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LDHB Gene

protein-coding   GIFtS: 69
GCID: GC12M021788

Lactate Dehydrogenase B

  See LDHB-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lactate Dehydrogenase B1 2     HEL-S-2812
Renal Carcinoma Antigen NY-REN-462 3     TRG-52
LDH-B2 3     Epididymis Secretory Protein Li 2812
LDH-H2 3     L-Lactate Dehydrogenase B Chain2
LDH Heart Subunit2 3     Lactate Dehydrogenase H Chain2
EC 1.1.1.273 8     EC 1.1.18
LDHBD2 5     

External Ids:    HGNC: 65411   Entrez Gene: 39452   Ensembl: ENSG000001117167   OMIM: 1501005   UniProtKB: P071953   

Export aliases for LDHB gene to outside databases

Previous GC identifers: GC12M022074 GC12M021789 GC12M021688 GC12M021679 GC12M021561


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LDHB Gene:
This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH,
in the glycolytic pathway. Mutations in this gene are associated with lactate dehydrogenase B deficiency.
Pseudogenes have been identified on the X chromosome and on chromosome. Multiple alternatively spliced variants,
encoding the same protein, have been identified. (provided by RefSeq, Mar 2010)

GeneCards Summary for LDHB Gene:
LDHB (lactate dehydrogenase B) is a protein-coding gene. Diseases associated with LDHB include lactate dehydrogenase b deficiency. GO annotations related to this gene include NAD binding and identical protein binding. An important paralog of this gene is LDHAL6B.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LDHB gene promoter:
         GR   Sp1   Egr-4   POU2F1   POU2F1a   Sox9   GR-alpha   Pax-4a   TGIF   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLDHB promoter sequence
   Search Chromatin IP Primers for LDHB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LDHB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.2-p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.2-p12.1

LDHB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LDHB gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M021788:  view genomic region     (about GC identifiers)

Start:
21,788,275 bp from pter      End:
21,910,791 bp from pter
Size:
122,517 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LDHB_HUMAN, P07195 (See protein sequence)
Recommended Name: L-lactate dehydrogenase B chain  
Size: 334 amino acids; 36638 Da
Subunit: Homotetramer
2 PDB 3D structures from and Proteopedia for LDHB:
1I0Z (3D)        1T2F (3D)    

Explore the universe of human proteins at neXtProt for LDHB: NX_P07195

Explore proteomics data for LDHB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys7, Lys60, Lys77, Lys82, Lys91, Lys119, Lys233, Lys308, Lys310, Lys319,
                                 Lys329, Lys332
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LDHB (P07195) (see all 37)
     WKLSGLP  NPVDILT  VTAGVRQ  KSADTLW 


    See LDHB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001167568.1  NP_002291.1  

    ENSEMBL proteins: 
     ENSP00000379386   ENSP00000229319   ENSP00000379385   ENSP00000398015   ENSP00000442680  
    Reactome Protein details: P07195

    LDHB Human Recombinant Protein Products:

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    antibodies-online proteins for LDHB (50 products) 

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR011304 L-lactate_DH
     IPR001236 Lactate/malate_DH_N
     IPR018177 L-lactate_DH_AS
     IPR022383 Lactate/malate_DH_C
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P07195

    ProtoNet protein and cluster: P07195

    2 Blocks protein domains:
    IPB001557 L-lactate dehydrogenase
    IPB011304 L-lactate dehydrogenase


    UniProtKB/Swiss-Prot: LDHB_HUMAN, P07195
    Similarity: Belongs to the LDH/MDH superfamily. LDH family


    Find genes that share domains with LDHB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LDHB_HUMAN, P07195
    Catalytic activity: (S)-lactate + NAD(+) = pyruvate + NADH

         Genatlas biochemistry entry for LDHB:
    lactate dehydrogenase B,glycolysis,energy pathway

         Enzyme Numbers (IUBMB): EC 1.1.1.271 2 EC 1.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004457lactate dehydrogenase activity ----
    GO:0004459L-lactate dehydrogenase activity IEA--
    GO:0005515protein binding ----
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with LDHB           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LDHB:
     Increased HDAC inhibitor resis 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LDHB

    miRNA
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    miRTarBase miRNAs that target LDHB:
    hsa-mir-221-3p (MIRT046914), hsa-mir-185-5p (MIRT045350), hsa-mir-766-3p (MIRT039024), hsa-mir-324-5p (MIRT043198), hsa-mir-186-3p (MIRT038609), hsa-mir-375 (MIRT019875), hsa-mir-615-3p (MIRT040197), hsa-mir-197-3p (MIRT048133), hsa-mir-20a-5p (MIRT050573), hsa-mir-100-5p (MIRT048552)

    Block miRNA regulation of human, mouse, rat LDHB using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate LDHB:
    hsa-miR-375
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LDHB_HUMAN, P07195: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS16130169
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with LDHB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LDHB About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Valine, leucine and isoleucine degradation
    Propanoate metabolism0.31
    pyruvate fermentation to lactate0.00
    4Citric acid cycle (TCA cycle)
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Pyruvate metabolism0.00
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71


