CDC123
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Also known as D123
Summary
CDC123 (cell division cycle 123, HGNC:16827) is a protein-coding gene on chromosome 10p14-p13, encoding Translation initiation factor eIF2 assembly protein (O75794). ATP-dependent protein-folding chaperone for the eIF2 complex. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm.
Source: NCBI Gene 8872 — RefSeq curated summary.
At a glance
- GWAS associations: 67
- Clinical variants (ClinVar): 73 total
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_006023
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16827 |
| Approved symbol | CDC123 |
| Name | cell division cycle 123 |
| Location | 10p14-p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D123 |
| Ensembl gene | ENSG00000151465 |
| Ensembl biotype | protein_coding |
| OMIM | 617708 |
| Entrez | 8872 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 19 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000281141, ENST00000378900, ENST00000429258, ENST00000440613, ENST00000442050, ENST00000455773, ENST00000467016, ENST00000497963, ENST00000498747, ENST00000900296, ENST00000900297, ENST00000900298, ENST00000932716, ENST00000932717, ENST00000932718, ENST00000932719, ENST00000932720, ENST00000932721, ENST00000932722, ENST00000932723, ENST00000932724, ENST00000932725, ENST00000932726
RefSeq mRNA: 1 — MANE Select: NM_006023
NM_006023
CCDS: CCDS7090
Canonical transcript exons
ENST00000281141 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000999748 | 12196188 | 12196319 |
| ENSE00001760477 | 12250311 | 12250589 |
| ENSE00003466501 | 12209967 | 12210024 |
| ENSE00003505149 | 12210290 | 12210322 |
| ENSE00003517660 | 12246149 | 12246277 |
| ENSE00003529375 | 12230948 | 12230996 |
| ENSE00003529580 | 12198705 | 12198776 |
| ENSE00003581074 | 12249581 | 12249718 |
| ENSE00003583673 | 12237144 | 12237266 |
| ENSE00003596966 | 12238457 | 12238485 |
| ENSE00003600398 | 12235048 | 12235123 |
| ENSE00003630299 | 12215740 | 12215835 |
| ENSE00003651605 | 12217361 | 12217467 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 96.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.6544 / max 598.3145, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103910 | 48.6205 | 1822 |
| 103909 | 2.2842 | 1404 |
| 103912 | 0.3872 | 172 |
| 103908 | 0.3625 | 190 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 96.30 | gold quality |
| cortical plate | UBERON:0005343 | 96.11 | gold quality |
| secondary oocyte | CL:0000655 | 96.04 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.95 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.93 | gold quality |
| ventricular zone | UBERON:0003053 | 95.78 | gold quality |
| embryo | UBERON:0000922 | 95.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.71 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.53 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.42 | gold quality |
| monocyte | CL:0000576 | 95.40 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.22 | gold quality |
| mononuclear cell | CL:0000842 | 95.21 | gold quality |
| leukocyte | CL:0000738 | 95.18 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.14 | gold quality |
| nasopharynx | UBERON:0001728 | 95.12 | gold quality |
| oocyte | CL:0000023 | 95.00 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.97 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.83 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.82 | gold quality |
| lymph node | UBERON:0000029 | 94.79 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.76 | gold quality |
| left coronary artery | UBERON:0001626 | 94.73 | gold quality |
| right coronary artery | UBERON:0001625 | 94.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.61 | gold quality |
| heart | UBERON:0000948 | 94.57 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.56 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.55 | gold quality |
| myocardium | UBERON:0002349 | 94.55 | gold quality |
| skin of leg | UBERON:0001511 | 94.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.88 |
| E-CURD-88 | yes | 4.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting CDC123, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-2115-3P | 99.31 | 69.68 | 2026 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-1470 | 98.11 | 63.53 | 399 |
| HSA-MIR-219B-5P | 97.91 | 65.80 | 531 |
| HSA-MIR-3156-5P | 96.93 | 67.36 | 800 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- A significant association of rs10906115 in CDC123/CAMK1D and rs1359790 near SPRY2 was identified with type 2 diabetes in a Japanese population. (PMID:21909839)
- Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1). (PMID:22923468)
- CDC123 may have a role in novel protein modifications (PMID:25976611)
- There were no statistically significant differences in the distribution of CDC123/CAMK1D rs12779790 genotypes and alleles between women with gestational diabetes mellitus and healthy pregnant women. (PMID:28079868)
- USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. (PMID:37314216)
- Binding of human Cdc123 to eIF2gamma. (PMID:37507029)
- CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1. (PMID:38237400)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdc123 | ENSDARG00000075025 |
| mus_musculus | Cdc123 | ENSMUSG00000039128 |
| rattus_norvegicus | Cdc123 | ENSRNOG00000017770 |
Protein
Protein identifiers
Translation initiation factor eIF2 assembly protein — O75794 (reviewed: O75794)
Alternative names: Cell division cycle protein 123 homolog, HT-1080, PZ32
All UniProt accessions (5): O75794, H7BZW7, X6RA30, X6RF82, X6RKY7
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent protein-folding chaperone for the eIF2 complex. Binds to the gamma subunit of the eIF2 complex which allows the subunit to assemble with the alpha and beta subunits.
