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Aliases for HADHB Gene

Aliases for HADHB Gene

  • Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Beta 2 3 5
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit 2 3
  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit 2 3
  • 3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional Protein, Beta Subunit 3
  • Mitochondrial Trifunctional Protein, Beta Subunit 2
  • 2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit 3
  • Trifunctional Enzyme Subunit Beta, Mitochondrial 3
  • Acetyl-CoA Acyltransferase 3
  • Beta-Ketothiolase 3
  • MSTP029 3
  • TP-BETA 3
  • TP-Beta 4
  • ECHB 3
  • MTPB 3

External Ids for HADHB Gene

Previous GeneCards Identifiers for HADHB Gene

  • GC02P026389
  • GC02P026560
  • GC02P026442
  • GC02P026379
  • GC02P026321
  • GC02P026466
  • GC02P026213

Summaries for HADHB Gene

Entrez Gene Summary for HADHB Gene

  • This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for HADHB Gene

HADHB (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Beta) is a Protein Coding gene. Diseases associated with HADHB include Mitochondrial Trifunctional Protein Deficiency and Peroxisomal Disease. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAA1.

Gene Wiki entry for HADHB Gene

Additional gene information for HADHB Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADHB Gene

Genomics for HADHB Gene

GeneHancer (GH) Regulatory Elements for HADHB Gene

Promoters and enhancers for HADHB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J026242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1645 5.5 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPARGC1A HADHA HADHB CAD TMEM214 DNMT3A ASXL2 ATRAID RPS2P15 GAREM2 LOC105374334
GH02J026298 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 +56.7 56677 3.3 HDGF DMAP1 BATF ZNF48 YY1 ZNF335 EGR1 ZNF143 ZFP91 ETV6 LOC105374334 SELENOI HADHB HADHA ADGRF3 ASXL2 ATRAID CAD DRC1 DNMT3A
GH02J026292 Enhancer 1 Ensembl ENCODE dbSUPER 22.8 +49.7 49681 1 MNT RFX5 GATA3 ATF4 ZFHX2 EGR1 IKZF1 FOS EGR2 HADHA HADHB ADGRF3 LOC105374334 GC02P026059
GH02J026184 Promoter/Enhancer 1.4 Ensembl ENCODE 10.4 -57.7 -57705 1.9 HDGF ATF1 ETS1 ZNF766 CBX5 ZNF207 ZNF143 ATF7 REST ZNF592 SELENOI KIF3C ADGRF3 HADHA HADHB GAREM2 GC02P026194 GC02P026059
GH02J026362 Enhancer 0.9 ENCODE dbSUPER 15.8 +120.3 120274 1.3 FOXA2 ZNF266 MAX FOSL1 CTBP1 GATA3 ZNF316 HNF4G FOS NFE2 GTF3C2 HADHB CAD LOC105374363 TMEM214 ADGRF3 ASXL2 GTF3C2-AS1 HADHA RPS2P15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HADHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HADHB gene promoter:
  • STAT5A
  • Egr-3
  • HNF-1A
  • HNF-1
  • Egr-4
  • GATA-2
  • GR
  • GR-alpha
  • SRF (504 AA)
  • SRF

Genomic Locations for HADHB Gene

Genomic Locations for HADHB Gene
47,299 bases
Plus strand
47,299 bases
Plus strand

Genomic View for HADHB Gene

Genes around HADHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HADHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADHB Gene

Proteins for HADHB Gene

  • Protein details for HADHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Trifunctional enzyme subunit beta, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RB16
    • B4E2W0
    • O14969
    • Q53TA6
    • Q96C77
    • Q9H3F5
    • Q9T2V8

    Protein attributes for HADHB Gene

    474 amino acids
    Molecular mass:
    51294 Da
    Quaternary structure:
    • Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin.
    • Sequence=BAA22061.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HADHB Gene


neXtProt entry for HADHB Gene

Post-translational modifications for HADHB Gene

  • Ubiquitination at isoforms=2268
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HADHB Gene

Domains & Families for HADHB Gene

Gene Families for HADHB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the thiolase family.
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with HADHB: view

Function for HADHB Gene

Molecular function for HADHB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
GENATLAS Biochemistry:
mitochondrial,membrane bound fatty acid beta-oxidation trifunctional enzyme,beta subunit,harboring the long chain 3-oxoacyl-CoA thiolase

Gene Ontology (GO) - Molecular Function for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS 1550553
GO:0003988 acetyl-CoA C-acyltransferase activity TAS,IBA --
GO:0004300 enoyl-CoA hydratase activity TAS 1550553
genes like me logo Genes that share ontologies with HADHB: view
genes like me logo Genes that share phenotypes with HADHB: view

Human Phenotype Ontology for HADHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for HADHB Gene

Localization for HADHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHB Gene

Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic reticulum.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HADHB gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
nucleus 3
peroxisome 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 7958339
GO:0005740 mitochondrial envelope TAS 1550553
GO:0005741 mitochondrial outer membrane IEA,IDA 21527675
GO:0005743 mitochondrial inner membrane TAS --
GO:0005783 endoplasmic reticulum IDA,IEA 21527675
genes like me logo Genes that share ontologies with HADHB: view

Pathways & Interactions for HADHB Gene

genes like me logo Genes that share pathways with HADHB: view

UniProtKB/Swiss-Prot P55084-ECHB_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS,IBA --
GO:0008152 metabolic process IEA --
GO:0035965 cardiolipin acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with HADHB: view

