RETREG2
gene geneOn this page
Also known as MGC3035MAG-2
Summary
RETREG2 (reticulophagy regulator family member 2, HGNC:28450) is a protein-coding gene on chromosome 2q35, encoding Reticulophagy regulator 2 (Q8NC44). Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress.
Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Predicted to be involved in autophagy. Predicted to act upstream of or within collagen catabolic process; endoplasmic reticulum organization; and reticulophagy. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane.
Source: NCBI Gene 79137 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 94 total — 1 pathogenic
- MANE Select transcript:
NM_024293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28450 |
| Approved symbol | RETREG2 |
| Name | reticulophagy regulator family member 2 |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3035, MAG-2 |
| Ensembl gene | ENSG00000144567 |
| Ensembl biotype | protein_coding |
| Entrez | 79137 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000273048, ENST00000420189, ENST00000430297, ENST00000430747, ENST00000443757, ENST00000452022, ENST00000452293, ENST00000458520, ENST00000465672, ENST00000481925, ENST00000934281
RefSeq mRNA: 3 — MANE Select: NM_024293
NM_001321109, NM_001321110, NM_024293
CCDS: CCDS2434
Canonical transcript exons
ENST00000430297 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001654336 | 219182013 | 219185475 |
| ENSE00001791238 | 219178275 | 219178633 |
| ENSE00003460368 | 219180110 | 219180245 |
| ENSE00003475059 | 219180670 | 219180754 |
| ENSE00003512374 | 219179733 | 219179763 |
| ENSE00003528364 | 219181369 | 219181463 |
| ENSE00003612593 | 219178922 | 219179028 |
| ENSE00003618199 | 219181062 | 219181205 |
| ENSE00003634182 | 219181640 | 219181775 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.5383 / max 356.9954, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25426 | 21.5224 | 1814 |
| 25425 | 15.9045 | 1803 |
| 25427 | 0.1114 | 40 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.92 | gold quality |
| left testis | UBERON:0004533 | 98.82 | gold quality |
| right testis | UBERON:0004534 | 98.75 | gold quality |
| endothelial cell | CL:0000115 | 98.59 | gold quality |
| male germ cell | CL:0000015 | 98.57 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.55 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.33 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.28 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.23 | gold quality |
| cerebellum | UBERON:0002037 | 98.15 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.15 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.02 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.96 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.77 | gold quality |
| testis | UBERON:0000473 | 97.75 | gold quality |
| frontal cortex | UBERON:0001870 | 97.75 | gold quality |
| adult organism | UBERON:0007023 | 97.70 | gold quality |
| neocortex | UBERON:0001950 | 97.66 | gold quality |
| occipital lobe | UBERON:0002021 | 97.54 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.39 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.39 | gold quality |
| cortical plate | UBERON:0005343 | 97.19 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.14 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.09 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.08 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.05 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.93 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.38 |
| E-CURD-112 | yes | 4.33 |
| E-GEOD-75367 | no | 383.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting RETREG2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
Literature-anchored findings (GeneRIF, showing 2)
- MAG-2 may be a novel causal gene for lung cancer invasion and metastasis. (PMID:19212629)
- Depleting the endoplasmic reticulum-localized protein FAM134A impairs mitotic progression by affecting metaphase plate alignment and pressure generation by delocalizing cortical myosin II. (PMID:29097687)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Retreg2 | ENSMUSG00000049339 |
| rattus_norvegicus | Retreg2 | ENSRNOG00000018586 |
Protein
Protein identifiers
Reticulophagy regulator 2 — Q8NC44 (reviewed: Q8NC44)
All UniProt accessions (6): Q8NC44, C9J3K5, C9JIF3, F8WAL5, F8WE68, H7C3D5
UniProt curated annotations — full annotation on UniProt →
Function. Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress. When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins. Required for collagen quality control in a LIR motif-independent manner.
Subunit / interactions. Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2. Shows higher affinity for GABARAPL1 than for MAP1LC3B. Interacts with CANX.
Subcellular location. Endoplasmic reticulum membrane.
Domain organisation. The LIR motif interacts with ATG8 family proteins.
Similarity. Belongs to the RETREG family.
