Gene Gene information from NCBI Gene database.
Entrez ID 201562
Gene name 3-hydroxyacyl-CoA dehydratase 2
Gene symbol HACD2
Synonyms (NCBI Gene)
PTPLB
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]
miRNA miRNA information provided by mirtarbase database.
126
miRTarBase ID miRNA Experiments Reference
MIRT700532 hsa-miR-329-3p HITS-CLIP 23313552
MIRT700531 hsa-miR-362-3p HITS-CLIP 23313552
MIRT700530 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT700529 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT700528 hsa-miR-205-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0004725 Function Protein tyrosine phosphatase activity IMP 15024066
GO:0005515 Function Protein binding IPI 15024066, 25416956, 30021884, 32296183, 38422897
GO:0005783 Component Endoplasmic reticulum IDA 15024066, 18554506
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615939 9640 ENSG00000206527
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF04387 PTPLA 85 246 Protein tyrosine phosphatase-like protein, PTPLA Family
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
Sequence length 254
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37181808 Associate
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 24214394 Associate
★☆☆☆☆
Found in Text Mining only