PECR
gene geneOn this page
Also known as HSA250303TERPSDR29C1
Summary
PECR (peroxisomal trans-2-enoyl-CoA reductase, HGNC:18281) is a protein-coding gene on chromosome 2q35, encoding Peroxisomal trans-2-enoyl-CoA reductase (Q9BY49). Participates in chain elongation of fatty acids.
Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome.
Source: NCBI Gene 55825 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_018441
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18281 |
| Approved symbol | PECR |
| Name | peroxisomal trans-2-enoyl-CoA reductase |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSA250303, TERP, SDR29C1 |
| Ensembl gene | ENSG00000115425 |
| Ensembl biotype | protein_coding |
| OMIM | 605843 |
| Entrez | 55825 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 protein_coding_CDS_not_defined, 3 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000265322, ENST00000442122, ENST00000461330, ENST00000464722, ENST00000464737, ENST00000474093, ENST00000487318, ENST00000497889, ENST00000896257, ENST00000912895
RefSeq mRNA: 1 — MANE Select: NM_018441
NM_018441
CCDS: CCDS33375
Canonical transcript exons
ENST00000265322 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001696405 | 216038388 | 216039360 |
| ENSE00001904119 | 216081618 | 216081809 |
| ENSE00003464222 | 216051449 | 216051545 |
| ENSE00003472690 | 216058895 | 216058976 |
| ENSE00003539617 | 216043904 | 216044015 |
| ENSE00003634143 | 216049263 | 216049373 |
| ENSE00003662718 | 216066385 | 216066518 |
| ENSE00003682321 | 216065312 | 216065477 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 98.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1048 / max 298.3611, expressed in 1715 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33763 | 7.6447 | 1685 |
| 33762 | 4.3947 | 937 |
| 33764 | 0.0654 | 28 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 98.72 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.65 | gold quality |
| nipple | UBERON:0002030 | 97.35 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.90 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.83 | gold quality |
| synovial joint | UBERON:0002217 | 96.83 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.71 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.65 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.58 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 96.45 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.45 | gold quality |
| pylorus | UBERON:0001166 | 96.39 | gold quality |
| sperm | CL:0000019 | 96.37 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 96.37 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.29 | gold quality |
| pericardium | UBERON:0002407 | 96.14 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.05 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.04 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.98 | gold quality |
| saphenous vein | UBERON:0007318 | 95.63 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.50 | gold quality |
| vena cava | UBERON:0004087 | 95.48 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.36 | gold quality |
| jejunum | UBERON:0002115 | 95.35 | gold quality |
| urethra | UBERON:0000057 | 95.05 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.96 | gold quality |
| endothelial cell | CL:0000115 | 94.92 | gold quality |
| body of tongue | UBERON:0011876 | 94.78 | gold quality |
| liver | UBERON:0002107 | 94.77 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.87 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, ESR1, POU1F1
miRNA regulators (miRDB)
73 targeting PECR, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 3)
- Human trans-2-enoyl-CoA reductase (TER) is responsible for the reduction of phytenoyl-CoA to phytanoyl-CoA in peroxisomes. (PMID:16546181)
- Biochemical studies and structural analysis suggest that pDCRs can catalyze the shortening of six-carbon-long substrates in vitro. (PMID:22745130)
- Trans-2-enoyl-CoA reductase limits Ca(2+) accumulation in the endoplasmic reticulum by inhibiting the Ca(2+) pump SERCA2b. (PMID:33482198)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pecr | ENSDARG00000055976 |
| mus_musculus | Pecr | ENSMUSG00000026189 |
| rattus_norvegicus | Pecr | ENSRNOG00000055295 |
Protein
Protein identifiers
Peroxisomal trans-2-enoyl-CoA reductase — Q9BY49 (reviewed: Q9BY49)
Alternative names: 2,4-dienoyl-CoA reductase-related protein, HPDHase, Short chain dehydrogenase/reductase family 29C member 1, pVI-ARL
All UniProt accessions (2): Q9BY49, B4DJS2
UniProt curated annotations — full annotation on UniProt →
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.
Subunit / interactions. Interacts with PEX5, probably required to target it into peroxisomes.
Subcellular location. Peroxisome.
Induction. Not induced by IR.