Subunit / interactions. Interacts with the eIF2 complex gamma subunit EIF2S3 (via C-terminus); the interaction is direct. Interacts with the eIF2 complex alpha subunit EIF2S1. Interacts with the eIF2 complex beta subunit EIF2S2.
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes with the highest expression in testis.
Similarity. Belongs to the CDC123 family.
RefSeq proteins (1): NP_006014* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009772 | CDC123 | Family |
Pfam: PF07065
UniProt features (49 total): binding site 16, helix 14, strand 10, turn 3, mutagenesis site 2, sequence conflict 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8PHV | X-RAY DIFFRACTION | 1.97 |
| 8PHD | X-RAY DIFFRACTION | 2.08 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75794-F1 | 84.82 | 0.64 |
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 (16): 104; 179; 193; 233; 246; 246; 248; 248; 107; 109; 111; 167 …
Post-translational modifications (1): 60
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 233 | severely disrupts assembly factor activity. |
| 246 | severely disrupts assembly factor activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 175 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MORF_HDAC1, MORF_UBE2N, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, MORF_SKP1A, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, SCHLOSSER_SERUM_RESPONSE_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP
GO Biological Process (2): eukaryotic translation initiation factor 2 complex assembly (GO:1905143), protein folding (GO:0006457)
GO Molecular Function (6): magnesium ion binding (GO:0000287), ATP binding (GO:0005524), protein folding chaperone (GO:0044183), nucleotide binding (GO:0000166), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-containing complex assembly | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| metal ion binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1448 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDC123 | CAMK1D | Q8IU85 | 873 |
| CDC123 | JAZF1 | Q86VZ6 | 820 |
| CDC123 | CDKAL1 | Q5VV42 | 780 |
| CDC123 | TSPAN8 | P19075 | 720 |
| CDC123 | HHEX | Q03014 | 720 |
| CDC123 | ADAMTS9 | Q9P2N4 | 720 |
| CDC123 | SLC30A8 | Q8IWU4 | 719 |
| CDC123 | EIF2S3 | P41091 | 705 |
| CDC123 | IGF2BP2 | Q9Y6M1 | 670 |
| CDC123 | WFS1 | O76024 | 668 |
| CDC123 | MTNR1B | P49286 | 668 |
| CDC123 | TCF7L2 | Q9NQB0 | 659 |
| CDC123 | KCNQ1 | P51787 | 644 |
| CDC123 | KCNJ11 | Q14654 | 644 |
| CDC123 | C2CD4A | Q8NCU7 | 621 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED17 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| EIF2S3 | CDC123 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| CDC123 | EIF2S3 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| EIF2S2 | CDC123 | psi-mi:“MI:0914”(association) | 0.710 |
| CDC123 | EIF2S2 | psi-mi:“MI:0914”(association) | 0.710 |
| CDC123 | EIF2S2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| TGIF2LY | PGP | psi-mi:“MI:0914”(association) | 0.640 |
| HLA-DRA | ENTPD6 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| OIP5 | CYTH3 | psi-mi:“MI:0914”(association) | 0.530 |
| SUI2 | CDC123 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CDC123 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| CDC123 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EIF2S1 | CDC123 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPB1 | CDC123 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDC123 | ZNF512B | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| EIF2S3 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| EIF5 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| EIF2S2 | TOR1B | psi-mi:“MI:0914”(association) | 0.350 |
| CDC123 | CLTCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| FCGRT | WBP4 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC123 | SUI3 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM111A | DFFA | psi-mi:“MI:0914”(association) | 0.350 |
| GJA1 | CDC123 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (1869): GCD11 (Two-hybrid), CDC123 (Affinity Capture-MS), CDC123 (Two-hybrid), CDC123 (Proximity Label-MS), CDC123 (Proximity Label-MS), CDC123 (Proximity Label-MS), CDC123 (Proximity Label-MS), CDC123 (Proximity Label-MS), CDC123 (Affinity Capture-MS), CDC123 (Affinity Capture-MS), CDC123 (Affinity Capture-RNA), CDC123 (Affinity Capture-MS), CDC123 (Affinity Capture-MS), CDC123 (Affinity Capture-MS), CDC123 (Reconstituted Complex)
ESM2 similar proteins: A2Z4C5, A7X672, A7X680, B0K012, B8AJL9, B8AR41, B9SQI7, E0CSI1, O08848, O75794, O81770, O82730, P0C0T1, P10155, P42694, P57060, P93115, Q0J035, Q10PL5, Q13572, Q1PET6, Q28559, Q2PG37, Q2R483, Q2YDG3, Q33BI9, Q3U2J5, Q5F477, Q5F480, Q5R9U9, Q62834, Q69QJ7, Q6AY91, Q6DFV5, Q75GI4, Q7SY78, Q80YV4, Q8BYN3, Q8CII2, Q8LB01
Diamond homologs: A1CMB9, A1DLP3, A2R4R1, A5E3J7, A6R687, A6SDA8, A7A1A3, A7EUE6, A7RFT2, A7TPB3, O75794, Q05791, Q0CH08, Q0V340, Q2PG37, Q2U988, Q2YDG3, Q4WDA4, Q5AFX2, Q5AYN6, Q5BKN5, Q62834, Q641C9, Q6C101, Q6CL84, Q6FNU7, Q6PC40, Q75A37, Q75JF9, Q8CII2, Q9P7N5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2453 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:12198703:A:AG | acceptor_gain | 1.0000 |
| 10:12198704:G:GC | acceptor_gain | 1.0000 |
| 10:12198704:GT:G | acceptor_gain | 1.0000 |
| 10:12198704:GTGT:G | acceptor_gain | 1.0000 |
| 10:12198704:GTGTC:G | acceptor_gain | 1.0000 |
| 10:12198772:GGAAG:G | donor_gain | 1.0000 |
| 10:12198773:G:GT | donor_gain | 1.0000 |
| 10:12198774:A:T | donor_gain | 1.0000 |
| 10:12209965:A:AG | acceptor_gain | 1.0000 |
| 10:12209965:AG:A | acceptor_gain | 1.0000 |
| 10:12209966:G:GG | acceptor_gain | 1.0000 |
| 10:12209966:GG:G | acceptor_gain | 1.0000 |
| 10:12215776:G:GT | donor_gain | 1.0000 |
| 10:12215834:GG:G | donor_gain | 1.0000 |
| 10:12215835:GG:G | donor_gain | 1.0000 |
| 10:12215846:A:AG | donor_gain | 1.0000 |
| 10:12215846:A:G | donor_gain | 1.0000 |
| 10:12215850:G:GG | donor_gain | 1.0000 |
| 10:12217002:A:T | donor_gain | 1.0000 |
| 10:12217463:CAGCC:C | donor_gain | 1.0000 |
| 10:12217464:AGCC:A | donor_gain | 1.0000 |
| 10:12217465:GCC:G | donor_gain | 1.0000 |
| 10:12217465:GCCG:G | donor_gain | 1.0000 |
| 10:12217466:CC:C | donor_gain | 1.0000 |
| 10:12217466:CCGTA:C | donor_loss | 1.0000 |
| 10:12217467:CGTA:C | donor_loss | 1.0000 |
| 10:12217468:G:GG | donor_gain | 1.0000 |
| 10:12217469:TAA:T | donor_loss | 1.0000 |
| 10:12235039:T:TA | acceptor_gain | 1.0000 |
| 10:12235042:TTACA:T | acceptor_loss | 1.0000 |
AlphaMissense
2271 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:12217370:T:A | W115R | 1.000 |
| 10:12217370:T:C | W115R | 1.000 |
| 10:12217437:C:T | S137F | 1.000 |
| 10:12217364:G:C | A113P | 0.999 |
| 10:12217365:C:A | A113E | 0.999 |
| 10:12217433:A:C | S136R | 0.999 |
| 10:12217435:T:A | S136R | 0.999 |
| 10:12217435:T:G | S136R | 0.999 |
| 10:12217437:C:A | S137Y | 0.999 |
| 10:12235058:G:C | R167P | 0.999 |
| 10:12235094:G:C | R179P | 0.999 |
| 10:12235103:T:A | V182D | 0.999 |
| 10:12196285:T:A | W14R | 0.998 |
| 10:12196285:T:C | W14R | 0.998 |
| 10:12196318:A:C | S25R | 0.998 |
| 10:12198705:T:A | S25R | 0.998 |
| 10:12198705:T:G | S25R | 0.998 |
| 10:12215771:T:A | V90D | 0.998 |
| 10:12215810:C:A | P103H | 0.998 |
| 10:12215814:G:C | K104N | 0.998 |
