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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HADHB Gene

protein-coding   GIFtS: 63
GCID: GC02P026466

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA...

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme...)
 Explore 32 diseases affiliated with
HADHB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HADHB    

Aliases
for HADHB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase
(Trifunctional Protein), Beta Subunit1 2
     Beta-Ketothiolase1
MTPB1 2     Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase, Beta Subunit2
Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A
Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit1 2
     Mitochondrial Trifunctional Enzyme, Beta Subunit2
2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit2     Mitochondrial Trifunctional Protein, Beta Subunit2
3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional Protein,
Beta Subunit2
     Trifunctional Enzyme Subunit Beta, Mitochondrial2
ECHB2     TP-Beta1
TP-BETA2     EC 2.3.18
Acetyl-CoA Acyltransferase2     EC 2.3.1.168

External Ids:    HGNC: 48031   Entrez Gene: 30322   Ensembl: ENSG000001380297   OMIM: 1434505   UniProtKB: P550843   

Export aliases for HADHB gene to outside databases

Previous GC identifers: GC02P026389 GC02P026560 GC02P026442 GC02P026379 GC02P026321 GC02P026213


Summaries
for HADHB gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HADHB:
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. Mutations in
this gene result in trifunctional protein deficiency. 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. Alternatively spliced transcript
variants have been found; however, their full-length nature is not known. (provided by RefSeq, Jul 2008)

Gene Wiki entry for HADHB


Genomic Views
for HADHB gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HADHB gene promoter:
         SRF   GR   Egr-3   SRF (504 AA)   STAT5A   GATA-2   Egr-4   HNF-1A   HNF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HADHB promoter sequence
   Search SABiosciences Chromatin IP Primers for HADHB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HADHB


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

Entrez Gene cytogenetic band: 2p23   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026466:  view genomic region     (about GC identifiers)

Start:
 26,466,038 bp from pter      End:
 26,513,336 bp from pter
Size:
 47,299 bases      Orientation:
 plus strand

Proteins
for HADHB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084 (See protein sequence)
Recommended Name: Trifunctional enzyme subunit beta, mitochondrial precursor  
Size: 474 amino acids; 51294 Da
Subunit: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin
Subcellular location: Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic reticulum
Sequence caution: Sequence=BAA22061.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RB16 O14969 Q53TA6 Q96C77 Q9H3F5 Q9T2V8

Explore the universe of human proteins at neXtProt for HADHB: NX_P55084

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55084

    • 4/13 DME Specific Peptides for HADHB (P55084) (see all 13)
     LTDGASA  GTVTAAN  APAVQTK  DGASAML 

    HADHB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000174.1  
    ENSEMBL proteins: 
     ENSP00000415300   ENSP00000325136   ENSP00000385411   ENSP00000404633   ENSP00000413103  
     ENSP00000444295   ENSP00000442665  
    Reactome Protein details: P55084
    Human Recombinant Protein Products: 
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    Novus Biologicals HADHB Proteins
    Novus Biologicals HADHB Lysates
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS7958339
    GO:0005740mitochondrial envelope TAS1550553
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005759mitochondrial matrix ----


    HADHB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HADHB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HADHB for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR020610 Thiolase_AS
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR020615 Thiolase_acyl_enz_int_AS
     IPR002155 Thiolase

    Graphical View of Domain Structure for InterPro Entry P55084

    ProtoNet protein and cluster: P55084

    2 Blocks protein families:
    IPB000408 Regulator of chromosome condensation
    IPB002155 Thiolase


    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
    Similarity: Belongs to the thiolase family


    Function
    for HADHB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
    Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA

         Genatlas biochemistry entry for HADHB:
    mitochondrial,membrane bound fatty acid beta-oxidation trifunctional enzyme,beta subunit,harboring the long chain
    3-oxoacyl-CoA thiolase

    Enzyme Numbers (IUBMB): EC 2.3.12 EC 2.3.1.162

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADHB
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HADHB (see all 11):
    hsa-miR-3685 hsa-miR-203 hsa-miR-4317 hsa-miR-520d-5p hsa-miR-605 hsa-miR-33a hsa-miR-670 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmid: HADHB 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HADHB (see all 7)
    OriGene shRNA RFP: HADHB
    Browse OriGene siRNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HADHB