Pathway. Lipid metabolism; fatty acid biosynthesis.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BY49-1 | 1 | yes |
| Q9BY49-2 | 2 |
RefSeq proteins (1): NP_060911* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR052388 | Peroxisomal_t2-enoyl-CoA_red | Family |
Pfam: PF13561
Enzyme classification (BRENDA):
- EC 1.3.1.38 — trans-2-enoyl-CoA reductase (NADPH) (BRENDA: 11 organisms, 27 substrates, 18 inhibitors, 16 Km, 2 kcat entries)
Substrate kinetics (BRENDA)
10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NADPH | 0.0049–0.106 | 4 |
| TRANS-2-DECENOYL-COA | 0.0071–0.018 | 3 |
| 2-DODECENOYL-COA | 0.0043–0.0054 | 2 |
| NADH | 0.0152–0.0352 | 2 |
| TRANS-2-CROTONYL-COA | 0.072 | 1 |
| TRANS-2-DODECENOYL-COA | 0.0037 | 1 |
| TRANS-2-HEXENOYL-COA | 0.048 | 1 |
| TRANS-2-OCTENOYL-COA | 0.011 | 1 |
| TRANS-PHYTENOYL-COA | 0.018 | 1 |
| (4E)-DEC-4-ENOYL-COA | — | 0 |
Catalyzed reactions (Rhea), 6 shown:
- a (2E)-enoyl-CoA + NADPH + H(+) = a 2,3-saturated acyl-CoA + NADP(+) (RHEA:33763)
- (2E)-octenoyl-CoA + NADPH + H(+) = octanoyl-CoA + NADP(+) (RHEA:44952)
- (2E)-hexenoyl-CoA + NADPH + H(+) = hexanoyl-CoA + NADP(+) (RHEA:44956)
- (2E)-decenoyl-CoA + NADPH + H(+) = decanoyl-CoA + NADP(+) (RHEA:44960)
- (2E)-dodecenoyl-CoA + NADPH + H(+) = dodecanoyl-CoA + NADP(+) (RHEA:44964)
- (2E)-tetradecenoyl-CoA + NADPH + H(+) = tetradecanoyl-CoA + NADP(+) (RHEA:44968)
UniProt features (40 total): helix 16, strand 7, sequence conflict 4, modified residue 3, turn 2, sequence variant 2, chain 1, short sequence motif 1, mutagenesis site 1, active site 1, binding site 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1YXM | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BY49-F1 | 94.24 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 179 (proton acceptor)
Ligand- & substrate-binding residues (1): 23–47
Post-translational modifications (3): 32, 49, 179
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 303 | abolishes localization to peroxisomes. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-389599 | Alpha-oxidation of phytanate |
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 158 (showing top):
GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOCC_MICROBODY_MEMBRANE, GOMF_SIGNALING_RECEPTOR_BINDING, MODULE_207
GO Biological Process (4): fatty acid biosynthetic process (GO:0006633), phytol metabolic process (GO:0033306), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (3): signaling receptor binding (GO:0005102), trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166), oxidoreductase activity (GO:0016491)
GO Cellular Component (5): mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), cytoplasm (GO:0005737)
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 |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| fatty acid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| diterpenoid metabolic process | 1 |
| primary alcohol metabolic process | 1 |
| fatty alcohol metabolic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| protein binding | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| microbody | 1 |
| peroxisome | 1 |
| microbody membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
3589 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PECR | ACAA1 | P09110 | 594 |