| 10:12215814:G:T | K104N | 0.998 |
| 10:12215816:T:C | L105P | 0.998 |
| 10:12215821:T:A | W107R | 0.998 |
| 10:12215821:T:C | W107R | 0.998 |
| 10:12215831:C:A | P110Q | 0.998 |
| 10:12215831:C:G | P110R | 0.998 |
| 10:12217361:G:C | D112H | 0.998 |
| 10:12217372:G:C | W115C | 0.998 |
| 10:12217372:G:T | W115C | 0.998 |
| 10:12217374:T:A | I116K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000007864 (10:12233967 TAGTG>T), RS1000094391 (10:12217055 C>T), RS1000114906 (10:12227817 A>C), RS1000126099 (10:12230843 T>A,C,G), RS1000167002 (10:12239118 G>A), RS1000234817 (10:12194378 T>C), RS1000276893 (10:12196593 T>C), RS1000289386 (10:12248465 T>C), RS1000291019 (10:12222967 C>T), RS1000331269 (10:12201460 T>A), RS1000344504 (10:12236598 C>T), RS1000427151 (10:12238947 G>A,T), RS1000444045 (10:12242473 TTG>T), RS1000576619 (10:12221310 C>T), RS1000587352 (10:12244629 T>G)
Disease associations
OMIM: gene MIM:617708 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
67 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000167_2 | Type 2 diabetes | 1.000000e-10 |
| GCST000796_1 | Type 2 diabetes | 1.000000e-08 |
| GCST001248_9 | Pulmonary function | 6.000000e-13 |
| GCST001251_9 | Pulmonary function | 3.000000e-12 |
| GCST001666_5 | Type 2 diabetes | 7.000000e-09 |
| GCST001784_5 | Pulmonary function (smoking interaction) | 2.000000e-11 |
| GCST002352_8 | Type 2 diabetes | 3.000000e-09 |
| GCST003400_48 | Type 2 diabetes | 1.000000e-12 |
| GCST004183_23 | Lung function (FEV1) | 1.000000e-11 |
| GCST004184_19 | Lung function (FVC) | 5.000000e-06 |
| GCST004185_42 | Lung function (FEV1/FVC) | 2.000000e-16 |
| GCST004894_101 | Type 2 diabetes | 3.000000e-29 |
| GCST004894_72 | Type 2 diabetes | 3.000000e-10 |
| GCST004904_158 | Body mass index | 1.000000e-09 |
| GCST004904_49 | Body mass index | 7.000000e-09 |
| GCST005047_11 | Type 2 diabetes | 2.000000e-06 |
| GCST005413_13 | Type 2 diabetes | 4.000000e-10 |
| GCST006001_26 | Hemoglobin A1c levels | 1.000000e-11 |
| GCST006801_10 | Type 2 diabetes | 5.000000e-06 |
| GCST006867_114 | Type 2 diabetes | 2.000000e-17 |
| GCST007096_172 | Pulse pressure | 5.000000e-08 |
| GCST007099_34 | Systolic blood pressure | 7.000000e-07 |
| GCST007429_138 | Lung function (FVC) | 7.000000e-11 |
| GCST007430_81 | Peak expiratory flow | 9.000000e-36 |
| GCST007431_155 | Lung function (FEV1/FVC) | 4.000000e-67 |
| GCST007432_185 | FEV1 | 1.000000e-47 |
| GCST007692_64 | Chronic obstructive pulmonary disease | 6.000000e-23 |
| GCST007847_39 | Type 2 diabetes | 8.000000e-27 |
| GCST007847_62 | Type 2 diabetes | 3.000000e-07 |
| GCST008662_7 | Lung function in never smokers (low FEV1 vs high FEV1) | 2.000000e-10 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004314 | forced expiratory volume |
| EFO:0004312 | vital capacity |
| EFO:0004340 | body mass index |
| EFO:0004541 | HbA1c measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0009718 | peak expiratory flow |
| EFO:0005000 | leptin measurement |
| EFO:0004327 | electrocardiography |
| EFO:0007800 | body fat percentage |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, decreases expression | 1 |
| salinomycin | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| K 7174 | decreases expression | 1 |
| 7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one | decreases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Ozone | decreases expression, increases abundance, affects cotreatment | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
| Volatile Organic Compounds | affects cotreatment, decreases expression | 1 |
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): myocardial infarction