NREP
gene geneOn this page
Also known as P311D4S114PRO1873PTZ17SEZ17
Summary
NREP (neuronal regeneration related protein, HGNC:16834) is a protein-coding gene on chromosome 5q22.1, encoding Neuronal regeneration-related protein (Q16612). May have roles in neural function.
Predicted to be involved in axon regeneration; regulation of neuron differentiation; and regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in cytoplasm.
Source: NCBI Gene 9315 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_004772
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16834 |
| Approved symbol | NREP |
| Name | neuronal regeneration related protein |
| Location | 5q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P311, D4S114, PRO1873, PTZ17, SEZ17 |
| Ensembl gene | ENSG00000134986 |
| Ensembl biotype | protein_coding |
| OMIM | 607332 |
| Entrez | 9315 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 28 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000257435, ENST00000379671, ENST00000395634, ENST00000419114, ENST00000446294, ENST00000447165, ENST00000450761, ENST00000453526, ENST00000455559, ENST00000503429, ENST00000504018, ENST00000505864, ENST00000507032, ENST00000507742, ENST00000508161, ENST00000508870, ENST00000509025, ENST00000509427, ENST00000509979, ENST00000513100, ENST00000513684, ENST00000514515, ENST00000515855, ENST00000875801, ENST00000875802, ENST00000875803, ENST00000875804, ENST00000920636, ENST00000920637, ENST00000920638, ENST00000920639, ENST00000920640, ENST00000920641, ENST00000920642
RefSeq mRNA: 11 — MANE Select: NM_004772
NM_001142474, NM_001142475, NM_001142476, NM_001142477, NM_001142478, NM_001142479, NM_001142480, NM_001142481, NM_001142482, NM_001142483, NM_004772
CCDS: CCDS4105, CCDS47255
Canonical transcript exons
ENST00000257435 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001770789 | 111729303 | 111731046 |
| ENSE00002058117 | 111757136 | 111757194 |
| ENSE00003586374 | 111755770 | 111755830 |
| ENSE00003666801 | 111735430 | 111735507 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.3110 / max 1586.9318, expressed in 1656 samples.
FANTOM5 promoters (19 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62926 | 22.1716 | 1208 |
| 62929 | 11.0081 | 1139 |
| 62928 | 6.5038 | 992 |
| 62933 | 4.3988 | 1371 |
| 62932 | 4.1833 | 1227 |
| 62930 | 1.8474 | 580 |
| 62927 | 1.4003 | 632 |
| 62931 | 0.5781 | 256 |
| 62925 | 0.5683 | 185 |
| 62935 | 0.5483 | 258 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.85 | gold quality |
| paraflocculus | UBERON:0005351 | 99.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.73 | gold quality |
| embryo | UBERON:0000922 | 99.63 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.45 | gold quality |
| tibia | UBERON:0000979 | 99.44 | gold quality |
| ventricular zone | UBERON:0003053 | 99.42 | gold quality |
| cerebellum | UBERON:0002037 | 99.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.37 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.56 | gold quality |
| pons | UBERON:0000988 | 98.14 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.00 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.95 | gold quality |
| frontal pole | UBERON:0002795 | 97.62 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.58 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.54 | gold quality |
| biceps brachii | UBERON:0001507 | 97.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.52 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.28 | gold quality |
| endothelial cell | CL:0000115 | 97.26 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.14 | gold quality |
| adult organism | UBERON:0007023 | 97.11 | gold quality |
| visceral pleura | UBERON:0002401 | 97.06 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.94 | gold quality |
| frontal cortex | UBERON:0001870 | 96.90 | gold quality |
| secondary oocyte | CL:0000655 | 96.88 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.85 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.82 | gold quality |
Single-cell (SCXA)
Detected in 19 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 1280.59 |
| E-MTAB-8221 | yes | 1192.53 |
| E-MTAB-9067 | yes | 837.68 |
| E-CURD-112 | yes | 471.61 |
| E-HCAD-10 | yes | 49.90 |
| E-HCAD-31 | yes | 20.72 |
| E-MTAB-7316 | yes | 12.52 |
| E-MTAB-10042 | yes | 11.18 |
| E-CURD-114 | yes | 10.94 |
| E-GEOD-83139 | yes | 6.78 |
| E-MTAB-9801 | yes | 5.95 |
| E-GEOD-93593 | no | 2510.67 |
| E-MTAB-8894 | no | 1692.38 |
| E-MTAB-9154 | no | 1218.85 |
| E-MTAB-11121 | no | 1061.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
154 targeting NREP, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
Literature-anchored findings (GeneRIF, showing 16)
- role for P311 in inducing TGF-beta1-independent myofibroblast transformation (PMID:12417574)
- These results suggest a role for levels of P311 in regulating glioma motility and invasion through the reorganization of actin cytoskeleton at the cell periphery. (PMID:16229809)
- P311 expression is tightly regulated during the critical periods of alveolar formation, and that under pathologic conditions, its relative absence may contribute to failure of alveolar regeneration and lead to the development of human emphysema. (PMID:16484684)
- P311 may be involved in the pathogenesis of hypertrophic scar via induction of a myofibrobla (PMID:20404911)
- P311 and ITGB4BP expression was elevated in non-small cell lung cancer, possibly indicative of a new signaling pathway. (PMID:21029697)
- Protein HYI may closely bind with protein P311 by an alpha helix in hypertrophic scar fibroblasts. (PMID:22490543)
- P311 may promote the migration of ESCs both in micewith superficial partial-thickness burns and in an injured cell model in vitro, and it may play an important role in wound healing. (PMID:22967977)
- Novel RNA-binding protein P311 binds eIF3b to promote translation of TGF-beta1, TGF-beta2, TGF-beta3. (PMID:25336651)
- P311 plays a key role in renal fibrosis via TGFbeta1/Smad signaling, which could be a novel target for the management of renal fibrosis. (PMID:26616407)
- P311 is a novel TGFbeta1/Smad signaling-mediated regulator of transdifferentiation in epidermal stem cells during cutaneous wound healing. (PMID:27906099)
- P311 could accelerate skin wound reepithelialization by promoting the migration of Epidermal Stem Cell through RhoA and Rac1 activation. (PMID:27927130)
- These studies demonstrate that P311 is required for the production of normal cutaneous scars (PMID:27939132)
- P311 expression in the in the lungs of patients with idiopathic pulmonary fibrosis. (PMID:30230348)
- P311 Promotes IL-4 Receptor-Mediated M2 Polarization of Macrophages to Enhance Angiogenesis for Efficient Skin Wound Healing. (PMID:36309321)
- NREP contributes to development of NAFLD by regulating one-carbon metabolism in primary human hepatocytes. (PMID:37354909)
- H3K18 lactylation promotes the progression of arsenite-related idiopathic pulmonary fibrosis via YTHDF1/m6A/NREP. (PMID:37742376)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Nrep | ENSMUSG00000042834 |
| rattus_norvegicus | Nrep | ENSRNOG00000068914 |
Protein
Protein identifiers
Neuronal regeneration-related protein — Q16612 (reviewed: Q16612)
Alternative names: Neuronal protein 3.1, Protein p311
All UniProt accessions (5): D6R982, Q16612, D6R9Y7, D6REJ5, D6RIC9
UniProt curated annotations — full annotation on UniProt →
Function. May have roles in neural function. Ectopic expression augments motility of gliomas. Also promotes axonal regeneration. May also have functions in cellular differentiation. Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis. Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3. May play a role in the regulation of alveolar generation.
Subunit / interactions. Interacts with the latency-associated peptides (LAP) of TGFB1 and TGFB2; the interaction results in a decrease in TGFB autoinduction. Interacts with FLNA.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in lung (at protein level).
Post-translational modifications. Phosphorylated on Ser-59. Phosphorylation decreases stability and activity.
Induction. Down-regulated in emphysematous lung compared to normal lung.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16612-1 | 1 | yes |
| Q16612-2 | 2 |
RefSeq proteins (11): NP_001135946, NP_001135947, NP_001135948, NP_001135949, NP_001135950, NP_001135951, NP_001135952, NP_001135953, NP_001135954, NP_001135955, NP_004763* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024417 | Neuronal_3.1 | Family |
Pfam: PF11092
UniProt features (8 total): mutagenesis site 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16612-F1 | 67.60 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 59
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 59 | reduces protein degradation and induces glioma cell migration. |
| 59 | accelerates protein degradation and reduces glioma cell migration. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 351 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, AAGCAAT_MIR137, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGENERATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, MEF2_02, GOBP_RESPONSE_TO_AXON_INJURY, LHX3_01, GGGTGGRR_PAX4_03
GO Biological Process (3): regulation of transforming growth factor beta receptor signaling pathway (GO:0017015), axon regeneration (GO:0031103), regulation of neuron differentiation (GO:0045664)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regulation of cellular response to transforming growth factor beta stimulus | 1 |
| neuron projection regeneration | 1 |
| response to axon injury | 1 |
| axon development | 1 |
| neuron differentiation | 1 |
| regulation of cell differentiation | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
448 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NREP | MT2A | P02795 | 557 |
| NREP | EIF3B | P55884 | 529 |
| NREP | C1orf74 | Q96LT6 | 495 |
| NREP | H3BSS0 | H3BSS0 | 468 |
| NREP | RNF44 | Q7L0R7 | 435 |
| NREP | RNF38 | Q9H0F5 | 400 |
| NREP | PLXDC2 | Q6UX71 | 400 |
| NREP | TGFBR2 | P37173 | 380 |
| NREP | USP54 | Q70EL1 | 373 |
| NREP | C19orf67 | A6NJJ6 | 371 |
| NREP | ZSWIM8 | A7E2V4 | 371 |
| NREP | PCNX2 | A6NKB5 | 369 |
| NREP | PLSCR4 | Q9NRQ2 | 352 |
| NREP | CRLS1 | Q9UJA2 | 352 |
| NREP | EPB41L4A | Q9HCS5 | 349 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF6 | NREP | psi-mi:“MI:0915”(physical association) | 0.630 |
| NREP | EIF6 | psi-mi:“MI:0915”(physical association) | 0.630 |
| NREP | EIF6 | psi-mi:“MI:0403”(colocalization) | 0.630 |
| NREP | EEF1A1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KMT2B | NREP | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATM | NREP | psi-mi:“MI:0915”(physical association) | 0.370 |
| NREP | IGSF21 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): NREP (Two-hybrid), IGSF21 (Two-hybrid), MYH9 (Affinity Capture-MS), ACTB (Affinity Capture-MS), EIF3B (Affinity Capture-MS), FLNA (Affinity Capture-MS), GDI2 (Affinity Capture-MS), RAB7A (Affinity Capture-MS), EIF3G (Affinity Capture-MS), RPS13 (Affinity Capture-MS), RBMX (Affinity Capture-MS), NREP (Affinity Capture-Western), NREP (Reconstituted Complex), EIF3B (Reconstituted Complex), NREP (Affinity Capture-RNA)
ESM2 similar proteins: A0A1B0GUQ0, A0A1B0GV22, A4WGH3, A5WBB8, A8A6G6, B1IX34, B1X9T3, B5BIL7, B5QUQ3, B5RFY4, B7L848, B7LK47, B7M557, B7MGC6, B7N2F0, B7NF22, B7NR07, B8MYS5, C0Q2L2, C4ZYY2, O71190, O83770, P03167, P03168, P05443, P0A8C8, P0A8C9, P0C304, P0C305, P12173, P12478, P20464, P53231, P61468, P61472, Q16612, Q1R4N0, Q31UV8, Q329B3, Q3SSW2
Diamond homologs: Q07475, Q16612, Q4R541, Q5NVD3, Q80Z34, Q90667
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCE | “down-regulates quantity by destabilization” | NREP | phosphorylation |
| PRKCZ | “down-regulates quantity by destabilization” | NREP | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2385 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:111731065:C:CT | acceptor_gain | 1.0000 |
| 5:111731065:C:T | acceptor_gain | 1.0000 |
| 5:111735423:ATCTT:A | donor_loss | 1.0000 |
| 5:111735424:TCTTA:T | donor_loss | 1.0000 |
| 5:111735425:CTTAC:C | donor_loss | 1.0000 |
| 5:111735426:TTAC:T | donor_loss | 1.0000 |
| 5:111735427:TACCT:T | donor_loss | 1.0000 |
| 5:111735428:A:AG | donor_loss | 1.0000 |
| 5:111735503:TAAAC:T | acceptor_gain | 1.0000 |
| 5:111735507:CCTA:C | acceptor_loss | 1.0000 |
| 5:111735508:C:CC | acceptor_gain | 1.0000 |
| 5:111735509:T:G | acceptor_loss | 1.0000 |
| 5:111926540:T:TA | donor_gain | 1.0000 |
| 5:111731042:CTTCC:C | acceptor_gain | 0.9900 |
| 5:111731044:TCC:T | acceptor_gain | 0.9900 |
| 5:111731045:CCC:C | acceptor_gain | 0.9900 |
| 5:111731067:C:CT | acceptor_gain | 0.9900 |
| 5:111731069:C:CT | acceptor_gain | 0.9900 |
| 5:111731071:C:CT | acceptor_gain | 0.9900 |
| 5:111732871:A:C | donor_gain | 0.9900 |
| 5:111735428:A:AC | donor_gain | 0.9900 |
| 5:111735429:C:CC | donor_gain | 0.9900 |
| 5:111914107:A:AC | donor_gain | 0.9900 |
| 5:111914108:C:CC | donor_gain | 0.9900 |
| 5:111926541:C:A | donor_gain | 0.9900 |
| 5:111997320:ATAC:A | donor_loss | 0.9900 |
| 5:111997321:TACCT:T | donor_loss | 0.9900 |
| 5:111997323:C:CA | donor_loss | 0.9900 |
| 5:111731043:TTCC:T | acceptor_gain | 0.9800 |
| 5:111731045:CC:C | acceptor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000006715 (5:111753265 C>T), RS1000008558 (5:111790622 G>A,T), RS1000031900 (5:111871070 G>GTGTC), RS1000044006 (5:111772797 T>C), RS1000055706 (5:111904009 C>G,T), RS1000062076 (5:111914990 T>C), RS1000066471 (5:111865896 A>G), RS1000086468 (5:111762171 A>G), RS1000091534 (5:111917364 C>T), RS1000091950 (5:111753706 G>A), RS1000116097 (5:111812227 C>A,T), RS1000119823 (5:111827869 A>AG), RS1000132966 (5:111910339 T>G), RS1000135139 (5:111945901 C>T), RS1000140056 (5:111865438 G>A,T)
Disease associations
OMIM: gene MIM:607332 | disease phenotypes: MIM:192350
GenCC curated gene-disease
Mondo (1): VACTERL/vater association (MONDO:0008642)
Orphanet (1): VACTERL/VATER association (Orphanet:887)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_458 | Obesity-related traits | 8.000000e-06 |
| GCST002875_171 | Diisocyanate-induced asthma | 2.000000e-06 |
| GCST003542_54 | Night sleep phenotypes | 4.000000e-06 |
| GCST004144_8 | Thyroid cancer | 3.000000e-10 |
| GCST004603_6 | Platelet count | 1.000000e-15 |
| GCST004607_236 | Plateletcrit | 4.000000e-30 |
| GCST004862_143 | Itch intensity from mosquito bite adjusted by bite size | 5.000000e-06 |
| GCST004862_190 | Itch intensity from mosquito bite adjusted by bite size | 4.000000e-06 |
| GCST004862_218 | Itch intensity from mosquito bite adjusted by bite size | 3.000000e-06 |
| GCST004988_635 | Breast cancer | 4.000000e-09 |
| GCST005993_5 | Mean corpuscular hemoglobin | 8.000000e-13 |
| GCST005996_46 | Red blood cell count | 1.000000e-09 |
| GCST006268_507 | Reaction time | 2.000000e-08 |
| GCST009375_9 | Mosaic loss of chromosome Y (Y chromosome dosage) | 3.000000e-15 |
| GCST010241_340 | Apolipoprotein A1 levels | 4.000000e-08 |
| GCST012032_4 | Platelet count | 1.000000e-07 |
| GCST90002383_211 | Hematocrit | 9.000000e-10 |
| GCST90002383_212 | Hematocrit | 6.000000e-11 |
| GCST90002390_137 | Mean corpuscular hemoglobin | 8.000000e-16 |
| GCST90002392_636 | Mean corpuscular volume | 8.000000e-17 |
| GCST90002395_456 | Mean platelet volume | 1.000000e-13 |
| GCST90002396_309 | Mean reticulocyte volume | 1.000000e-14 |
| GCST90002397_46 | Mean spheric corpuscular volume | 4.000000e-16 |
| GCST90002400_647 | Plateletcrit | 8.000000e-65 |
| GCST90002402_780 | Platelet count | 2.000000e-32 |
| GCST90002403_409 | Red blood cell count | 2.000000e-12 |
| GCST90002403_410 | Red blood cell count | 5.000000e-10 |
| GCST90007007_5 | Gut microbiota relative abundance (Sutterella) | 9.000000e-06 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
| EFO:0008393 | reaction time measurement |
| EFO:0007783 | mosaic loss of chromosome Y measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004348 | hematocrit |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
90 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression, affects cotreatment | 4 |
| bisphenol A | affects expression, affects cotreatment, decreases methylation, decreases expression | 3 |
| cobaltous chloride | decreases expression | 3 |
| nickel sulfate | decreases expression | 3 |
| Estradiol | affects expression, affects cotreatment, increases expression, decreases expression | 3 |
| Silicon Dioxide | decreases expression | 3 |
| Cyclosporine | decreases expression, decreases methylation | 3 |
| sulforaphane | decreases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Zoledronic Acid | increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Arsenic | increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, decreases expression | 2 |
| Doxorubicin | affects response to substance, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Asbestos, Crocidolite | decreases expression | 2 |
| Cadmium Chloride | affects expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| tobacco tar | decreases expression, decreases reaction | 1 |
| didecyldimethylammonium | decreases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03799705 | Not specified | COMPLETED | Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): thyroid gland carcinoma, VACTERL/vater association