Gene Gene information from NCBI Gene database.
Entrez ID 3945
Gene name Lactate dehydrogenase B
Gene symbol LDHB
Synonyms (NCBI Gene)
HEL-S-281LDH-BLDH-HLDHBDTRG-5
Chromosome 12
Chromosome location 12p12.1
Summary 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 bee
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs118203895 C>T Affects Coding sequence variant, missense variant
rs118203896 T>G Affects Coding sequence variant, missense variant
rs118203897 T>C Affects Coding sequence variant, missense variant
rs267607212 A>G Affects Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT019875 hsa-miR-375 Microarray 20215506
MIRT050573 hsa-miR-20a-5p CLASH 23622248
MIRT048552 hsa-miR-100-5p CLASH 23622248
MIRT048133 hsa-miR-197-3p CLASH 23622248
MIRT046914 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004457 Function Lactate dehydrogenase activity IEA
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IBA
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IDA 27618187
GO:0004459 Function L-lactate dehydrogenase (NAD+) activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
150100 6541 ENSG00000111716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07195
Protein name L-lactate dehydrogenase B chain (LDH-B) (EC 1.1.1.27) (LDH heart subunit) (LDH-H) (Renal carcinoma antigen NY-REN-46)
Protein function Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+).
PDB 1I0Z , 1T2F , 7DBJ , 7DBK , 8QDE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00056 Ldh_1_N 22 161 lactate/malate dehydrogenase, NAD binding domain Family
PF02866 Ldh_1_C 164 334 lactate/malate dehydrogenase, alpha/beta C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in aerobic tissues such as cardiac muscle. {ECO:0000305|PubMed:11276087}.
Sequence
Sequence length 334
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Cysteine and methionine metabolism
Pyruvate metabolism
Propanoate metabolism
Metabolic pathways
HIF-1 signaling pathway
Glucagon signaling pathway
Central carbon metabolism in cancer
  Pyruvate metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
37
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Affects; Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs118203895, rs118203896, rs118203897, rs267607212, rs1650289, rs147896432, rs74069329, rs141707607, rs144739734, rs750220072, rs369382991, rs886049164, rs532712842, rs375249355, rs886049166
View all (18 more)
RCV000015663
RCV000015664
RCV000015665
RCV000015666
RCV000306605
RCV000363662
RCV000374638
RCV000389088
RCV000303242
RCV000360135
RCV000404219
RCV000328482
RCV000366792
RCV000332159
RCV000317035
RCV000282511
RCV000338329
RCV000393958
RCV000271127
RCV000274571
RCV000278311
RCV000339890
RCV001115120
RCV001109487
RCV001109488
RCV001109489
RCV001111785
RCV001112252
RCV001112253
RCV001112255
RCV001113602
RCV001111786
RCV001112254
LDHB-related disorder Likely benign; Benign; Uncertain significance rs532712842, rs112045700, rs7966339 RCV003950045
RCV003975716
RCV003928710
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 30923124
Adenocarcinoma of Lung Associate 34335635
Alzheimer Disease Associate 37545529
Breast Diseases Associate 34092577
Breast Neoplasms Associate 21177384, 23437403, 23697991, 25575825, 34092577
Carcinoma Embryonal Stimulate 33565425
Carcinoma Hepatocellular Associate 26426634, 30923124, 33237575, 37803338
Carcinoma Non Small Cell Lung Associate 30453281
Carcinoma Renal Cell Associate 37547725
Cholangiocarcinoma Associate 34176927