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HADHB Gene

protein-coding   GIFtS: 59

GC02P026213
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for HADHB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase
(trifunctional protein), beta subunit1 2
     beta-ketothiolase2
hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A
thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit1 2
     ECHB2
MTPB1 2     2-enoyl-Coenzyme A (CoA) hydratase, beta subunit2
mitochondrial trifunctional enzyme, beta subunit2     trifunctional enzyme subunit beta, mitochondrial2
MGC874802     TP-BETA2
hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit2     mitochondrial trifunctional protein, beta subunit2
3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein,
beta subunit2
     TP-beta3
acetyl-CoA acyltransferase2     

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

Export aliases for HADHB gene to outside databases

Previous GC identifers: GC02P026389 GC02P026560 GC02P026442 GC02P026379 GC02P026321 GC02P026466


Summaries
for HADHB gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)


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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HADHB gene promoter:
         HNF-4alpha2   p53   COUP-TF1   PPAR-gamma1   PPAR-gamma2   Bach1   POU3F1   HOXA9B   Meis-1   Chx10   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HADHB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026213:  view genomic region     (about GC identifiers)

Start:
 26,213,206 bp from pter
End:
 26,249,388 bp from pter
Size:
 36,183 bases
Orientation:
 plus strand

1 alternative location:
Chr2+ 26,466,038-26,513,336     
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  

Proteins
for HADHB gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
Subcellular location: Mitochondrion
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 phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000174.1  

    ENSEMBL proteins: 
    ENSP00000413103 ENSP00000404633 ENSP00000325136 ENSP00000385411 ENSP00000415300 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: HADHB
    GenScript Custom Purified and Recombinant Proteins Services for HADHB 
    Novus Biologicals Proteins for HADHB
    Novus Biologicals Lysates for HADHB
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion NAS7958339
    GO:0005740 mitochondrial envelope TAS1550553
    GO:0005743 mitochondrial inner membrane IEA--
    GO:0005759 mitochondrial matrix EXP1550553
    GO:0016507 fatty acid beta-oxidation multienzyme complex IEA--
    About this table

    HADHB for ontologies           About GeneDecksing



    Antibodies for HADHB: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HADHB
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for HADHB 
    Novus Biologicals Antibodies for HADHB
    Epitomics antibodies for HADHB

    Assays for HADHB: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HADHB 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 

    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


    Gene Function
    for HADHB gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

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

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HADHB
    Sigma-Aldrich shRNA for HADHB
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): HADHB
    OriGene shRNA RFP (see all 2): HADHB
    OriGene basic RS shRNA (see all 2): HADHB
    OriGene siRNA: HADHB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HADHB 
    miRNA:Sigma-Aldrich microRNA Mimics for HADHB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HADHB 
    4 SABiosciences Assays for microRNAs that regulate HADHB:
    hsa-miR-203 hsa-miR-33b hsa-miR-1256 hsa-miR-33a

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HADHB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HADHB
    OriGene untagged cDNA clones in CMV expression vector (see all 2): HADHB
    OriGene 3'-UTR clone: HADHB 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for HADHB 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for HADHB 

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062 acyl-CoA binding IEA--
    GO:0003824 catalytic activity ----
    GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IEA--
    GO:0003988 acetyl-CoA C-acyltransferase activity IEA--
    GO:0004300 enoyl-CoA hydratase activity IEA--
    About this table

    HADHB for ontologies           About GeneDecksing

    Animal Models: 7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hadhb):

    adipose tissuecardiovascular systemgrowth/sizehomeostasis/metabolismlife span-post-weaning/aging
    liver/biliary systemmuscle

    HADHB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HADHB gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    HADHB for pathways           About GeneDecksing

    5/11 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  HADHB (see all 11)
        Bile Acid Biosynthesis
    Propanoate Metabolism
    Fatty Acid Metabolism
    Butanoate Metabolism
    Pyruvate Metabolism

    5 Kegg Pathways  (Kegg details for HADHB):
        hsa00062 Fatty acid elongation in mitochondria
    hsa00071 Fatty acid metabolism
    hsa00280 Valine, leucine and isoleucine degradation
    hsa01100 Metabolic pathways
    hsa01120 Microbial metabolism in diverse environments

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

        SABiosciences Pathway-Focused PCR Array including HADHB: PAHS-3401A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HADHB
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HADHB

    3 Interacting proteins for HADHB (P550842) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132332MINT-48305
    NFKB2Q006532MINT-48725
    RIPK2O433532MINT-49063
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629 lipid metabolic process ----
    GO:0006631 fatty acid metabolic process IEA--
    GO:0006635 fatty acid beta-oxidation TAS--
    GO:0008152 metabolic process ----
    GO:0044255 cellular lipid metabolic process TAS--
    About this table

    HADHB for ontologies           About GeneDecksing



    Drugs & Compounds
    for HADHB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    HADHB for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HADHB
    10/29 Novoseek chemical compound relationships for HADHB gene (see all 29)
    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)
    About this table



    Transcripts
    for HADHB gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HADHB
    Sigma-Aldrich shRNA for HADHB
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): HADHB
    OriGene shRNA RFP (see all 2): HADHB
    OriGene basic RS shRNA (see all 2): HADHB
    OriGene siRNA: HADHB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HADHB 
    miRNA: Sigma-Aldrich microRNA Mimics for HADHB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HADHB 
    4 SABiosciences Assays for microRNAs that regulate HADHB:
    hsa-miR-203 hsa-miR-33b hsa-miR-1256 hsa-miR-33a
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HADHB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HADHB
    OriGene untagged cDNA clones in CMV expression vector (see all 2): HADHB
    OriGene 3'-UTR Clone: HADHB 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for HADHB 
    Primers: OriGene genome-wide validated SYBR primer pairs: HADHB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HADHB: PPH15404A

    REFSEQ mRNAs for HADHB gene: 

    NM_000183.2  

    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 CR596000.1 CR596672.1 CR597780.1 CR598353.1 CR599982.1 
    CR608278.1 CR609244.1 CR626668.1 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.86854232  DT.40116689  DT.422212  DT.100736320  DT.91765294 

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

    BM473014 CR597780 D16481 AU133715 BU172467 CR608278 BM737734 BP357486 
    CR626668 BX439508 CB128235 AA054829 AL531195 BM759489 NM_000183 BP340775 
    CD515913 CR598353 CR596672 CB161327 BP379456 AL552314 CF552964 AU107199 

    highest scoring ESTs for HADHB:

    AI150369 D16481 AA001261 AA002265 AA025469 AA026813 AA036645 AA040188 AA041355 AA043493 

    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


    GeneLoc Exon Structure

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

    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:                          -           -                 -     -                                                                           

    About this scheme

    ECgene alternative splicing isoforms for HADHB
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494615 ENST00000412805 ENST00000425035 ENST00000317799(uc010yku.1 uc002rgz.2 uc010ykv.1 uc010ykw.1 uc002rha.2 uc010ykx.1)
    ENST00000479347 ENST00000405867 ENST00000448743

    Expression
    for HADHB gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    HADHB expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching HADHB gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    39741_at2, 3 U95-A 1 1.00 1.00 0.94 0.99 D16481 1.00 1.00 1.00 1
    74819_at2, 3 U95-D 1 0.94 1.00 0.97 1.02 AI150369 1.00 1.00 1.00 1
    201007_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000183 0.60 1.00 0.82 1
    201007_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    HADHB for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    HADHB gene expression
    HADHB gene electronic northern expression
    HADHB gene sage expression
    About these images

    CGAP SAGE TAG: AGATGTGTGG

    SOURCE GeneReport for Unigene cluster: Hs.515848

    Expression variation in blood from EXPOLDB for HADHB

    Primers: OriGene genome-wide validated SYBR primer pairs: HADHB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HADHB: PPH15404A
        SABiosciences Expression via Pathway-Focused PCR Array including HADHB: PAHS-3401A 


    Orthologs
    for HADHB gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for HADHB gene from 5/13 species (see all 13)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 HADHB1   -- hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 91.47(n)
    94.29(a)    		 607926  XM_844603.1  XP_849696.1 
    chimpanzee
    (Pan troglodytes)    		 HADHB1   -- hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 99.79(n)
    100(a)    		 459080  NM_001034119.1  NP_001029291.1 
    cow
    (Bos taurus)    		 HADHB1   -- hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 90.72(n)
    91.98(a)    		 281811  NM_174336.3  NP_776761.1 
    rat
    (Rattus norvegicus)    		 Hadhb1   -- hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more 88.65(n)
    89.85(a)    		 171155  NM_133618.1  NP_598302.1 
    mouse
    (Mus musculus)    		 Hadhb1 , 5 5 (16.04 cM)5
    		 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more1, 5 88.94(n)1
    91.12(a)1    		 2310861  NM_145558.11  NP_663533.11 
     AA2081085  AK0334625  (see all 19)
    About this table        Species with no ortholog for HADHB

    ENSEMBL Gene Tree for HADHB (if available)

    Paralogs
    for HADHB gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for HADHB gene
    ACAT12  ACAA22  ACAT22  

    HADHB for paralogs           About GeneDecksing


    Pseudogenes
    1 related pseudogene



    Genomic Variants
    for HADHB gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/467 NCBI SNPs in HADHB are shown (see all 467)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs10563891,2
    		C,F,26502875(+) ACAGTT/CACCAA 2 /V syn1 ref112Minor allele frequency- C:0.14NA MN NS EA 908
    rs10564711,2
    		C,F,A,H,26512957(+) AAATAC/GTTTGC 1 -- ut3121Minor allele frequency- G:0.34NA MN NS EA WA 1232
    rs10566011,2
    		H26513258(+) TAAACA/CCCACT 1 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs10566031,2
    		H26513261(+) ACACCA/CCTGAA 1 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs10566321,2
    		C,F,O,H,26512733(+) TGTACT/GAGGTG 1 -- int112Minor allele frequency- G:0.14MN NS EA NA 908
    rs14695231,2
    		C,F,26474631(-) AAAAAA/TACAAA 1 -- int1 trp313Minor allele frequency- T:0.14NA NS EA 714
    rs18049121,2
    		--26512914(+) TTCCTA/TGCTCC 1 -- ut310--------
    rs19665981,2
    		--26476455(-) gcgtgA/Cgtacc 1 -- int10--------
    rs20333171,2
    		C,F,A,H,26477650(-) ATTCAC/TCTCCA 1 -- int119Minor allele frequency- T:0.16NS EA NA WA 1210
    rs23038931,2
    		C,F,O,H,26507076(+) CGGTAT/AGTAAT 1 -- int114Minor allele frequency- A:0.38EA NA NS 2604
    About this table

    HapMap Linkage Disequilibrium images for HADHB (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HADHB
         1 CNV: 7261

    QIAGEN SeqTarget long-range PCR primers for resequencing HADHB 

    Disorders & Mutations
    for HADHB gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HADHB for disorders           About GeneDecksing

    OMIM: 143450   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

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

    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)
    About this table

    Human Gene Mutation Database (HGMD): HADHB
    Human Genome Epidemiology (HuGE) Navigator: HADHB (1 document)

    Export disorders and mutations for HADHB gene to outside databases

    Medical News
    for HADHB gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for HADHB gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/137 PubMed articles for HADHB gene, integrated from 7 sources (see all 137):
    (articles sorted by number of sources associating them with HADHB)
    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, 7 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, 7 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, 7 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, 7 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
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    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    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 XenneX, 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

    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

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     Regulatory tfbs in HADHB promoter
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