DECR2
geneOn this page
Also known as PDCRSDR17C1
Summary
DECR2 (2,4-dienoyl-CoA reductase 2, HGNC:2754) is a protein-coding gene on chromosome 16p13.3, encoding Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] (Q9NUI1). Auxiliary enzyme of beta-oxidation.
Enables 2,4-dienoyl-CoA reductase (NADPH) activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in unsaturated fatty acid biosynthetic process. Predicted to be located in cytosol and peroxisomal membrane. Predicted to be active in peroxisome.
Source: NCBI Gene 26063 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 100 total
- Druggable target: yes
- MANE Select transcript:
NM_020664
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2754 |
| Approved symbol | DECR2 |
| Name | 2,4-dienoyl-CoA reductase 2 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PDCR, SDR17C1 |
| Ensembl gene | ENSG00000242612 |
| Ensembl biotype | protein_coding |
| OMIM | 615839 |
| Entrez | 26063 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 18 protein_coding, 6 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000219481, ENST00000424398, ENST00000429116, ENST00000437024, ENST00000439661, ENST00000445291, ENST00000461749, ENST00000461802, ENST00000461947, ENST00000465166, ENST00000469922, ENST00000627716, ENST00000631605, ENST00000632744, ENST00000633025, ENST00000633348, ENST00000633923, ENST00000876953, ENST00000876954, ENST00000876955, ENST00000876956, ENST00000876957, ENST00000876958, ENST00000876959, ENST00000876960, ENST00000876961, ENST00000876962, ENST00000931574, ENST00000949770, ENST00000949771
RefSeq mRNA: 1 — MANE Select: NM_020664
NM_020664
CCDS: CCDS10409
Canonical transcript exons
ENST00000219481 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003496745 | 410691 | 410784 |
| ENSE00003554540 | 406346 | 406397 |
| ENSE00003558181 | 410243 | 410367 |
| ENSE00003633106 | 404956 | 405024 |
| ENSE00003640577 | 407425 | 407560 |
| ENSE00003643647 | 411361 | 411578 |
| ENSE00003780221 | 401885 | 402043 |
| ENSE00003790014 | 410972 | 411076 |
| ENSE00003846318 | 411890 | 412482 |
Expression profiles
Bgee: expression breadth ubiquitous, 137 present calls, max score 98.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4641 / max 177.9587, expressed in 1754 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151913 | 5.7786 | 1722 |
| 151914 | 2.6396 | 1405 |
| 151916 | 0.0158 | 5 |
| 151915 | 0.0157 | 7 |
| 151917 | 0.0144 | 5 |
Top tissues by expression
137 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.32 | gold quality |
| liver | UBERON:0002107 | 96.67 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.34 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.17 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.96 | gold quality |
| duodenum | UBERON:0002114 | 93.77 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.60 | gold quality |
| transverse colon | UBERON:0001157 | 92.17 | gold quality |
| cortex of kidney | UBERON:0001225 | 92.14 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.05 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.02 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.42 | gold quality |
| apex of heart | UBERON:0002098 | 91.19 | gold quality |
| body of pancreas | UBERON:0001150 | 91.17 | gold quality |
| adrenal gland | UBERON:0002369 | 90.90 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.89 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.83 | gold quality |
| small intestine | UBERON:0002108 | 90.76 | gold quality |
| muscle of leg | UBERON:0001383 | 90.33 | gold quality |
| colon | UBERON:0001155 | 89.46 | gold quality |
| kidney | UBERON:0002113 | 89.36 | gold quality |
| body of stomach | UBERON:0001161 | 89.35 | gold quality |
| intestine | UBERON:0000160 | 89.28 | gold quality |
| fundus of stomach | UBERON:0001160 | 89.09 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.05 | gold quality |
| left uterine tube | UBERON:0001303 | 87.67 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.67 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.61 | gold quality |
| prostate gland | UBERON:0002367 | 87.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting DECR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-6765-3P | 97.83 | 64.59 | 1165 |
| HSA-MIR-1226-3P | 97.51 | 66.32 | 1063 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
Literature-anchored findings (GeneRIF, showing 1)
- Peroxisomal beta-oxidation enzyme, DECR2, regulates lipid metabolism and promotes treatment resistance in advanced prostate cancer. (PMID:38216720)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | decr2 | ENSDARG00000045257 |
| mus_musculus | Decr2 | ENSMUSG00000036775 |
| rattus_norvegicus | Decr2 | ENSRNOG00000088984 |
Paralogs (1): DECR1 (ENSG00000104325)
Protein
Protein identifiers
Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] — Q9NUI1 (reviewed: Q9NUI1)
Alternative names: 2,4-dienoyl-CoA reductase 2, Short chain dehydrogenase/reductase family 17C member 1
All UniProt accessions (7): A0A0J9YWI0, A0A0J9YXZ6, A0A0J9YY83, Q9NUI1, G3V0I9, H7C078, Q4VXZ8
UniProt curated annotations — full annotation on UniProt →
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.
Subunit / interactions. Monomer, dimer and oligomer.
Subcellular location. Peroxisome.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUI1-1 | 1 | yes |
| Q9NUI1-2 | 2 | |
| Q9NUI1-3 | 3 |
RefSeq proteins (1): NP_065715* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR045017 | DECR2-like | Family |
| IPR057326 | KR_dom | Domain |
Pfam: PF13561
Enzyme classification (BRENDA):
- EC 1.3.1.124 — 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] (BRENDA: 7 organisms, 32 substrates, 3 inhibitors, 26 Km, 1 kcat entries)
- EC 1.3.1.34 — 2,4-dienoyl-CoA reductase [(2E)-enoyl-CoA-producing] (BRENDA: 7 organisms, 19 substrates, 4 inhibitors, 17 Km, 7 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NADPH | 0.0025–0.215 | 8 |
| NADPH | 0.0004–0.0605 | 8 |
| TRANS-TRANS-2,4-HEXADIENOYL-COA | 0.0045–0.154 | 5 |
| (2E,4E)-2,4-DECADIENOYL-COA | 0.006–0.0154 | 3 |
| (2E,4E)-2,4-HEXADIENOYL-COA | 0.0265–0.059 | 2 |
| 2,4,7,10,13,16,19-DOCOSAHEPTAENOYL-COA | 0.102–0.155 | 2 |
| 2-TRANS,4-TRANS-HEXADIENOYL-COA | 0.0005–0.108 | 2 |
| (2E,4E)-2,4-OCTADIENOYL-COA | 0.0158 | 1 |
| 2,4-DECADIENOYL-COA | 0.006 | 1 |
| 2-FLUORO-TRANS-TRANS-2,4-OCTADIENOYL-COA | 0.0065 | 1 |
| 5-METHYL-TRANS-TRANS-2,4-HEXADIENOYL-COA | 0.016 | 1 |
| (2E,4E)-2,4-DECADIENOYL-COA | 0.0127 | 1 |
| (2E,4E)-2,4-HEXADIENOYL-COA | 0.0716 | 1 |
| 2,4,7,10,13,16,19-DOCOSAHEPTAENOYL-COA | 0.102 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- (2E,4Z,7Z,10Z,13Z,16Z,19Z)-docosaheptaenoyl-CoA + NADPH + H(+) = (3E,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + NADP(+) (RHEA:44920)
- a (2E,4E)-dienoyl-CoA + NADPH + H(+) = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+) (RHEA:45912)
- a (2E,4Z)-dienoyl-CoA + NADPH + H(+) = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+) (RHEA:61892)
UniProt features (52 total): helix 15, binding site 10, strand 9, modified residue 4, splice variant 4, mutagenesis site 4, turn 3, initiator methionine 1, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4FC7 | X-RAY DIFFRACTION | 1.84 |
| 4FC6 | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUI1-F1 | 95.77 | 0.92 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (10): 182; 208–214; 219; 35–40; 60–64; 60; 86; 88; 118; 126–128
Post-translational modifications (4): 2, 151, 287, 291
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 86 | reduces enzyme activity by 98%. |
| 137 | reduces enzyme activity by 97%. |
| 186 | reduces enzyme activity by about 95%. |
| 268 | reduces enzyme activity by 97%. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390247 | Beta-oxidation of very long chain fatty acids |
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 111 (showing top):
GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOMF_GTPASE_BINDING, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_OXIDASE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS
GO Biological Process (5): fatty acid metabolic process (GO:0006631), unsaturated fatty acid biosynthetic process (GO:0006636), fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), lipid metabolic process (GO:0006629), fatty acid catabolic process (GO:0009062)
GO Molecular Function (6): 2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670), trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166), protein-containing complex binding (GO:0044877), GTPase binding (GO:0051020), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Peroxisomal lipid metabolism | 1 |
| Protein localization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 2 |
| binding | 2 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| fatty acid biosynthetic process | 1 |
| unsaturated fatty acid metabolic process | 1 |
| fatty acid beta-oxidation | 1 |
| primary metabolic process | 1 |
| fatty acid metabolic process | 1 |
| lipid catabolic process | 1 |
| monocarboxylic acid catabolic process | 1 |
| enzyme binding | 1 |
| catalytic activity | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody membrane | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3719 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DECR2 | ACOX1 | Q15067 | 631 |
| DECR2 | HSD17B4 | P51659 | 578 |
| DECR2 | ECI2 | O75521 | 537 |
| DECR2 | PRR35 | P0CG20 | 522 |
| DECR2 | ZNF563 | Q8TA94 | 519 |
| DECR2 | EHHADH | Q08426 | 518 |
| DECR2 | ECI1 | P42126 | 496 |
| DECR2 | KBTBD12 | Q3ZCT8 | 492 |
| DECR2 | ACAA1 | P09110 | 491 |
| DECR2 | RRP36 | Q96EU6 | 464 |
| DECR2 | RAB11FIP3 | O75154 | 460 |
| DECR2 | TOGARAM1 | Q9Y4F4 | 450 |
| DECR2 | ACOT8 | O14734 | 440 |
| DECR2 | IHO1 | Q8IYA8 | 437 |
| DECR2 | KCNG3 | Q8TAE7 | 431 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| OSGIN1 | DECR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VPS26C | DECR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DECR2 | C14orf119 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP11 | DECR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DECR2 | OSGIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GORASP1 | PPP6R2 | psi-mi:“MI:0914”(association) | 0.530 |
| DECR2 | WDTC1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| DECR2 | EP300 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Flnb | RPL22 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2CB | DKFZP586J0619 | psi-mi:“MI:0914”(association) | 0.350 |
| LIMA1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Coro1c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| RNASEH2A | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP2 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PEX5 | AGPS | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| OSTM1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| POLR3A | psi-mi:“MI:0914”(association) | 0.350 | |
| POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (67): SESTD1 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), SESTD1 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Affinity Capture-MS), DECR2 (Proximity Label-MS)
ESM2 similar proteins: A0A084B9Z1, A0A0S2CGD3, A0A0U5GHD4, A0A142I726, A0A144Y7G4, A0A162J3X8, A0A1B2CTA9, A0A1L9WLE6, A0A1Y0BRF8, A0A3G9HAL8, A0A411KUU9, A0A443HJZ3, A0A455R5K2, A0A4P8GEE8, A0A8J9S3B0, A3F5F0, B6H061, B8M9K8, F4J300, G0RNA2, G4N1P8, L0E2Z4, L7I518, L7WRR9, M1VVW5, M2Y1A3, M2YJK1, O08756, O94207, P32573, Q08632, Q5AR48, Q5KTS5, Q5RBV3, Q6NV34, Q75KH3, Q7SHI1, Q7SHI4, Q93761, Q94KL8
Diamond homologs: A0A1A9TAK5, A0A1C9II22, A0A7T8F1N2, A0AAW1NHX6, A4UHT7, A7B3K3, A7DY56, B2GV72, B2X050, B8A5W4, C0KTJ6, I1RL15, M2ZIX7, O34308, O74959, O75828, P0AET8, P0AET9, P16152, P35320, P38004, P40471, P42317, P47727, P47844, P48758, P50165, P50205, P76633, Q03326, Q071N0, Q12634, Q28960, Q3SZD7, Q4A054, Q5F389, Q5R9W5, Q5RBV3, Q5RCU5, Q6NV34
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2162 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:406398:G:GG | donor_gain | 1.0000 |
| 16:407561:G:GG | donor_gain | 1.0000 |
| 16:410355:G:GT | donor_gain | 1.0000 |
| 16:410685:TTGCA:T | acceptor_loss | 1.0000 |
| 16:410686:TGCAG:T | acceptor_loss | 1.0000 |
| 16:410687:GCAGG:G | acceptor_loss | 1.0000 |
| 16:410688:CA:C | acceptor_loss | 1.0000 |
| 16:410970:A:AG | acceptor_gain | 1.0000 |
| 16:410971:G:GG | acceptor_gain | 1.0000 |
| 16:410971:GAC:G | acceptor_gain | 1.0000 |
| 16:410971:GACGC:G | acceptor_gain | 1.0000 |
| 16:411074:TGGG:T | donor_loss | 1.0000 |
| 16:411075:GG:G | donor_gain | 1.0000 |
| 16:411076:GG:G | donor_gain | 1.0000 |
| 16:411077:G:GG | donor_gain | 1.0000 |
| 16:411078:T:G | donor_loss | 1.0000 |
| 16:411359:A:AG | acceptor_gain | 1.0000 |
| 16:411359:AGGT:A | acceptor_gain | 1.0000 |
| 16:411360:G:GG | acceptor_gain | 1.0000 |
| 16:411360:GGT:G | acceptor_gain | 1.0000 |
| 16:411360:GGTG:G | acceptor_gain | 1.0000 |
| 16:402041:GCG:G | donor_gain | 0.9900 |
| 16:402042:CGGT:C | donor_loss | 0.9900 |
| 16:402044:G:GG | donor_gain | 0.9900 |
| 16:402044:GTGA:G | donor_loss | 0.9900 |
| 16:402045:T:G | donor_loss | 0.9900 |
| 16:402046:GA:G | donor_loss | 0.9900 |
| 16:402059:G:T | donor_gain | 0.9900 |
| 16:405022:GCG:G | donor_gain | 0.9900 |
| 16:406014:G:GT | donor_gain | 0.9900 |
AlphaMissense
1888 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:406375:G:T | R60M | 0.996 |
| 16:410257:T:C | F118L | 0.996 |
| 16:410259:C:A | F118L | 0.996 |
| 16:410259:C:G | F118L | 0.996 |
| 16:407559:C:A | N112K | 0.995 |
| 16:407559:C:G | N112K | 0.995 |
| 16:410256:C:A | N117K | 0.994 |
| 16:410256:C:G | N117K | 0.994 |
| 16:410714:C:A | N162K | 0.994 |
| 16:410714:C:G | N162K | 0.994 |
| 16:411001:T:A | W196R | 0.993 |
| 16:411001:T:C | W196R | 0.993 |
| 16:411459:A:C | S254R | 0.993 |
| 16:411461:C:A | S254R | 0.993 |
| 16:411461:C:G | S254R | 0.993 |
| 16:411483:G:T | G262W | 0.992 |
| 16:404997:G:A | G41E | 0.991 |
| 16:410770:C:A | A181D | 0.991 |
| 16:410774:G:C | K182N | 0.991 |
| 16:410774:G:T | K182N | 0.991 |
| 16:411028:A:C | S205R | 0.991 |
| 16:411030:C:A | S205R | 0.991 |
| 16:411030:C:G | S205R | 0.991 |
| 16:404979:G:A | G35E | 0.990 |
| 16:410775:G:C | A183P | 0.990 |
| 16:410974:G:C | A187P | 0.990 |
| 16:404967:C:A | A31D | 0.988 |
| 16:410258:T:C | F118S | 0.988 |
| 16:410778:G:C | A184P | 0.988 |
| 16:410993:C:A | A193D | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000052107 (16:404480 T>C), RS1000502172 (16:408974 G>A), RS1000941534 (16:409876 G>A,C), RS1001093788 (16:401832 T>A), RS1001358969 (16:404061 T>G), RS1001768402 (16:403890 T>C), RS1001993657 (16:407677 G>A,T), RS1002041385 (16:412138 G>A), RS1002489611 (16:411862 C>T), RS1002494555 (16:403121 C>G,T), RS1002502169 (16:402761 A>G), RS1002751879 (16:400592 C>T), RS1002864346 (16:406468 A>G), RS1003046018 (16:409540 C>T), RS1003268537 (16:408695 T>A,G)
Disease associations
OMIM: gene MIM:615839 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_12 | Body mass index | 5.000000e-11 |
| GCST009733_65 | Urinary metabolite levels in chronic kidney disease | 2.000000e-12 |
| GCST012335_3 | Hodgkin’s lymphoma | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0005116 | urinary metabolite measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066268 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs5841 | DECR2, NME4 | 0.00 | 0 |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 2 |
| Arsenic | increases abundance, affects methylation, affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Valproic Acid | decreases methylation, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tetrahydropalmatine | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| aflatoxin B2 | increases methylation | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| avobenzone | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression, increases secretion | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| NADP | affects binding, increases activity | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651270 | Binding | Binding affinity to human DECR2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Hodgkins lymphoma