Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3032
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HADHB
Synonyms (NCBI Gene) Gene synonyms aliases
ECHB, MSTP029, MTPB, MTPD, MTPD2, TP-BETA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MTPD2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez 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 fou
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113112630 G>A Likely-pathogenic Splice donor variant
rs121913131 A>G Pathogenic Coding sequence variant, missense variant
rs121913132 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121913133 G>A,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121913134 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016498 hsa-miR-193b-3p Proteomics 21512034
MIRT002711 hsa-miR-124-3p Proteomics 18668037
MIRT002711 hsa-miR-124-3p Microarray 15685193
MIRT048639 hsa-miR-99a-5p CLASH 23622248
MIRT036297 hsa-miR-1229-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003857 Function 3-hydroxyacyl-CoA dehydrogenase activity TAS 1550553
GO:0003988 Function Acetyl-CoA C-acyltransferase activity IEA
GO:0004300 Function Enoyl-CoA hydratase activity TAS 1550553
GO:0005515 Function Protein binding IPI 20562859, 21527675, 28514442, 29915090
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
143450 4803 ENSG00000138029
Protein
UniProt ID P55084
Protein name Trifunctional enzyme subunit beta, mitochondrial (TP-beta) [Includes: 3-ketoacyl-CoA thiolase (EC 2.3.1.155) (EC 2.3.1.16) (Acetyl-CoA acyltransferase) (Beta-ketothiolase)]
Protein function Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:29915090, PubMed:30850536, PubMed:8135828). The mitochondrial beta-oxidation pathway is the major energy-produc
PDB 5ZQZ , 5ZRV , 6DV2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00108 Thiolase_N 54 324 Thiolase, N-terminal domain Domain
PF02803 Thiolase_C 331 471 Thiolase, C-terminal domain Domain
Sequence
Sequence length 474
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid elongation
Fatty acid degradation
Valine, leucine and isoleucine degradation
Metabolic pathways
Fatty acid metabolism
  Acyl chain remodeling of CL
Beta oxidation of myristoyl-CoA to lauroyl-CoA
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Beta oxidation of palmitoyl-CoA to myristoyl-CoA
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
Beta oxidation of octanoyl-CoA to hexanoyl-CoA
Beta oxidation of hexanoyl-CoA to butanoyl-CoA
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21466612
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21466612
Cardiomyopathy Cardiomyopathy, Dilated, Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 22375075
Cardiomyopathies Associate 24314034
Carnitine Palmitoyltransferase II Deficiency Infantile Associate 24314034
Charcot Marie Tooth Disease Associate 24314034
Colorectal Neoplasms Inhibit 29507648
Colorectal Neoplasms Associate 33048115
Hereditary Sensory and Autonomic Neuropathies Associate 24314034
Jaundice Neonatal Associate 33860293
Myoglobinuria Associate 24314034
Neoplasms Associate 26296974, 28108419, 28890397