| PECR | EHHADH | Q08426 | 574 |
| PECR | ACOX2 | Q99424 | 560 |
| PECR | PKNOX2 | Q96KN3 | 536 |
| PECR | TMEM69 | Q5SWH9 | 521 |
| PECR | CCDC137 | Q6PK04 | 507 |
| PECR | CLEC19A | Q6UXS0 | 502 |
| PECR | ACOX3 | O15254 | 493 |
| PECR | ZC3H10 | Q96K80 | 471 |
| PECR | CBLN3 | Q6UW01 | 460 |
| PECR | XIRP2 | A4UGR9 | 451 |
| PECR | PEX7 | O00628 | 447 |
| PECR | ECI2 | O75521 | 415 |
| PECR | PLTP | P55058 | 413 |
| PECR | LAMB4 | A4D0S4 | 412 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRAP2 | STAMBP | psi-mi:“MI:0914”(association) | 0.810 |
| TRIB1 | DET1 | psi-mi:“MI:0914”(association) | 0.640 |
| PECR | LCN1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIB1 | UBE2E1 | psi-mi:“MI:0914”(association) | 0.530 |
| HENMT1 | SNX2 | psi-mi:“MI:0914”(association) | 0.530 |
| POMGNT2 | PECR | psi-mi:“MI:0914”(association) | 0.530 |
| HENMT1 | RAD51C | psi-mi:“MI:0914”(association) | 0.350 |
| POMGNT2 | EIF4E2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2E3 | RCBTB2 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| PEX5 | AGPS | psi-mi:“MI:0914”(association) | 0.350 |
| POLRMT | psi-mi:“MI:0914”(association) | 0.350 | |
| SUPT5H | psi-mi:“MI:0914”(association) | 0.350 | |
| GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 | |
| GTPBP1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RNF181 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP2A | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (40): ACTA2 (Affinity Capture-MS), ACY1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), UBA5 (Affinity Capture-MS), PECR (Affinity Capture-MS), HNRNPF (Affinity Capture-MS), PECR (Affinity Capture-MS), PECR (Affinity Capture-MS), PECR (Affinity Capture-MS), LCN1 (Affinity Capture-MS), UBA5 (Affinity Capture-MS), ACY1 (Affinity Capture-MS), PECR (Affinity Capture-MS), PEX5 (Affinity Capture-Western), PECR (Proximity Label-MS)
ESM2 similar proteins: A0A023I4F1, A0A084B9Z1, A0A084R1K2, A0A097ZPE8, A0A0S2CGD3, A0A142I726, A0A144Y7G4, A0A162J3X8, A0A1B2CTA9, A0A1J0HSK7, A0A1L9WLE6, A0A443HJZ3, A0A455LLX2, A0A4P8DJW5, A0A8J9S3B0, A3F5F0, B6H062, B8M9K8, D7PI11, G0RH19, G0RNA2, G4N292, G9N4A1, G9N4A2, G9N4A6, L0E2Z4, L0E4F8, L7WRR9, M2Y1A3, M2YJK1, P32573, P9WEF8, Q00674, Q5AR48, Q5RCH8, Q6NV34, Q7SHI1, Q7Z9I3, Q7Z9I4, Q93761
Diamond homologs: A0A023I4F1, A0A078IS66, A0A078ISJ6, A0A0C6DRT7, A0A0U5CNP2, A0A1B7YCL6, A0A1V0QS34, A0A2H3CNT9, A0A2H3CZZ2, A0A2H3D905, A0A4P8W851, A0A823A767, A2RVM0, A6QP05, B2X050, B6H062, B8A5W4, C8V3Y7, C8VI80, D4AK45, D7UQ42, D7UTD0, F4JJR8, O34717, O48741, O66148, O74959, O80333, P0AFP4, P0AFP5, P21218, P35320, P39577, P46331, P59837, Q01289, Q03326, Q0UK52, Q17QU7, Q17QW3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2106 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:215996440:C:CT | acceptor_gain | 1.0000 |
| 2:215996461:TATCA:T | acceptor_gain | 1.0000 |
| 2:215996462:ATCA:A | acceptor_gain | 1.0000 |
| 2:215996463:TCA:T | acceptor_gain | 1.0000 |
| 2:215996463:TCAC:T | acceptor_loss | 1.0000 |
| 2:215996464:CA:C | acceptor_gain | 1.0000 |
| 2:215996464:CAC:C | acceptor_gain | 1.0000 |
| 2:215996466:C:CC | acceptor_gain | 1.0000 |
| 2:215996466:C:CG | acceptor_loss | 1.0000 |
| 2:215996467:T:C | acceptor_loss | 1.0000 |
| 2:215996469:T:C | acceptor_gain | 1.0000 |
