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... See more...

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
  • Trifunctional Enzyme Subunit Beta, Mitochondrial 3 4
  • 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
  • Acetyl-CoA Acyltransferase 3
  • Beta-Ketothiolase 3
  • EC 2.3.1.16 52
  • EC 2.3.1 52
  • 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 Valine, leucine and isoleucine degradation and Mitochondrial LC-Fatty Acid Beta-Oxidation. 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.

UniProtKB/Swiss-Prot Summary for HADHB Gene

  • Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536).

Gene Wiki entry for HADHB Gene

Additional gene information for HADHB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
Score
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 CraniofacialAtlas dbSUPER 500.7 +1.6 1631 5.6 EP300 ZNF217 SIN3A NRF1 TCF12 USF1 POLR2G NCOR1 PHF8 CTCF HADHA HADHB CAD GAREM2 piR-33614-145
GH02J026240 Promoter/Enhancer 0.9 Ensembl ENCODE 508 -2.0 -1960 1.2 TBP SPI1 EHMT2 RXRA HNF4A PPARG ZNF362 ZBTB33 RXRB ATF3 HADHB HADHA GAREM2 lnc-ADGRF3-2
GH02J026298 Promoter/Enhancer 2 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 21.4 +56.6 56643 3.4 SAP30 RFX1 KMT2B IRF1 SAP130 MXD4 IRF2 ESR1 BATF ZNF335 ENSG00000286707 LOC105374334 SELENOI HADHB HADHA TMEM214 ADGRF3 CAD ATRAID RPS2P15
GH02J026292 Enhancer 0.8 ENCODE dbSUPER 22.8 +49.7 49681 1 ZSCAN9 FOS ZFHX2 STAT3 MYC FOSL2 EGR1 ATF4 RFX5 GATA3 HADHA HADHB ADGRF3 piR-57133-327 ENSG00000286707
GH02J026184 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10.4 -57.9 -57860 2.2 HNRNPK CTCF SIN3A TCF12 NRF1 ZBTB11 GABPA TARDBP REST MYC SELENOI KIF3C ADGRF3 HADHA HADHB GAREM2 NONHSAG027276.2
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HADHB

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

Genomic Locations for HADHB Gene

Genomic Locations for HADHB Gene
chr2:26,243,170-26,290,465
(GRCh38/hg38)
Size:
47,296 bases
Orientation:
Plus strand
chr2:26,466,038-26,513,336
(GRCh37/hg19)
Size:
47,299 bases
Orientation:
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:
    P55084-ECHB_HUMAN
    Recommended name:
    Trifunctional enzyme subunit beta, mitochondrial
    Protein Accession:
    P55084
    Secondary Accessions:
    • B2RB16
    • B4E2W0
    • O14969
    • Q53TA6
    • Q96C77
    • Q9H3F5
    • Q9T2V8

    Protein attributes for HADHB Gene

    Size:
    474 amino acids
    Molecular mass:
    51294 Da
    Quaternary structure:
    • Heterotetramer of 2 alpha/HADHA and 2 beta/HADHB subunits; forms the mitochondrial trifunctional enzyme (PubMed:29915090, PubMed:30850536). Also purified as higher order heterooligomers including a 4 alpha/HADHA and 4 beta/HADHB heterooligomer which physiological significance remains unclear (PubMed:8163672, PubMed:29915090). Interacts with RSAD2/viperin (PubMed:21527675).
    SequenceCaution:
    • Sequence=BAA22061.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HADHB Gene

    Alternative splice isoforms for HADHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADHB Gene

Selected DME Specific Peptides for HADHB Gene

P55084:
  • AGLTMNDID
  • DNGIRPSSL
  • YALRSHSLAKKAQDEG
  • FEFHEAFSGQILAN
  • GLLHRTSVPK
  • DGASAML
  • RPLSCSSQ
  • ALAMGYKPKAYLRDF
  • APAVQTK
  • WGGSLSLGHPFGATGCRLVMAAANRLRK
  • LTDGASA
  • GTVTAAN
  • VVVDGVRTPFLLSGTSYKDLMPHDLARAAL

Post-translational modifications for HADHB Gene

  • Ubiquitination at Lys72 and Lys268
  • Modification sites at PhosphoSitePlus

Domains & Families for HADHB Gene

Gene Families for HADHB Gene

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

Protein Domains for HADHB Gene

Blocks:
  • Thiolase
  • Regulator of chromosome condensation, RCC1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HADHB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56214, highly similar to Trifunctional enzyme subunit beta, mitochondrial (B4E2W0_HUMAN)
  • Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (Trifunctional protein), beta subunit, isoform CRA_b (D6W539_HUMAN)
  • TP-beta (ECHB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55084

UniProtKB/Swiss-Prot:

ECHB_HUMAN :
  • Belongs to the thiolase-like superfamily. Thiolase family.
Family:
  • Belongs to the thiolase-like superfamily. 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 Function:
Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:8135828, PubMed:29915090, PubMed:30850536). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids (PubMed:30850536). Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3-ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA; Xref=Rhea:RHEA:21564, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:58342, ChEBI:CHEBI:90726; EC=2.3.1.16; Evidence={ECO:0000269 PubMed:7958339, ECO:0000269 PubMed:8135828, ECO:0000269 PubMed:8163672, ECO:0000269 PubMed:8651282}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21566; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + butanoyl-CoA = 3-oxohexanoyl-CoA + CoA; Xref=Rhea:RHEA:31111, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57371, ChEBI:CHEBI:62418; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31113; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + hexanoyl-CoA = 3-oxooctanoyl-CoA + CoA; Xref=Rhea:RHEA:31203, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:62619, ChEBI:CHEBI:62620; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31205; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + octanoyl-CoA = 3-oxodecanoyl-CoA + CoA; Xref=Rhea:RHEA:31087, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57386, ChEBI:CHEBI:62548; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31089; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + decanoyl-CoA = 3-oxododecanoyl-CoA + CoA; Xref=Rhea:RHEA:31183, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61430, ChEBI:CHEBI:62615; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31185; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + dodecanoyl-CoA = 3-oxotetradecanoyl-CoA + CoA; Xref=Rhea:RHEA:31091, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57375, ChEBI:CHEBI:62543; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31093; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA; Xref=Rhea:RHEA:18161, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57349, ChEBI:CHEBI:57385; EC=2.3.1.155; Evidence={ECO:0000269 PubMed:1550553, ECO:0000269 PubMed:7958339, ECO:0000269 PubMed:8135828, ECO:0000269 PubMed:8163672, ECO:0000269 PubMed:8651282}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:18163; Evidence=. ;.
GENATLAS Biochemistry:
mitochondrial,membrane bound fatty acid beta-oxidation trifunctional enzyme,beta subunit,harboring the long chain 3-oxoacyl-CoA thiolase

Enzyme Numbers (IUBMB) for HADHB Gene

Phenotypes From GWAS Catalog for HADHB Gene

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 21873635
GO:0004300 enoyl-CoA hydratase activity TAS,IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADHB

Clone Products

No data available for 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. Note=Protein stability and association with membranes require HADHA. {ECO:0000269 PubMed:29915090}.

Subcellular locations from

COMPARTMENTS
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
mitochondrion 5
endoplasmic reticulum 5
nucleus 3
plasma membrane 2
extracellular 2
peroxisome 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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 IBA,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 --
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

(18) 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
(2E)-Decenoyl-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
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-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-)
4460-95-1
(2E)-Octenoyl-CoA
  • (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
10018-94-7
genes like me logo Genes that share compounds with HADHB: view

Transcripts for HADHB Gene

mRNA/cDNA for HADHB Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADHB

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: -
SP3:
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8: -

Relevant External Links for HADHB Gene

GeneLoc Exon Structure for
HADHB

Expression for HADHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HADHB

SOURCE GeneReport for Unigene cluster for HADHB Gene:

Hs.515848

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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
Pelvis:
  • placenta
  • uterus
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia HADHB 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 94 (a)
OneToMany
HADHB 30
  • 91.47 (n)
-- 31
  • 65 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HADHB 31 30
  • 90.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hadhb 17 31 30
  • 88.94 (n)
rat
(Rattus norvegicus)
Mammalia Hadhb 30
  • 88.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HADHB 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves HADHB 31 30
  • 74.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HADHB 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hadhb 30
  • 75.23 (n)
MGC75788 30
African clawed frog
(Xenopus laevis)
Amphibia thiolase-prov 30
zebrafish
(Danio rerio)
Actinopterygii hadhb 31 30
  • 71.22 (n)
OneToOne
wufb14g10 30
fruit fly
(Drosophila melanogaster)
Insecta Thiolase 31 32 30
  • 62.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011827 30
  • 62.9 (n)
worm
(Caenorhabditis elegans)
Secernentea B0303.3 31 32 30
  • 62.46 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1756 31
  • 65 (a)
OneToOne
Cin.4219 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4219 30
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

ENSEMBL:
Gene Tree for HADHB (if available)
TreeFam:
Gene Tree for HADHB (if available)
Aminode:
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:

  • ECHB_HUMAN
  • B4E2W0_HUMAN
  • B5MD38_HUMAN
  • C9JE81_HUMAN
  • C9JEY0_HUMAN
  • C9K0M0_HUMAN
  • D6W539_HUMAN
  • F5GZQ3_HUMAN

Pseudogenes.org Pseudogenes for HADHB Gene

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

Variants for HADHB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HADHB Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
643838 Likely Pathogenic: Mitochondrial trifunctional protein deficiency 26,279,133(+) A/C SPLICE_ACCEPTOR_VARIANT
664748 Uncertain Significance: Mitochondrial trifunctional protein deficiency 26,279,258(+) G/A MISSENSE_VARIANT
668558 Likely Benign: not provided 26,282,576(+) T/G INTRON_VARIANT
668559 Benign: not provided 26,285,847(+) C/T INTRON_VARIANT
675558 Likely Benign: not provided 26,284,322(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HADHB Gene

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)
HADHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HADHB

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

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

Disorder Aliases PubMed IDs
mitochondrial trifunctional protein deficiency
  • abetalipoproteinemia
peroxisomal disease
  • peroxisomal disorder
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
hypoglycemia
  • hypoglycaemia
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
- elite association - COSMIC cancer census association via MalaCards
Search HADHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHB_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. 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 23 54
  2. 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 23 54
  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 23 54
  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 23 54
  5. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. (PMID: 1550553) Carpenter K … Middleton B (Biochemical and biophysical research communications 1992) 3 4 23 54

Products for HADHB Gene

  • Signalway ELISA kits for HADHB
  • Signalway Proteins for HADHB

Sources for HADHB Gene