 (a)
OneToMany
ldhbb 36
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3984 35
fruit fly
(Drosophila melanogaster)
Insecta CG13334 37
  • 39 (a)
ImpL3 37
  • 62 (a)
CG13334 36
  • 36 (a)
ManyToMany
ImpL3 36
  • 62 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ldh-1 37
  • 63 (a)
ldh-1 36
  • 62 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11301 36
  • 58 (a)
OneToMany
Species with no ortholog for LDHB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LDHB Gene

ENSEMBL:
Gene Tree for LDHB (if available)
TreeFam:
Gene Tree for LDHB (if available)

Paralogs for LDHB Gene

Paralogs for LDHB Gene

(5) SIMAP similar genes for LDHB Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for LDHB Gene

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

Variants for LDHB Gene

Sequence variations from dbSNP and Humsavar for LDHB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_004173 Lactate dehydrogenase B deficiency (LDHBD)
VAR_004174 Lactate dehydrogenase B deficiency (LDHBD)
VAR_004175 Lactate dehydrogenase B deficiency (LDHBD)
VAR_004176 Lactate dehydrogenase B deficiency (LDHBD)
VAR_004177 Lactate dehydrogenase B deficiency (LDHBD)

Structural Variations from Database of Genomic Variants (DGV) for LDHB Gene

Variant ID Type Subtype PubMed ID
nsv832349 CNV Gain 17160897
nsv637 CNV Insertion 18451855

Variation tolerance for LDHB Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDHB Gene

HapMap Linkage Disequilibrium report
LDHB
Human Gene Mutation Database (HGMD)
LDHB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDHB Gene

Disorders for LDHB Gene

MalaCards: The human disease database

(6) MalaCards diseases for LDHB Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lactate dehydrogenase b deficiency
  • lactate dehydrogenase deficiency type b
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency
  • lactate dehydrogenase b deficiency
urinary bladder urothelial carcinoma
  • bladder transitional cell carcinoma
dressler's syndrome
  • dressler syndrome
maxillary sinus cancer
  • malignant neoplasm of antrum
- elite association - COSMIC cancer census association via MalaCards
Search LDHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LDHB_HUMAN
  • Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]: A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. {ECO:0000269 PubMed:10211631, ECO:0000269 PubMed:11509017, ECO:0000269 PubMed:1587525, ECO:0000269 PubMed:2334429, ECO:0000269 PubMed:8314553, ECO:0000269 PubMed:8462975, ECO:0000269 PubMed:8611651, ECO:0000269 PubMed:9929983, ECO:0000269 Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LDHB

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

No data available for Genatlas for LDHB Gene

Publications for LDHB Gene

  1. Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. (PMID: 1587525) Sudo K. … Toriumi J. (Hum. Genet. 1992) 3 4 23 67
  2. A preliminary account of the properties of recombinant human Glyoxylate reductase (GRHPR), LDHA and LDHB with glyoxylate, and their potential roles in its metabolism. (PMID: 16198644) Mdluli K. … Rumsby G. (Biochim. Biophys. Acta 2005) 23 25
  3. Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder. (PMID: 12555229) Philibert R.A. … Coryell W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003) 3 23
  4. Identification of breast cancer-restricted antigens by antibody screening of SKBR3 cDNA library using a preselected patient's serum. (PMID: 12160330) Forti S. … MAcnard S. (Breast Cancer Res. Treat. 2002) 3 23
  5. Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit--LD-B Matsumoto I and II (LD-B W323R). (PMID: 10509905) Okumura N. … Katsuyama T. (Clin. Chim. Acta 1999) 3 23

Products for LDHB Gene

Sources for LDHB Gene

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