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADHB (see all 3)
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    GenScript: all cDNA clones in your preferred vector: HADHB (NM_000183)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHB 

    Cell Line
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    Search LifeMap BioReagents cell lines for HADHB

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHB

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity IEA--
    GO:0003988acetyl-CoA C-acyltransferase activity IEA--
    GO:0004300enoyl-CoA hydratase activity IEA--
    GO:0005515protein binding IPI--


    HADHB for ontologies           About GeneDecksing


    Animal Models:
         7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hadhb):
     adipose tissue  cardiovascular system  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle 

    HADHB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HADHB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    8/12 pathways (see all 12)
    		Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA1.00
    		Removal of six carbons from Linoleoyl-CoA to form cis,cis-3,6- Dodecadienoyl-CoA0.60
    		Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.67
    		Beta oxidation of myristoyl-CoA to lauroyl-CoA0.60
    		Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA0.67
    		Fatty acid elongation in mitochondria0.44
    		Beta oxidation of octanoyl-CoA to hexanoyl-CoA0.67
    		mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.38
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Glycerophospholipid biosynthesis
    		Glycerophospholipid biosynthesis1.00
    		Phospholipid metabolism0.64
    4ketolysis
    		ketolysis1.00
    		ketogenesis0.57
    5tryptophan degradation III (eukaryotic)
    		tryptophan degradation III (eukaryotic)1.00
    		glutaryl-CoA degradation0.45

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/11 BioSystems Pathways for HADHB (see all 11) 
        SIDS Susceptibility Pathways
    isoleucine degradation I
    fatty acid beta-oxidation I
    ketolysis
    Fatty Acid Beta Oxidation

    5/17        Reactome Pathways for HADHB (see all 17)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids


    4         Kegg Pathways  (Kegg details for HADHB):
        Fatty acid elongation in mitochondria
    Fatty acid metabolism
    Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    HADHB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HADHB

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

    5/86 Interacting proteins for HADHB (P550841, 2, 3 ENSP000003251364) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271190 I2D: score=2 
    SMN2Q166372, 3MINT-8271190 I2D: score=2 
    GABARAPL1Q9H0R81, 3EBI-2948478,EBI-3240381 I2D: score=3 
    ANXA7P200732, 3MINT-8248439 I2D: score=2 
    CDKN1AP389362, 3MINT-8251948 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006644phospholipid metabolic process TAS--
    GO:0035965cardiolipin acyl-chain remodeling TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    HADHB for ontologies           About GeneDecksing



    Drugs & Compounds
    for HADHB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HADHB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HADHB

    10/58 HMDB Compounds for HADHB (see all 58)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----
    2-Methylacetoacetyl-CoA2-Methyl-3-acetoacetyl-CoA (see all 10)6712-01-2--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    10/29 Novoseek chemical compound relationships for HADHB gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-ketopalmitoyl-coa 90.7 1 11356167 (1)
    i-bop 86.5 3 11055976 (3)
    thromboxane a2 84.3 25 17630727 (2), 11901221 (2), 15134434 (2), 10827090 (1) (see all 20)
    trimetazidine 81.1 8 11286307 (1), 15074774 (1), 14606990 (1), 15074776 (1) (see all 7)
    acyl-coa 78.6 20 9857175 (2), 1586963 (1), 7822275 (1), 16428307 (1) (see all 17)
    lignoceric acid 77.4 2 1680308 (1)
    thromboxane 75.7 18 16499875 (1), 12726995 (1), 16156795 (1), 18502100 (1) (see all 7)
    u46619 65.9 1 9694965 (1)
    acetoacetyl coa 63.5 2 18958860 (1), 7748356 (1)
    fatty acid 63.3 13 2181395 (1), 1331693 (1), 9605857 (1), 18690865 (1) (see all 13)

    Search CenterWatch for drugs/clinical trials and news about HADHB / ECHB 

    Transcripts
    for HADHB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HADHB gene: 
    NM_000183.2  

    Unigene Cluster for HADHB:

    Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
    Hs.515848  [show with all ESTs]
    Unigene Representative Sequence: AK095278
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448743 ENST00000317799(uc010yku.1 uc002rgz.3 uc010ykv.2 uc010ykw.2 uc010ykx.2)
    ENST00000479347 ENST00000405867 ENST00000425035 ENST00000412805 ENST00000494615
    ENST00000537713 ENST00000545822

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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HADHB (see all 11):
    hsa-miR-3685 hsa-miR-203 hsa-miR-4317 hsa-miR-520d-5p hsa-miR-605 hsa-miR-33a hsa-miR-670 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmid: HADHB 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HADHB (see all 7)
    OriGene shRNA RFP: HADHB
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADHB

    Additional cDNA sequence: 

    AF113209.1 AK095278.1 AK130072.1 AK293142.1 AK302322.1 AK304455.1 AK314455.1 BC014572.1 
    BC017564.2 BC030824.1 BC066963.1 D16481.1 

    24/38 DOTS entries (see all 38):

    DT.101972334  DT.449472  DT.100877767  DT.120987071  DT.95353863  DT.95353875  DT.100877775  DT.97859955 
    DT.120986800  DT.120986743  DT.95229045  DT.91765288  DT.100877752  DT.120986801  DT.120986823  DT.120987088 
    DT.120987097  DT.120987083  DT.120987095  DT.86854232  DT.40116689  DT.422212  DT.100736320  DT.91765294 

    24/181 AceView cDNA sequences (see all 181):

    D16481 BX418605 AL545228 AI248438 AL599165 AL531195 AL557905 CR626668 
    BP340775 BP379456 CR609244 AL543521 AU140049 CB161327 AI039905 BM473014 
    AL583577 BM759489 AU133715 BU172467 BX439508 CR598353 AU136373 NM_000183 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HADHB (see all 8)    About this scheme

    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:                          -           -                 -     -                                                                           


    ECgene alternative splicing isoforms for HADHB

    Expression
    for HADHB gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HADHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGATGTGTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HADHB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HADHB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HADHB

    SOURCE GeneReport for Unigene cluster: Hs.515848
        SABiosciences Expression via Pathway-Focused PCR Arrays including HADHB: 
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HADHB
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HADHB
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADHB
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADHB
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHB

    Orthologs
    for HADHB gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for HADHB gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HADHB1 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA more 74.79(n)
    83.9(a)    		   421995  XM_420004.2  XP_420004.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HADHB6
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL344141.1(3222-20779)
    African clawed frog
    (Xenopus laevis)    		 Amphibia thiolase-prov2 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 77.2(n)    BC045222.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufb14g102 wufb14g10 76.99(n)   336606  BC046041.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Thiolase1 , 3 acetyl-CoA C-acyltransferase3
    CG4581-PA1    		 67(a)3
    62.99(n)1
    68.92(a)1    		   60A53
    377841  NM_058030.31  NP_477378.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea B0303.31 , 3 Acetyl-coa acetyltransferase3
    Protein B0303.31    		 61(a)3
    62.52(n)1
    61.98(a)1    		   III(8758365-8759884)3
    1762161  NM_066514.31  NP_498915.11 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria fadI6
    		 beta-ketoacyl-CoA thiolase, anaerobic, subunit
    		 40(a)
    		 1 ↔ 1
    		 Chromosome(2457181-2458491)


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

    Paralogs
    for HADHB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HADHB gene
    ACAA12  
    4 SIMAP similar genes for HADHB using alignment to 8 protein entries:     ECHB_HUMAN (see all proteins):
    ACAA1    ACAT1    ACAA2    ACAT2

    HADHB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HADHB
    PGOHUM00000241174


