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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 61
  • LDH-B 3 4
  • LDH-H 3 4
  • Epididymis Secretory Protein Li 281 3
  • Testicular Secretory Protein Li 25 3
  • L-Lactate Dehydrogenase B Chain 3
  • Lactate Dehydrogenase H Chain 3
  • HEL-S-281 3
  • EC 1.1.1 61
  • 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 Dressler's Syndrome. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Glucagon signaling pathway. GO annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is LDHA.

No data available for CIViC summary , 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

Enhancers for LDHB 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
GH12G021509 0.6 ENCODE 10.2 +248.0 248028 1.0 SREBF1 RAD51 POLR2A USF2 ASH2L SIN3A PYROXD1 SPX ENSG00000256615 LDHB RECQL GOLT1B
GH12G021638 0.5 ENCODE dbSUPER 11.2 +119.7 119666 0.1 ENSG00000256615 LDHB SPX GYS2 GC12P021652
GH12G022045 1 ENCODE 4.7 -289.7 -289700 3.9 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 SP5 REST ST8SIA1 LDHB CMAS LOC105369690
GH12G021513 0.4 FANTOM5 10.2 +244.6 244601 0.4 CTCF GYS2 ENSG00000256615 LDHB SPX GOLT1B
GH12G021551 0.4 ENCODE 10 +205.1 205137 3.0 ZNF366 SPX GYS2 ENSG00000256615 LDHB GC12M021550
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LDHB on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for LDHB Gene

P07195:
  • IKLKGYT
  • GEHGDSSV
  • DELALVDV
  • WSGVNVAGV
  • MDLQHGS
  • WAIGLSV
  • EKLGIHPS
  • ARFRYLM
  • LTYVTWKLSGLP
  • KDYSVTA
  • IIPQIVKYSP
  • PKHRVIG
  • NLDSARFR
  • DSENWKE
  • EDKLKGE
  • SCHGWILGEHGDS
  • NPVDILT
  • WKLSGLP
  • KSADTLW
  • VTAGVRQ
  • LKGYTNWAIG
  • DLQHGSLFL
  • VVESAYE
  • SKIVVVT
  • GVNVAGV
  • STMVKGM
  • ILGEHGD
  • VGVGQVGMA
  • LDSARFR
  • GMYGIENEVFLSLPC
  • VVSNPVD
  • NKITVVGVG
  • ACAISIL
  • IGSGCNLD
  • QKLKDDEV
  • GLTSVINQKLKD
  • VVSNPVDI

Post-translational modifications for LDHB Gene

  • Ubiquitination at posLast=6060, isoforms=77, posLast=9191, isoforms=119, posLast=233233, isoforms=308, isoforms=310, posLast=319319, and isoforms=332
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LDHB (Lactate Dehydrogenase B/LDHB)

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:0004457 lactate dehydrogenase activity IEA --
GO:0004459 L-lactate dehydrogenase activity IEA,EXP 1996957
GO:0005515 protein binding IPI 21044950
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with LDHB: view
genes like me logo Genes that share phenotypes with LDHB: view

Animal Models for LDHB Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LDHB

No data available for Human Phenotype Ontology , 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
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 LDHB gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 16130169
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0043209 myelin sheath IEA --
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:0005975 carbohydrate metabolic process IEA --
GO:0006089 lactate metabolic process IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0019674 NAD metabolic process IEA --
GO:0019752 carboxylic acid metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Stiripentol Approved Pharma An LDH inhibitor 8
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

(5) 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

(2) ApexBio Compounds for LDHB Gene

Compound Action Cas Number
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Stiripentol An LDH inhibitor 49763-96-4
genes like me logo Genes that share compounds with LDHB: view

Drug Products

Transcripts for LDHB Gene

Unigene Clusters for LDHB Gene

Lactate dehydrogenase B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LDHB

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LDHB Gene



Protein tissue co-expression partners for LDHB Gene

NURSA nuclear receptor signaling pathways regulating expression of LDHB Gene:

LDHB

SOURCE GeneReport for Unigene cluster for LDHB Gene:

Hs.446149

Evidence on tissue expression from TISSUES for LDHB Gene

  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.9)
  • Blood(4.8)
  • Skin(4.8)
  • Eye(4.7)
  • Lung(4.6)
  • Kidney(4.4)
  • Intestine(4.2)
  • Heart(3.8)
  • Pancreas(3.5)
  • Thyroid gland(2.6)
  • Bone(2.5)
  • Stomach(2.5)
  • Adrenal gland(2.4)
  • Lymph node(2.4)
  • Spleen(2.3)
  • Gall bladder(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with LDHB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LDHB 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 95 (a)
OneToMany
-- 35
  • 95 (a)
OneToMany
LDHB 34 35
  • 93.51 (n)
oppossum
(Monodelphis domestica)
Mammalia LDHB 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LDHB 34 35
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia Ldhb 34 16 35
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Ldhb 34
  • 86.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LDHB 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LDHB 34 35
  • 79.98 (n)
lizard
(Anolis carolinensis)
Reptilia LDHB 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ldhb 34
  • 75.65 (n)
MGC75741 34
African clawed frog
(Xenopus laevis)
Amphibia ldha-B 34
zebrafish
(Danio rerio)
Actinopterygii ldhba 34 35
  • 71.56 (n)
ldhbb 35
  • 68 (a)
OneToMany
ldhb 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3984 34
fruit fly
(Drosophila melanogaster)
Insecta ImpL3 36 35
  • 62 (a)
CG13334 36 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea ldh-1 36 35
  • 63 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11301 35
  • 58 (a)
OneToMany
Species where no ortholog for LDHB was found in the sources mined by GeneCards:
  • 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
rs118203895 other, Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] 21,642,032(-) ATTTC(A/G)CTACC reference, missense
rs118203896 other, Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] 21,643,971(-) AGTAC(A/C)GTCCT reference, missense
rs118203897 other, Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] 21,654,653(-) AGGAA(A/G)AACTC reference, missense
rs267607212 other, Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] 21,635,574(-) CCCTG(C/T)GGGAC reference, missense
rs777954556 Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128] 21,644,037(+) GAGCC(A/G)ACTCT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv557741 CNV gain 21841781
nsv557744 CNV loss 21841781
nsv637 CNV insertion 18451855
nsv832349 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
LDHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
dressler's syndrome
  • dressler syndrome
bladder urothelial carcinoma
  • bladder transitional cell carcinoma
maxillary sinus cancer
  • malignant neoplasm of antrum
paranasal sinus cancer
  • adenoid cystic carcinoma of accessory sinus
- 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.20}. 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. 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 22 46 64
  2. Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. (PMID: 1587525) Sudo K. … Toriumi J. (Hum. Genet. 1992) 3 4 22 64
  3. A missense mutation found in human lactate dehydrogenase-B (H) variant gene. (PMID: 2334429) Sudo K. … Li S.S.-L. (Biochem. Biophys. Res. Commun. 1990) 3 4 22 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64

Products for LDHB Gene

Sources for LDHB Gene

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