HTD2 (hydroxyacyl-thioester dehydratase type 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 109703458
Gene name Hydroxyacyl-thioester dehydratase type 2
Gene symbol HTD2
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p14.3
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
620769 53111 ENSG00000255154
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
RHEUMATOID ARTHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Rheumatoid Arthritis Rheumatoid arthritis GWASCAT_DG 24390342, 24532676, 30423114
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 24390342
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations