Gene Gene information from NCBI Gene database.
Entrez ID 55825
Gene name Peroxisomal trans-2-enoyl-CoA reductase
Gene symbol PECR
Synonyms (NCBI Gene)
DCRRPHPDHASEHSA250303PVIARLSDR29C1TERP
Chromosome 2
Chromosome location 2q35
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT023047 hsa-miR-124-3p Microarray 18668037
MIRT719482 hsa-miR-548a-3p HITS-CLIP 19536157
MIRT719481 hsa-miR-548ar-3p HITS-CLIP 19536157
MIRT719480 hsa-miR-548az-3p HITS-CLIP 19536157
MIRT719479 hsa-miR-548e-3p 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:0005102 Function Signaling receptor binding IPI 11669066
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IEA
GO:0005777 Component Peroxisome IBA
GO:0005777 Component Peroxisome IDA 11669066
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605843 18281 ENSG00000115425
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BY49
Protein name Peroxisomal trans-2-enoyl-CoA reductase (TERP) (EC 1.3.1.38) (2,4-dienoyl-CoA reductase-related protein) (DCR-RP) (HPDHase) (Short chain dehydrogenase/reductase family 29C member 1) (pVI-ARL)
Protein function Participates in chain elongation of fatty acids. Catalyzes the reduction of trans-2-enoyl-CoAs of varying chain lengths from 6:1 to 16:1, having maximum activity with 10:1 CoA. Has no 2,4-dienoyl-CoA reductase activity. {ECO:0000269|PubMed:10811
PDB 1YXM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13561 adh_short_C2 25 266 Domain
Sequence
Sequence length 303
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Peroxisome   Alpha-oxidation of phytanate
Peroxisomal protein import
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
INTELLECTUAL DISABILITY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Pain Stimulate 29156912
★☆☆☆☆
Found in Text Mining only