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Hadhb Gene Detail
Summary
  • Symbol
    Hadhb
  • Name
    hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
  • Synonyms
    4930479F15Rik, Mtpb
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136381
    NCBI Gene: 231086
  • Gene Overview
    MyGene.info: HADHB
Location & Maps
more
  • Sequence Map
    Chr5:30155248-30184593 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29346 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 16.04 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    HADHB, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HADHB, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ECHB, MSTP029, MTPB, TP-BETA
  • Links
    NCBI Gene ID: 3032
    neXtProt AC: NX_P55084

  • Chr Location
    2p23; chr2:26244748-26290465 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hadhb mouse models; 1 with human HADHB associations

Human Disease Mouse Models
       Mitochondrial Trifunctional Protein Deficiency; MTPD   OMIM: 609015 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 1 allele in 1 genetic background
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    8
  • Radiation induced
    4
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    7 involving Hadhb
  • Incidental Mutations
Mice homozygous for an ENU-induced mutation display reduced postnatal weight gain, multifocal cardiac fibrosis and hepatic steatosis, and develop cardiac arrhythmias that range from a prolonged PR interval to complete atrioventricular dissociation and lead to sudden between 9 and 16 months of age.
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 OTTMUSG00000024744 VEGA Gene Model | MGI Sequence Detail 29346 C57BL/6J ±  kb
transcript OTTMUST00000061036 VEGA | MGI Sequence Detail 2045 Not Applicable  
polypeptide OTTMUSP00000029864 VEGA | MGI Sequence Detail 475 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    115 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1922043
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 10
    Phenotypes 28
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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
06/22/2016
MGI 6.04
The Jackson Laboratory