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Pdhb Gene Detail
Summary
  • Symbol
    Pdhb
  • Name
    pyruvate dehydrogenase (lipoamide) beta
  • Synonyms
    2610103L06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915513
    NCBI Gene: 68263
Location & Maps
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  • Genetic Map
    Chromosome 14, 4.74 cM
  • Mapping Data
    2 experiments
Homology
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  • Human Ortholog
    PDHB, pyruvate dehydrogenase (lipoamide) beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDHB, pyruvate dehydrogenase (lipoamide) beta
    Orthology source: HomoloGene
  • Synonyms
    PDHBD, PDHE1-B, PHE1B
  • Links
    NCBI Gene ID: 5162
    neXtProt AC: NX_P11177

  • Chr Location
    3p21.1-p14.2; chr3:58427630-58433852 (-)  GRCh38.p2

Human Diseases
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  • Diseases
    1 with human PDHB associations

Human Disease Mouse Models
       Pyruvate Dehydrogenase E1-Beta Deficiency; PDHBD   OMIM: 614111
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotype references
  • All Mutations and Alleles
    2
  • Gene trapped
    2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 68263 NCBI Gene Model | MGI Sequence Detail 7002 C57BL/6J ±  kb
transcript NM_024221 RefSeq | MGI Sequence Detail 1485 C57BL/6  
polypeptide Q9D051 UniProt | EBI | MGI Sequence Detail 359 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    69 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000012495 pyruvate dehydrogenase E1 component subunit beta, mitochondrial
  • EC
  • InterPro Domains
    IPR027110 Pyruvate dehydrogenase E1 component subunit beta
    IPR029061 Thiamin diphosphate-binding fold
    IPR033248 Transketolase, C-terminal domain
    IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
    IPR033247 Transketolase family
    IPR005475 Transketolase-like, pyrimidine-binding domain
Molecular
Reagents
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  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:2145717, MGI:2145868
References
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  • Summaries
    All 30
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 2
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:212391 Uslu VV, et al., Long-range enhancers regulating Myc expression are required for normal facial morphogenesis. Nat Genet. 2014 Jul;46(7):753-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory