HACD2 (3-hydroxyacyl-CoA dehydratase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 201562 |
| Gene name | 3-hydroxyacyl-CoA dehydratase 2 |
| Gene symbol | HACD2 |
| Synonyms (NCBI Gene) |
PTPLB
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| Chromosome | 3 |
| Chromosome location | 3q21.1 |
| Summary | The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016] |
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miRNA
miRNA information provided by mirtarbase database.
126
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6Y1H2 | ||||||||||
| Protein name | Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 2) (HACD2) (Protein-tyrosine phosphatase-like member B) | ||||||||||
| Protein function | Catalyzes the third of the very long-chain fatty acids (VLCFA) elongation four-step cycle (condensation, reduction, dehydration, and reduction). This endoplasmic reticulum-elongation process is characterized by the addition of two carbons to the | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in testis, spleen, prostate, colon and heart, followed by moderate expression in thymus, ovary, small intestine, peripheral blood leukocytes, liver, skeletal muscle and pancreas. Weakly detected in kidney, placenta, br | ||||||||||
| Sequence |
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| Sequence length | 254 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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