RefSeq proteins (3): NP_001308038, NP_001308039, NP_077269* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR052114 | ER_autophagy_membrane_reg | Family |
| IPR055257 | RETR2_RHD | Domain |
| IPR057282 | RETREG1-3-like_RHD | Domain |
Pfam: PF24456
UniProt features (27 total): modified residue 10, compositionally biased region 4, region of interest 4, transmembrane region 3, sequence variant 2, chain 1, mutagenesis site 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6EWC | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NC44-F1 | 59.84 | 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 (10): 279, 281, 283, 291, 311, 334, 337, 344, 347, 385
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 492–495 | abolishes interaction with atg8 family proteins, induction of er fragmentation and er degradation. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 205 (showing top):
GOBP_VACUOLE_ORGANIZATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, FOXO4_01, GOBP_MACROAUTOPHAGY, FREAC3_01, USF_01, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, HFH4_01, GOBP_ORGANELLE_ASSEMBLY, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, ACTTTAT_MIR1425P, NRF2_01, GCM_NF2, LIU_CMYB_TARGETS_UP, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION
GO Biological Process (5): endoplasmic reticulum organization (GO:0007029), collagen catabolic process (GO:0030574), reticulophagy (GO:0061709), autophagy (GO:0006914), substrate localization to autophagosome (GO:0061753)
GO Molecular Function (2): endoplasmic reticulum-autophagosome adaptor activity (GO:0140506), protein binding (GO:0005515)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| catabolic process | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| collagen metabolic process | 1 |
| macroautophagy | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagosome assembly | 1 |
| establishment of localization in cell | 1 |
| autophagosome-membrane adaptor activity | 1 |
| endoplasmic reticulum-organelle membrane tether activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1316 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RETREG2 | GABARAP | O95166 | 781 |
| RETREG2 | ARHGAP1 | Q07960 | 598 |
| RETREG2 | TEX264 | Q9Y6I9 | 509 |
| RETREG2 | SEC62 | Q99442 | 470 |
| RETREG2 | F5GZY7 | F5GZY7 | 458 |
| RETREG2 | GABARAPL2 | P60520 | 450 |
| RETREG2 | CCPG1 | Q9ULG6 | 448 |
| RETREG2 | F5H6H0 | F5H6H0 | 434 |
| RETREG2 | RTN3 | O95197 | 395 |
| RETREG2 | DPY19L4 | Q7Z388 | 368 |
| RETREG2 | ATL3 | Q6DD88 | 359 |
| RETREG2 | SHISAL2A | Q6UWV7 | 359 |
| RETREG2 | VCF1 | Q969W3 | 346 |
| RETREG2 | CD300C | Q08708 | 316 |
| RETREG2 | SLC33A1 | O00400 | 308 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RETREG2 | MAP1LC3B | psi-mi:“MI:0915”(physical association) | 0.570 |
| MAP1LC3B | RETREG2 | psi-mi:“MI:0915”(physical association) | 0.570 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR52 | SYNGR2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZDHHC11 | APOB | psi-mi:“MI:0914”(association) | 0.530 |
| STS | GJA1 | psi-mi:“MI:0914”(association) | 0.530 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| MAP1LC3A | RETREG2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RETREG2 | GABARAPL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RETREG2 | GABARAP | psi-mi:“MI:0915”(physical association) | 0.400 |
| Retreg2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| RETREG2 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| YIPF3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GRPR | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| PVR | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| NBAS | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARL6IP1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLTA | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| HCST | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN31 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| GPR52 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (59): ATP5A1 (Affinity Capture-MS), ATP5F1 (Affinity Capture-MS), ATP5J (Affinity Capture-MS), ATP5O (Affinity Capture-MS), EIF5A (Affinity Capture-MS), GOLGA3 (Affinity Capture-MS), ABCD3 (Affinity Capture-MS), PRDX2 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), CHD1L (Affinity Capture-MS), ATP5H (Affinity Capture-MS), HPSE (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), SLC25A19 (Affinity Capture-MS), FAM134A (Affinity Capture-MS)
ESM2 similar proteins: A2A8U2, A4D2P6, A4IG66, A7MCY6, B5DF41, D4AE48, O15079, O75129, O97676, P12755, P36956, P53349, P56720, P85299, Q0QWG9, Q1JPG0, Q3B7M3, Q3MHU5, Q3TPJ7, Q3U0L2, Q504T8, Q50H33, Q5FVG6, Q5SNT2, Q60416, Q60698, Q66K64, Q6DVA0, Q6NS60, Q6NS82, Q6ZWB6, Q7L4E1, Q80U23, Q80U62, Q80Z10, Q812A5, Q86V42, Q86XL3, Q8C0R7, Q8CC12