    Find genes that share SuperPaths with LDHB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for LDHB
        Metabolic States and Circadian Oscillators

    2 BioSystems Pathways for LDHB
        Glycolysis and Gluconeogenesis
    pyruvate fermentation to lactate


    2 Reactome Pathways for LDHB
        Pyruvate metabolism
    Abnormal metabolism in phenylketonuria


    5 Kegg Pathways  (Kegg details for LDHB):
        Glycolysis / Gluconeogenesis
    Cysteine and methionine metabolism
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: LDHB_HUMAN, P07195
    Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LDHB
    Interactions:

        Search GeneGlobe Interaction Network for LDHB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LDHB (P071952, 3 ENSP000002293194) via UniProtKB, MINT, STRING, and/or I2D (see all 141)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD22, 3, ENSP000003299674MINT-49288 I2D: score=2 STRING: ENSP00000329967
    ENSG00000206439P013753, ENSP000003729884I2D: score=1 STRING: ENSP00000372988
    ENSG00000230108P013753, ENSP000003894924I2D: score=1 STRING: ENSP00000389492
    ENSG00000204490P013753, ENSP000003652904I2D: score=1 STRING: ENSP00000365290
    ENSG00000223952P013753, ENSP000003894904I2D: score=1 STRING: ENSP00000389490
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006089lactate metabolic process IEA--
    GO:0006090pyruvate metabolic process TAS--
    GO:0006096glycolytic process IEA--
    GO:0019674NAD metabolic process IEA--

    Find genes that share ontologies with LDHB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LDHB

    8 HMDB Compounds for LDHB    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hydroxybutyric acid(RS)-2-Hydroxybutyrate (see all 29)600-15-7--
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    3-Mercaptolactic acid3-mercaptolactate (see all 5)2614-83-7--
    3-Mercaptopyruvic acid3-Mercaptopyruvate (see all 13)2464-23-5--
    L-Lactic acid(+)-Lactate (see all 35)79-33-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    4 DrugBank Compounds for LDHB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--4303363 16198644 17139284 12054772 17016423
    4-Hydroxy-1,2,5-Oxadiazole-3-Carboxylic Acid-- --target--17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423
    Oxamic Acid-- 471-47-6target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for LDHB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactate 75.7 39 2338075 (2), 16890323 (2), 15347626 (2), 16314837 (1) (see all 28)
    pyruvate 44.5 3 18789002 (1), 15347626 (1), 18325775 (1)
    glucose 0 6 18978174 (1), 15347626 (1), 16193382 (1)



    Find genes that share compounds with LDHB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LDHB gene (2 alternative transcripts): 
    NM_001174097.1  NM_002300.6  

    Unigene Cluster for LDHB:

    Lactate dehydrogenase B
    Hs.446149  [show with all ESTs]
    Unigene Representative Sequence: BG110199
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000542765 ENST00000470985 ENST00000396076(uc001rfd.3) ENST00000350669(uc001rfe.3)
    ENST00000396075 ENST00000470280 ENST00000450584 ENST00000539782 ENST00000544151
    ENST00000535112
    miRNA
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    Additional mRNA sequence: 

    AK129881.1 AK312328.1 AY189689.1 BC002362.1 BC015122.1 BC022835.1 BC071860.1 BT019764.1 
    BT019765.1 D28368.1 Y00711.1 

    Selected DOTS entries (see all 69):

    DT.100702174  DT.87017931  DT.92411683  DT.100672278  DT.92473622  DT.75187926  DT.100702141  DT.95270941 
    DT.92473652  DT.100702145  DT.121287530  DT.80101777  DT.92473698  DT.91797350  DT.100702166  DT.121210295 
    DT.99993984  DT.95270842  DT.100702143  DT.121210314  DT.91894242  DT.121210197  DT.92473669  DT.95361654 

    Selected AceView cDNA sequences (see all 3067):

    BM551886 CR602943 CR600793 AA321099 BM550797 AA858418 BE208784 CR598156 
    BM915498 AW673902 BI492027 BM824225 CD251134 BU157320 BQ072152 BU170999 
    AK129881 BM558000 BQ071807 CF456509 BP870501 BE408433 BQ669129 BC071860 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LDHB    About this scheme

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


    ECgene alternative splicing isoforms for LDHB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LDHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCACAGTT
    LDHB Expression
    About this image


    LDHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    LDHB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LDHB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446149
        Custom PCR Arrays for LDHB
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDHB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LDHB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ldhb1 , 5 lactate dehydrogenase B1, 5 86.33(n)1
    97.9(a)1
      6 (74.17 cM)5
    168321  NM_008492.21  NP_032518.11 
     1424902495 
    chicken
    (Gallus gallus)
    Aves LDHB1 lactate dehydrogenase B 79.98(n)
    90.39(a)
      373997  NM_204177.2  NP_989508.1 
    lizard
    (Anolis carolinensis)
    Reptilia LDHB6
    lactate dehydrogenase B
    76(a)
    1 ↔ 1
    5(6362177-6379442)
    African clawed frog
    (Xenopus laevis)
    Amphibia ldha-B2 lactate dehydrogenase A 80.75(n)    U07179.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ldhb2 lactate dehydrogenase B4 74.05(n)   30497  AF067202.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ImpL33 glycolysis L-lactate dehydrogenase 62(a)
    (best of 2)
      65A11   --
    worm
    (Caenorhabditis elegans)
    Secernentea ldh-13 L-lactate dehydrogenase 63(a)   II(11725228-11726333)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LDHB gene
    LDHAL6B2  UEVLD2  LDHAL6A2  LDHA2  LDHC2  
    5 SIMAP similar genes for LDHB using alignment to 5 protein entries:     LDHB_HUMAN (see all proteins):
    LDHA    LDHAL6A    LDHAL6B    LDHC    UEVLD

