HTD2 (hydroxyacyl-thioester dehydratase type 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
109703458
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxyacyl-thioester dehydratase type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HTD2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved am
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005730 Component Nucleolus IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
620769 53111 ENSG00000255154
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P86397
Protein name Hydroxyacyl-thioester dehydratase type 2, mitochondrial (HsHTD2) (EC 4.2.1.59) (3-hydroxyacyl-[acyl-carrier-protein] dehydratase)
Protein function Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.
PDB 3IR3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01575 MaoC_dehydratas 32 → 152 MaoC like domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart and liver. Expressed at lower levels in skeletal muscle, spleen, kidney and placenta. {ECO:0000269|PubMed:17898086}.
Sequence
Sequence length 168
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Fatty acid biosynthesis
Metabolic pathways
Fatty acid metabolism 		  Fatty acyl-CoA biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS