Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3945
Gene name Gene Name - the full gene name approved by the HGNC.
Lactate dehydrogenase B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LDHB
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-281, LDH-B, LDH-H, LDHBD, TRG-5
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
Summary Summary of gene provided in NCBI Entrez 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 bee
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
150100 6541 ENSG00000111716
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glycogen Storage Disease glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, glycogen storage disease due to lactate dehydrogenase h-subunit deficiency N/A N/A GenCC, ClinVar
Associations from Text Mining Disease 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