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

HADHB Gene

protein-coding   GIFtS: 64
GCID: GC02P026466

Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA...

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA
Hydratase (Trifunctional Protein), Beta Subunit1 2
     TP-BETA2
Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A
Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit1 2
     Acetyl-CoA Acyltransferase2
Beta Subunit1     beta-ketothiolase2
Mitochondrial Trifunctional Protein1     Trifunctional Enzyme Subunit Beta, Mitochondrial2
2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit2     TP-beta3
3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional
Protein, Beta Subunit2
     EC 2.3.18
ECHB2     EC 2.3.1.168
MTPB2     

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


(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 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/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit) is a protein-coding gene. Diseases associated with HADHB include protein s deficiency, and mitochondrial trifunctional protein deficiency, and among its related super-pathways are Metabolic pathways and valine degradation I. GO annotations related to this gene include protein complex binding and fatty-acyl-CoA binding. An important paralog of this gene is ACAA1.

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  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 plasmidHADHB 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for HADHB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HADHB Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000174.1  NP_001268441.1  NP_001268442.1  

    ENSEMBL proteins: 
     ENSP00000415300   ENSP00000325136   ENSP00000385411   ENSP00000404633   ENSP00000413103  
     ENSP00000444295   ENSP00000442665  
    Reactome Protein details: P55084
    Human Recombinant Protein Products for HADHB: 
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    Novus Biologicals HADHB Proteins
    Novus Biologicals HADHB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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:0005783endoplasmic reticulum IDA--

    HADHB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (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 domains:
    IPB000408 Regulator of chromosome condensation
    IPB002155 Thiolase


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


    HADHB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003824catalytic activity ----
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity IEA--
    GO:0003988acetyl-CoA C-acyltransferase activity IEA--
    GO:0004300enoyl-CoA hydratase activity IEA--
         
    HADHB for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HADHB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HADHB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HADHB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HADHB 

    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 plasmidHADHB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHB
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                         Customized lentivirus expression plasmids for stable overexpression of HADHB 

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HADHB About   (see all 15)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Branched-chain amino acid catabolism
    isoleucine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    3Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    4Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.67
    Beta oxidation of myristoyl-CoA to lauroyl-CoA0.60
    Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA0.67
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    Beta oxidation of octanoyl-CoA to hexanoyl-CoA0.67
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.50
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.67
    Beta oxidation of palmitoyl-CoA to myristoyl-CoA0.50
    5superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.85
    mevalonate pathway I0.85

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/13 BioSystems Pathways for HADHB (see all 13)
        SIDS Susceptibility Pathways
    isoleucine degradation I
    glutaryl-CoA degradation
    Fatty Acid Beta Oxidation
    ketogenesis

    5/15        Reactome Pathways for HADHB (see all 15)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Phospholipid metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism


    4         Kegg Pathways  (Kegg details for HADHB):
        Fatty acid elongation
    Fatty acid degradation
    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)

    5/85 Interacting proteins for HADHB (P550841, 2, 3 ENSP000003251364) via UniProtKB, MINT, STRING, and/or I2D (see all 85)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271190 I2D: score=2 
    SMN2Q166372, 3MINT-8271190 I2D: score=2 
    GABARAPL1Q9H0R81, 3EBI-356635,EBI-746969 I2D: score=3 
    ANXA7P200732, 3MINT-8248439 I2D: score=2 
    CDKN1AP389362, 3MINT-8251948 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0035965cardiolipin acyl-chain remodeling TAS--
    GO:0044255cellular lipid metabolic process TAS--

    HADHB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HADHB (ECHB)

    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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HADHB gene (3 alternative transcripts): 
    NM_000183.2  NM_001281512.1  NM_001281513.1  

    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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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHB
    Sirion Biotech Customized lentivirus for stable overexpression of HADHB 
                         Customized lentivirus expression plasmids for stable overexpression of HADHB 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADHB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADHB

    Additional mRNA 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.120986800 
    DT.120986743  DT.97859955  DT.91765288  DT.95229045  DT.100877752  DT.120986801  DT.120986823  DT.120987088 
    DT.120987097  DT.120987083  DT.120987095  DT.40116689  DT.422212  DT.86854232  DT.100736320  DT.91765294 

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

    AL531195 AL557905 CD515913 BP340775 CR599982 CF552964 BX418605 CB161327 
    AL531387 BM737734 AU133715 AU140049 D16481 BM759489 BM473014 AL545228 
    AI248438 AU136373 AL583577 BP379456 CB128235 AA054829 AL599165 CR596672 

    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

    (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)      HADHB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGTGTGG
    HADHB Expression
    About this image


    HADHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Thoracic Perivascular Adipose
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)

    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

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    (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 common ancestor of animals and fungi.

    Orthologs for HADHB gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hadhb1 , 5 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more1, 5 88.94(n)1
    91.12(a)1
      5 (16.04 cM)5
    2310861  NM_145558.11  NP_663533.11 
     301552485 
    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
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL344141.1(3099-25240)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POT16
    3-ketoacyl-CoA thiolase with broad chain length sp...
    28(a)
    1 → many
    IX(40191-41444)


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

    (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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/960 SNPs in HADHB are shown (see all 960)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0074944
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0074942 R H mis40--------
    VAR_0211324
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211322 T P mis40--------
    VAR_0211284
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211282 G D mis40--------
    VAR_0174094
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0174092 R K mis40--------
    VAR_0211354
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211352 G D mis40--------
    VAR_0211314
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211312 L P mis40--------
    VAR_0211304
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211302 R G mis40--------
    VAR_0357054
    A breast cancer sample4--see VAR_0357052 A V mis40--------
    VAR_0074934
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0074932 R H mis40--------
    VAR_0211334
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211332 D G mis40--------

    HapMap Linkage Disequilibrium report for HADHB (26466038 - 26513336 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HADHB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2719825CNV Deletion23290073
    esv1501344CNV Insertion17803354
    esv267941CNV Insertion20981092
    esv273638CNV Insertion20981092
    esv33316CNV Loss17666407


    Human Gene Mutation Database (HGMD): HADHB
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HADHB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 143450   
    OMIM disorders: 609015  
    UniProtKB/Swiss-Prot: ECHB_HUMAN, P55084
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/27 diseases for HADHB (see all 27):    About MalaCards
    protein s deficiency    mitochondrial trifunctional protein deficiency    thiolase deficiency    3-hydroxyacyl-coenzyme a dehydrogenase deficiency
    rhizomelic chondrodysplasia punctata type 1    d-bifunctional protein deficiency    rhizomelic chondrodysplasia punctata    peroxisomal disease
    abetalipoproteinemia    peroxisome disorders    infantile refsum disease    refsum disease
    hyperinsulinemic hypoglycemia    chondrodysplasia    hypoglycemia    adrenoleukodystrophy
    zellweger syndrome    ischemic heart disease    spinal muscular atrophy    muscular atrophy


    HADHB for disorders           About GeneDecksing

    10/13 Novoseek inferred 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)

    Genetic Association Database (GAD): HADHB
    Human Genome Epidemiology (HuGE) Navigator: HADHB (1 document)

    Export disorders for HADHB gene to outside databases

    (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 165):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



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    About This Section

     
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