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HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit)

Identity

Alias_nameshydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
Alias_symbol (synonym)MTPB
Other aliasECHB
MSTP029
TP-BETA
HGNC (Hugo) HADHB
LocusID (NCBI) 3032
Atlas_Id 64160
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 26244748 and ends at 26290465 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BOLA2 (16p11.2) / HADHB (2p23.3)HADHB (2p23.3) / AHSA1 (14q24.3)HADHB (2p23.3) / RBKS (2p23.2)
RETSAT (2p11.2) / HADHB (2p23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HADHB   4803
Cards
Entrez_Gene (NCBI)HADHB  3032  hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
AliasesECHB; MSTP029; MTPB; TP-BETA
GeneCards (Weizmann)HADHB
Ensembl hg19 (Hinxton)ENSG00000138029 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138029 [Gene_View]  chr2:26244748-26290465 [Contig_View]  HADHB [Vega]
ICGC DataPortalENSG00000138029
TCGA cBioPortalHADHB
AceView (NCBI)HADHB
Genatlas (Paris)HADHB
WikiGenes3032
SOURCE (Princeton)HADHB
Genetics Home Reference (NIH)HADHB
Genomic and cartography
GoldenPath hg38 (UCSC)HADHB  -     chr2:26244748-26290465 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HADHB  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblHADHB - 2p23.3 [CytoView hg19]  HADHB - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIHADHB [Mapview hg19]  HADHB [Mapview hg38]
OMIM143450   609015   
Gene and transcription
Genbank (Entrez)AF113209 AK095278 AK130072 AK293142 AK302322
RefSeq transcript (Entrez)NM_000183 NM_001281512 NM_001281513
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HADHB
Cluster EST : UnigeneHs.515848 [ NCBI ]
CGAP (NCI)Hs.515848
Alternative Splicing GalleryENSG00000138029
Gene ExpressionHADHB [ NCBI-GEO ]   HADHB [ EBI - ARRAY_EXPRESS ]   HADHB [ SEEK ]   HADHB [ MEM ]
Gene Expression Viewer (FireBrowse)HADHB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3032
GTEX Portal (Tissue expression)HADHB
Human Protein AtlasENSG00000138029-HADHB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55084   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55084  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55084
Splice isoforms : SwissVarP55084
Catalytic activity : Enzyme2.3.1.16 [ Enzyme-Expasy ]   2.3.1.162.3.1.16 [ IntEnz-EBI ]   2.3.1.16 [ BRENDA ]   2.3.1.16 [ KEGG ]   
PhosPhoSitePlusP55084
Domaine pattern : Prosite (Expaxy)THIOLASE_1 (PS00098)    THIOLASE_2 (PS00737)    THIOLASE_3 (PS00099)   
Domains : Interpro (EBI)Thiolase    Thiolase-like    Thiolase_acyl_enz_int_AS    Thiolase_AS    Thiolase_C    Thiolase_CS    Thiolase_N   
Domain families : Pfam (Sanger)Thiolase_C (PF02803)    Thiolase_N (PF00108)   
Domain families : Pfam (NCBI)pfam02803    pfam00108   
Conserved Domain (NCBI)HADHB
DMDM Disease mutations3032
Blocks (Seattle)HADHB
SuperfamilyP55084
Human Protein Atlas [tissue]ENSG00000138029-HADHB [tissue]
Peptide AtlasP55084
HPRD00887
IPIIPI00022793   IPI01015627   IPI01018954   IPI00969375   IPI00383695   IPI00893108   IPI00893867   IPI00893587   
Protein Interaction databases
DIP (DOE-UCLA)P55084
IntAct (EBI)P55084
FunCoupENSG00000138029
BioGRIDHADHB
STRING (EMBL)HADHB
ZODIACHADHB
Ontologies - Pathways
QuickGOP55084
Ontology : AmiGORNA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acyltransferase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrial envelope  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial inner membrane  endoplasmic reticulum  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  cardiolipin acyl-chain remodeling  mitochondrial nucleoid  extracellular exosome  
Ontology : EGO-EBIRNA binding  3-hydroxyacyl-CoA dehydrogenase activity  acetyl-CoA C-acyltransferase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrial envelope  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial inner membrane  endoplasmic reticulum  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  cardiolipin acyl-chain remodeling  mitochondrial nucleoid  extracellular exosome  
Pathways : KEGGFatty acid elongation    Fatty acid degradation    Valine, leucine and isoleucine degradation   
NDEx NetworkHADHB
Atlas of Cancer Signalling NetworkHADHB
Wikipedia pathwaysHADHB
Orthology - Evolution
OrthoDB3032
GeneTree (enSembl)ENSG00000138029
Phylogenetic Trees/Animal Genes : TreeFamHADHB
HOVERGENP55084
HOGENOMP55084
Homologs : HomoloGeneHADHB
Homology/Alignments : Family Browser (UCSC)HADHB
Gene fusions - Rearrangements
Tumor Fusion PortalHADHB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHADHB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HADHB
dbVarHADHB
ClinVarHADHB
1000_GenomesHADHB 
Exome Variant ServerHADHB
ExAC (Exome Aggregation Consortium)ENSG00000138029
GNOMAD BrowserENSG00000138029
Genetic variants : HAPMAP3032
Genomic Variants (DGV)HADHB [DGVbeta]
DECIPHERHADHB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHADHB 
Mutations
ICGC Data PortalHADHB 
TCGA Data PortalHADHB 
Broad Tumor PortalHADHB
OASIS PortalHADHB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHADHB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHADHB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HADHB
DgiDB (Drug Gene Interaction Database)HADHB
DoCM (Curated mutations)HADHB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HADHB (select a term)
intoGenHADHB
Cancer3DHADHB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143450    609015   
Orphanet3294   
DisGeNETHADHB
MedgenHADHB
Genetic Testing Registry HADHB
NextProtP55084 [Medical]
TSGene3032
GENETestsHADHB
Target ValidationHADHB
Huge Navigator HADHB [HugePedia]
snp3D : Map Gene to Disease3032
BioCentury BCIQHADHB
ClinGenHADHB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3032
Chemical/Pharm GKB GenePA29177
Clinical trialHADHB
Miscellaneous
canSAR (ICR)HADHB (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHADHB
EVEXHADHB
GoPubMedHADHB
iHOPHADHB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:04:40 CET 2017

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