    Find genes that share paralogs with LDHB           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for LDHB
    PGOHUM00000248687 PGOHUM00000245444 PGOHUM00000235310 PGOHUM00000241405


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    LDHB_HUMAN, P07195: Rare LDHB variants result in deficiency of lactate dehydrogenase, a condition with no deleterious
    effects on health. LDHB deficiency is of interest to laboratory medicine mainly because it can cause misdiagnosis
    in those disorders in which elevation of serum LDH is expected. Lactate dehydrogenase deficiency can probably be
    considered a non-disease [MIM:614128]


    Selected SNPs for LDHB (see all 648)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs16771351,2
    C,F,H--21787920(-) TTGAGG/TCTACT 2 -- ds500115Minor allele frequency- T:0.06NS EA NA WA CSA 672
    rs1117079021,2
    C,F--21787941(+) CCAGAC/TCAAAC 2 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1423388841,2
    --21788118(+) AAACCA/GTGGCA 2 -- ds50010--------
    rs760551761,2
    --21788167(+) GGAGTA/GTAGAT 2 -- ds50010--------
    rs740667681,2
    C,F--21788197(+) ATTTAC/TGACGT 2 -- ds50011Minor allele frequency- T:0.50WA 2
    rs803334401,2
    C,F--21788200(+) TATGAC/TGTGTG 2 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1815818611,2
    --21788257(+) AGGAAA/GGAATC 2 -- ds50010--------
    rs1505036651,2
    C,F--21788488(+) TCTTTT/CAGGTC 4 /L syn11Minor allele frequency- C:0.00NA 4550
    rs1857414141,2
    C--21788591(+) GGGCAC/TTGAGG 4 N S mis10--------
    rs48281,2
    C,F,H--21788602(-) CTTCCA/GTGTAT 4 P syn114Minor allele frequency- C:0.01MN NS EA NA CSA WA 5801

    HapMap Linkage Disequilibrium report for LDHB (21788275 - 21910791 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for LDHB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv637CNV Insertion18451855
    nsv832349CNV Gain17160897

    Human Gene Mutation Database (HGMD): LDHB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LDHB
    DNA2.0 Custom Variant and Variant Library Synthesis for LDHB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 150100   
    OMIM disorders: 614128  
    1 disease for LDHB:    
    About MalaCards
    lactate dehydrogenase b deficiency

    1 disease from the University of Copenhagen DISEASES database for LDHB:
    Myocardial infarction

    Find genes that share disorders with LDHB           About GenesLikeMe

    4 Novoseek inferred disease relationships for LDHB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 7.45 5 16547507 (1), 12928234 (1), 16890323 (1), 12406979 (1)
    inflammation 0 1 1593572 (1)
    breast cancer 0 4 12160330 (1)
    tumors 0 4 12160330 (1)

    Genetic Association Database (GAD): LDHB
    Human Genome Epidemiology (HuGE) Navigator: LDHB (2 documents)

    Export disorders for LDHB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LDHB gene, integrated from 10 sources (see all 141):
    (articles sorted by number of sources associating them with LDHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. (PubMed id 1587525)1, 2, 9 Sudo K.... Toriumi J. (Hum. Genet. 1992)
    2. A missense mutation found in human lactate dehydrogenase-B (H) variant gene. (PubMed id 2334429)1, 2, 9 Sudo K.... Li S.S.-L. (Biochem. Biophys. Res. Commun. 1990)
    3. Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder. (PubMed id 12555229)1, 4, 9 Philibert R.A....Coryell W.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Structural basis for altered activity of M- and H-isozyme forms of human lactate dehydrogenase. (PubMed id 11276087)1, 2 Read J.A.... Brady R.L. (Proteins 2001)
    8. A novel missense mutation in human lactate dehydrogenase b-subunit gene. (PubMed id 11509017)1, 2 Takatani T.... Okamoto Y. (Mol. Genet. Metab. 2001)
    9. First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. (PubMed id 9929983)1, 2 Hidaka K.... Iuchi I. (J. Hum. Genet. 1999)
    10. A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. (PubMed id 10211631)1, 2 Sudo K....Kawano K. (Clin. Biochem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3945 HGNC: 6541 AceView: LDHB Ensembl:ENSG00000111716 euGenes: HUgn3945
    ECgene: LDHB Kegg: 3945 H-InvDB: LDHB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LDHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LDHB[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Lactate_dehydrogenase
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/109

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LDHB gene:
    Search GeneIP for patents involving LDHB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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