Diamond homologs: Q0P4Z1, Q3MHU5, Q5E9K8, Q5FVM3, Q6NS82, Q86VR2, Q8NC44, Q8VE91, Q9CQV4, Q9H6L5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 45 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitophagy | 5 | 37.0× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 58844 | GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 | Pathogenic |
SpliceAI
1497 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:219176756:TCA:T | donor_loss | 1.0000 |
| 2:219176757:CACC:C | donor_loss | 1.0000 |
| 2:219176758:A:AC | donor_gain | 1.0000 |
| 2:219176758:AC:A | donor_gain | 1.0000 |
| 2:219176758:ACCGT:A | donor_loss | 1.0000 |
| 2:219176759:C:CC | donor_gain | 1.0000 |
| 2:219176759:CC:C | donor_gain | 1.0000 |
| 2:219176759:CCGTG:C | donor_gain | 1.0000 |
| 2:219179029:GTGA:G | donor_loss | 1.0000 |
| 2:219179731:A:AG | acceptor_gain | 1.0000 |
| 2:219179732:G:GG | acceptor_gain | 1.0000 |
| 2:219179732:GC:G | acceptor_gain | 1.0000 |
| 2:219180755:G:GG | donor_gain | 1.0000 |
| 2:219181060:A:AG | acceptor_gain | 1.0000 |
| 2:219181061:G:GG | acceptor_gain | 1.0000 |
| 2:219181086:T:TA | acceptor_gain | 1.0000 |
| 2:219181201:GAGGA:G | donor_gain | 1.0000 |
| 2:219181203:G:GT | donor_gain | 1.0000 |
| 2:219181203:GGA:G | donor_gain | 1.0000 |
| 2:219181204:GA:G | donor_gain | 1.0000 |
| 2:219181204:GAG:G | donor_gain | 1.0000 |
| 2:219181206:G:GG | donor_gain | 1.0000 |
| 2:219181461:GTG:G | donor_gain | 1.0000 |
| 2:219181609:C:G | acceptor_gain | 1.0000 |
| 2:219181611:T:G | acceptor_gain | 1.0000 |
| 2:219181621:ATCCT:A | acceptor_gain | 1.0000 |
| 2:219181625:T:TA | acceptor_gain | 1.0000 |
| 2:219181634:T:TA | acceptor_gain | 1.0000 |
| 2:219181636:CCAGG:C | acceptor_loss | 1.0000 |
| 2:219181637:CAG:C | acceptor_loss | 1.0000 |
AlphaMissense
3447 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:219181067:A:C | S216R | 1.000 |
| 2:219181069:T:A | S216R | 1.000 |
| 2:219181069:T:G | S216R | 1.000 |
| 2:219178578:T:A | W76R | 0.999 |
| 2:219178578:T:C | W76R | 0.999 |
| 2:219180227:G:C | K179N | 0.999 |
| 2:219180227:G:T | K179N | 0.999 |
| 2:219180715:G:A | G201R | 0.999 |
| 2:219180715:G:C | G201R | 0.999 |
| 2:219180716:G:A | G201E | 0.999 |
| 2:219180725:T:A | V204D | 0.999 |
| 2:219181079:T:A | W220R | 0.999 |
| 2:219181079:T:C | W220R | 0.999 |
| 2:219181082:C:A | P221T | 0.999 |
| 2:219181082:C:T | P221S | 0.999 |
| 2:219181083:C:A | P221H | 0.999 |
| 2:219181083:C:G | P221R | 0.999 |
| 2:219181140:T:C | L240P | 0.999 |
| 2:219181670:G:C | A304P | 0.999 |
| 2:219181674:T:A | I305N | 0.999 |
| 2:219181674:T:C | I305T | 0.999 |
| 2:219181674:T:G | I305S | 0.999 |
| 2:219181677:C:T | T306I | 0.999 |
| 2:219181680:A:T | D307V | 0.999 |
| 2:219178580:G:C | W76C | 0.998 |
| 2:219178580:G:T | W76C | 0.998 |
| 2:219178596:A:C | S82R | 0.998 |
| 2:219178598:C:A | S82R | 0.998 |
| 2:219178598:C:G | S82R | 0.998 |
| 2:219180670:T:C | F186L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000345599 (2:219180999 G>A,C), RS1000748974 (2:219184784 A>C,G), RS1001202666 (2:219185105 G>A,T), RS1001287169 (2:219180975 T>G), RS1001401915 (2:219181945 A>T), RS1002407603 (2:219183333 ACT>A), RS1002962446 (2:219182259 G>T), RS1003268353 (2:219183067 C>A,G,T), RS1003270513 (2:219179255 T>A), RS1003309404 (2:219183352 T>C), RS1003447924 (2:219178090 C>A,G,T), RS1003821548 (2:219177824 C>A), RS1003824102 (2:219177779 A>G), RS1004064772 (2:219177978 A>C,G), RS1004336454 (2:219183319 T>C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004625_58 | Monocyte count | 5.000000e-11 |
| GCST012226_198 | Waist circumference adjusted for body mass index | 1.000000e-08 |
| GCST90002389_4 | Lymphocyte percentage of white cells | 9.000000e-13 |
| GCST90002398_116 | Neutrophil count | 1.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005091 | monocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Vehicle Emissions | increases abundance, decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Phenylmercuric Acetate | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Selenium | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
15 cell lines: 15 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1IB | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- | Embryonic stem cell | Female |
| CVCL_D1IC | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- | Embryonic stem cell | Female |
| CVCL_D1ID | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- | Embryonic stem cell | Female |
| CVCL_D1IE | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- | Embryonic stem cell | Female |
| CVCL_D1IG | H9 AAVS1-TRE3G-NGN2 RETREG2-/- | Embryonic stem cell | Female |
| CVCL_D1IR | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IS | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IT | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IU | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IV | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- Keima-RAMP4 | Embryonic stem cell | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.