No data available for SIGNOR curated interactions for HADHB Gene

Drugs & Compounds for HADHB Gene

(19) Drugs for HADHB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

(63) Additional Compounds for HADHB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
genes like me logo Genes that share compounds with HADHB: view

Transcripts for HADHB Gene

Unigene Clusters for HADHB Gene

Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HADHB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - -
SP2: -
SP4: - - - -
SP5: - - - -
SP8: -

Relevant External Links for HADHB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HADHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HADHB Gene

mRNA differential expression in normal tissues according to GTEx for HADHB Gene

This gene is overexpressed in Heart - Left Ventricle (x7.6) and Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for HADHB Gene

This gene is overexpressed in Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HADHB Gene

Protein tissue co-expression partners for HADHB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HADHB Gene:


SOURCE GeneReport for Unigene cluster for HADHB Gene:


Evidence on tissue expression from TISSUES for HADHB Gene

  • Nervous system(5)
  • Heart(4.9)
  • Intestine(4.8)
  • Liver(4.8)
  • Muscle(4.7)
  • Blood(4.5)
  • Kidney(4.5)
  • Stomach(4.3)
  • Lung(3)
  • Skin(2.6)
  • Eye(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HADHB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • heart
  • heart valve
  • lung
  • adrenal gland
  • kidney
  • liver
  • placenta
  • uterus
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HADHB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HADHB Gene

Orthologs for HADHB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HADHB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HADHB 34 33
  • 99.79 (n)
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
  • 91.47 (n)
-- 34
  • 65 (a)
(Bos Taurus)
Mammalia HADHB 34 33
  • 90.72 (n)
(Mus musculus)
Mammalia Hadhb 16 34 33
  • 88.94 (n)
(Rattus norvegicus)
Mammalia Hadhb 33
  • 88.65 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
-- 34
  • 88 (a)
(Monodelphis domestica)
Mammalia HADHB 34
  • 85 (a)
(Gallus gallus)
Aves HADHB 34 33
  • 74.79 (n)
(Anolis carolinensis)
Reptilia HADHB 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hadhb 33
  • 75.23 (n)
MGC75788 33
African clawed frog
(Xenopus laevis)
Amphibia thiolase-prov 33
(Danio rerio)
Actinopterygii hadhb 34 33
  • 71.22 (n)
wufb14g10 33
fruit fly
(Drosophila melanogaster)
Insecta Thiolase 34 35 33
  • 62.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011827 33
  • 62.9 (n)
(Caenorhabditis elegans)
Secernentea B0303.3 34 35 33
  • 62.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1756 34
  • 65 (a)
Cin.4219 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4219 33
Species where no ortholog for HADHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADHB Gene

Gene Tree for HADHB (if available)
Gene Tree for HADHB (if available)
Evolutionary constrained regions (ECRs) for HADHB: view image

Paralogs for HADHB Gene

Paralogs for HADHB Gene

(4) SIMAP similar genes for HADHB Gene using alignment to 8 proteins:

  • B4E2W0_HUMAN
  • B5MD38_HUMAN
  • C9JE81_HUMAN
  • C9K0M0_HUMAN
  • D6W539_HUMAN
  • F5GZQ3_HUMAN Pseudogenes for HADHB Gene

genes like me logo Genes that share paralogs with HADHB: view

Variants for HADHB Gene

Sequence variations from dbSNP and Humsavar for HADHB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1056389 benign, Mitochondrial trifunctional protein deficiency 26,280,007(+) T/C coding_sequence_variant, synonymous_variant
rs1056471 benign, Mitochondrial trifunctional protein deficiency 26,290,089(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057517430 likely-pathogenic, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 26,244,596(+) T/C upstream_transcript_variant
rs1064793144 benign, not-provided, not specified, not provided, Mitochondrial trifunctional protein deficiency 26,254,258(+) ACTA/ACTACTA 5_prime_UTR_variant, coding_sequence_variant, inframe_insertion
rs113112630 likely-pathogenic, Mitochondrial trifunctional protein deficiency 26,263,480(+) G/A splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for HADHB Gene

Variant ID Type Subtype PubMed ID
esv1501344 CNV insertion 17803354
esv2719825 CNV deletion 23290073
esv33316 CNV loss 17666407
esv3583674 CNV loss 25503493
nsv1138760 CNV deletion 24896259

Variation tolerance for HADHB Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HADHB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADHB Gene

Disorders for HADHB Gene

MalaCards: The human disease database

(10) MalaCards diseases for HADHB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HADHB in MalaCards View complete list of genes associated with diseases


  • Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]: A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {ECO:0000269 PubMed:12754706, ECO:0000269 PubMed:8651282, ECO:0000269 PubMed:9259266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HADHB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HADHB: view

No data available for Genatlas for HADHB Gene

Publications for HADHB Gene

  1. Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PMID: 9605857) Aoyama T … Fukushima Y (Cytogenetics and cell genetics 1997) 2 3 22 58
  2. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PMID: 9259266) Orii KE … Hashimoto T (Human molecular genetics 1997) 3 4 22 58
  3. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (PMID: 8651282) Ushikubo S … Hashimoto T (American journal of human genetics 1996) 3 4 22 58
  4. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PMID: 8163672) Kamijo T … Hashimoto T (The Journal of clinical investigation 1994) 3 4 22 58
  5. Human cytomegalovirus directly induces the antiviral protein viperin to enhance infectivity. (PMID: 21527675) Seo JY … Cresswell P (Science (New York, N.Y.) 2011) 3 4 58

Products for HADHB Gene

Sources for HADHB Gene

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