DECR2

2,4-dienoyl-CoA reductase 2, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 16:401858-412487

Links

ENSG00000242612

∙ NCBI:26063 ∙ OMIM:615839 ∙ HGNC:2754 ∙ Uniprot:Q9NUI1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DECR2 gene.

not_specified (66 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DECR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020664.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			63 clinvar	3 clinvar		66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DECR2	protein_coding	protein_coding	ENST00000219481	8	10662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.65e-10	0.0427	125186	1	548	125735	0.00219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.191	208	200	1.04	0.0000140	1858
Missense in Polyphen		84	80.474	1.0438		760
Synonymous	-1.39	103	86.5	1.19	0.00000675	618
Loss of Function	-0.325	14	12.8	1.10	7.75e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0167	0.0166
Ashkenazi Jewish	0.00170	0.00109
East Asian	0.00185	0.00185
Finnish	0.000144	0.000139
European (Non-Finnish)	0.00100	0.000985
Middle Eastern	0.00185	0.00185
South Asian	0.00226	0.00226
Other	0.00246	0.00245

dbNSFP

Source: dbNSFP

Function: FUNCTION: Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19- docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid.;
Pathway: Peroxisome - Homo sapiens (human);Metabolism of lipids;Metabolism of proteins;Leukotriene metabolism;Beta-oxidation of very long chain fatty acids;Peroxisomal lipid metabolism;Metabolism;Peroxisomal protein import;Fatty acid metabolism;Omega-6 fatty acid metabolism;Di-unsaturated fatty acid beta-oxidation (Consensus)

Recessive Scores

pRec: 0.131

Intolerance Scores

loftool: 0.566
rvis_EVS: -0.24
rvis_percentile_EVS: 36.17

Haploinsufficiency Scores

pHI: 0.305
hipred: N
hipred_score: 0.466
ghis: 0.449

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.218

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Decr2
Phenotype

Gene ontology

Biological process: protein targeting to peroxisome;unsaturated fatty acid biosynthetic process;fatty acid beta-oxidation using acyl-CoA oxidase
Cellular component: peroxisomal membrane;cytosol
Molecular function: signaling receptor binding;2,4-dienoyl-CoA reductase (NADPH) activity;trans-2-enoyl-CoA reductase (NADPH) activity