Gene Gene information from NCBI Gene database.
Entrez ID 401494
Gene name 3-hydroxyacyl-CoA dehydratase 4
Gene symbol HACD4
Synonyms (NCBI Gene)
PTPLAD2
Chromosome 9
Chromosome location 9p21.3
miRNA miRNA information provided by mirtarbase database.
194
miRTarBase ID miRNA Experiments Reference
MIRT708724 hsa-miR-5196-3p HITS-CLIP 19536157
MIRT708723 hsa-miR-4793-5p HITS-CLIP 19536157
MIRT708722 hsa-miR-5193 HITS-CLIP 19536157
MIRT708721 hsa-miR-660-3p HITS-CLIP 19536157
MIRT708718 hsa-miR-6835-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA 18554506
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615941 20920 ENSG00000188921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VWC8
Protein name Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 4) (HACD4) (Protein-tyrosine phosphatase-like A domain-containing protein 2)
Protein function Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cyc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04387 PTPLA 65 224 Protein tyrosine phosphatase-like protein, PTPLA Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in leukocytes, and low expression in heart, spleen, kidney, and placenta. {ECO:0000269|PubMed:18554506}.
Sequence
Sequence length 232
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.).
1
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
ERECTILE DYSFUNCTION 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
Anodontia Anodontia Pubtator 28803425 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29031776
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29031776
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28803425 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 24530685
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 33116468 Associate
★☆☆☆☆
Found in Text Mining only