| 2:215996469:T:TC | acceptor_gain | 1.0000 |
| 2:215996471:G:C | acceptor_gain | 1.0000 |
| 2:215996473:A:AC | acceptor_gain | 1.0000 |
| 2:215996473:A:C | acceptor_gain | 1.0000 |
| 2:216043900:TCAC:T | donor_loss | 1.0000 |
| 2:216043901:CA:C | donor_loss | 1.0000 |
| 2:216043902:A:AG | donor_loss | 1.0000 |
| 2:216044016:C:CC | acceptor_gain | 1.0000 |
| 2:216044016:C:T | acceptor_loss | 1.0000 |
| 2:216049258:CTTAC:C | donor_loss | 1.0000 |
| 2:216049259:TTA:T | donor_loss | 1.0000 |
| 2:216049260:TACCT:T | donor_loss | 1.0000 |
| 2:216049261:ACCT:A | donor_gain | 1.0000 |
| 2:216049262:CCTC:C | donor_gain | 1.0000 |
| 2:216049264:T:TA | donor_gain | 1.0000 |
| 2:216049373:CCTG:C | acceptor_gain | 1.0000 |
| 2:216049376:G:C | acceptor_gain | 1.0000 |
| 2:216049376:G:GC | acceptor_gain | 1.0000 |
| 2:216049379:T:TC | acceptor_gain | 1.0000 |
AlphaMissense
1959 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:216065400:A:C | F112L | 0.997 |
| 2:216065400:A:T | F112L | 0.997 |
| 2:216065402:A:G | F112L | 0.997 |
| 2:216051456:A:T | V199D | 0.995 |
| 2:216058933:A:C | N156K | 0.994 |
| 2:216058933:A:T | N156K | 0.994 |
| 2:216058937:A:T | V155D | 0.994 |
| 2:216065418:G:C | N106K | 0.994 |
| 2:216065418:G:T | N106K | 0.994 |
| 2:216066398:C:G | R82P | 0.994 |
| 2:216051461:A:C | N197K | 0.993 |
| 2:216051461:A:T | N197K | 0.993 |
| 2:216065366:A:G | W124R | 0.993 |
| 2:216065366:A:T | W124R | 0.993 |
| 2:216049282:C:G | R232P | 0.992 |
| 2:216051510:A:G | L181P | 0.992 |
| 2:216081674:A:T | V23D | 0.992 |
| 2:216051487:A:G | W189R | 0.991 |
| 2:216051487:A:T | W189R | 0.991 |
| 2:216065341:A:G | L132P | 0.991 |
| 2:216081629:A:G | L38P | 0.991 |
| 2:216081666:C:A | G26W | 0.991 |
| 2:216051468:C:G | R195P | 0.990 |
| 2:216044002:A:T | V243D | 0.988 |
| 2:216066495:G:T | R50S | 0.987 |
| 2:216081650:C:T | G31E | 0.987 |
| 2:216049276:C:T | G234D | 0.986 |
| 2:216051458:A:C | C198W | 0.986 |
| 2:216081668:C:T | G25D | 0.986 |
| 2:216065321:A:G | C139R | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000016210 (2:216037689 C>A,T), RS1000047597 (2:216036222 C>T), RS1000060809 (2:216060430 G>A), RS1000201554 (2:216053809 C>G,T), RS1000365963 (2:216047934 T>C,G), RS1000378204 (2:216053982 A>T), RS1000397457 (2:216036512 GGAGA>G,GGA), RS1000433361 (2:216060243 C>A,T), RS1000610392 (2:216036136 C>T), RS1000645213 (2:216077180 G>A), RS1000660778 (2:216047371 C>G), RS1000671144 (2:216029448 G>A), RS1000764124 (2:216029713 G>A), RS1000800654 (2:216047648 T>C,G), RS1000810811 (2:216064796 C>A,T)
Disease associations
OMIM: gene MIM:605843 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000432_2 | Alcohol dependence | 1.000000e-08 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases expression, increases methylation | 3 |
| Benzo(a)pyrene | decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| hexanoyl-coenzyme A | affects binding, affects cotreatment | 1 |
| decanoyl-coenzyme A | affects binding, affects cotreatment | 1 |
| lauroyl-coenzyme A | affects binding, affects cotreatment | 1 |
| bicalutamide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| GW 4064 | decreases expression, affects cotreatment | 1 |
| GW 7647 | affects cotreatment, decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence