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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, INTRADUCTAL, NONINFILTRATING CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Affects; Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
ClinVar, GenCC, Orphanet
ClinVar, GenCC, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 30923124 Associate
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23224736, 28756978, 6948128
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23224736, 25620379
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37545529 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26657874
★☆☆☆☆
Found in Text Mining only
Atypical Ductal Breast Hyperplasia Breast Hyperplasia CTD_human_DG 23437403
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29289663
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 25266796
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23139210, 23437403, 23697991, 29463261
★☆☆☆☆
Found in Text Mining only