    Genomic Variants
    for HADHB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/785 NCBI SNPs in HADHB are shown (see all 785)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219131321,2
    		C,Fpathogenic26222415(+) TGTTCG/ACACTC 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs1152603091,2
    		C,F,--26208297(+) CTAGCT/GTTGTT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs776000481,2
    		C,--26208382(+) CTTGAG/TTGTTA 1 -- int10--------
    rs1118632611,2
    		C,--26208423(+) AGTGGT/-CAAGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs616028431,2
    		C,F,--26208775(+) GCATGC/TGCCAC 1 -- int14Minor allele frequency- T:0.29WA CSA 7
    rs1147974411,2
    		C,F,--26208999(+) TTACAA/GATATT 1 -- int11Minor allele frequency- G:0.05WA 118
    rs46658431,2
    		C,A--26209218(+) tgggaC/Ggccga 1 -- int10--------
    rs46658441,2
    		C,A--26209238(+) attacC/Ttgagg 1 -- int10--------
    rs46658451,2
    		C,A--26209244(+) tgaggC/Ttagga 1 -- int10--------
    rs46658461,2
    		C,A--26209246(+) aggctA/Gggagt 1 -- int10--------

    HapMap Linkage Disequilibrium report for HADHB (26466038 - 26513336 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HADHB
         1 CNV: 7261
    Human Gene Mutation Database (HGMD): HADHB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HADHB
    DNA2.0 Custom Variant and Variant Library Synthesis for HADHB

    Disorders / Diseases
    for HADHB gene

    (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.)
    About This Section
    HADHB for disorders           About GeneDecksing

    OMIM gene information: 143450   
    OMIM disorders: 609015  
    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
  • Defects in HADHB are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. The clinical
    • manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly
    hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss
    of all three enzyme activities of the TFP complex

    20/32 diseases for HADHB (see all 32):    About MalaCards
    trifunctional protein deficiency    3-hydroxyacyl-coenzyme a dehydrogenase deficiency    d-bifunctional protein deficiency    rhizomelic chondrodysplasia punctata type 1
    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    protein s deficiency    mitochondrial trifunctional protein deficiency
    spinal muscular atrophy    chondrodysplasia    infantile refsum disease    hyperinsulinemic hypoglycemia
    thiolase deficiency    refsum disease    abetalipoproteinemia    zellweger syndrome
    muscular atrophy    carnitine deficiency    ischemic heart disease    adrenoleukodystrophy

    10/13 Novoseek disease relationships for HADHB gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhizomelic chondrodysplasia punctata, type 1 85.8 2 11734571 (1), 15060085 (1)
    chondrodysplasia punctata rhizomelic 80.6 1 8059925 (1)
    d-bifunctional protein deficiency 79.4 4 11734571 (1), 15060085 (1)
    zellweger syndrome 76.7 1 8463903 (1)
    peroxisomal disorders 74.1 2 8463903 (1), 7510868 (1)
    protein deficiency 71.9 2 17143551 (1), 9259266 (1)
    abetalipoproteinemia 71.2 2 19699128 (2)
    erythroleukemia 56.1 2 16499875 (1), 16156795 (1)
    adrenoleukodystrophy 50.8 3 2049396 (1), 11734571 (1), 15060085 (1)
    enzyme deficiency 48.3 1 7510868 (1)

    Human Genome Epidemiology (HuGE) Navigator: HADHB (1 document)

    Export disorders for HADHB gene to outside databases

    Publications
    for HADHB gene

    (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)
    About This Section

    PubMed articles for HADHB gene, integrated from 9 sources (see all 157):
    (articles sorted by number of sources associating them with HADHB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9605857)1, 3, 9 Aoyama T....Fukushima Y. (1997)
    2. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PubMed id 9259266)1, 2, 9 Orii K.E.... Hashimoto T. (1997)
    3. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PubMed id 8163672)1, 2, 9 Kamijo T....Hashimoto T. (1994)
    4. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (PubMed id 8651282)1, 2, 9 Ushikubo S.... Hashimoto T. (1996)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (2004)
    8. 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. (2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    10. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PubMed id 12754706)1, 2 Spiekerkoetter U.... Strauss A.W. (2003)

    External Searches for HADHB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HADHB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3032 HGNC: 4803 AceView: HADHB Ensembl:ENSG00000138029 euGenes: HUgn3032
    ECgene: HADHB Kegg: 3032 H-InvDB: HADHB

    Other Databases showing HADHB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HADHB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HADHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADHB

    Intellectual Property
    for HADHB gene

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

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



    Products
    for HADHB gene

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    About This Section

     
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