CCDC92
gene geneOn this page
Also known as FLJ22471
Summary
CCDC92 (coiled-coil domain containing 92, HGNC:29563) is a protein-coding gene on chromosome 12q24.31, encoding Coiled-coil domain-containing protein 92 (Q53HC0). Interferon-stimulated protein that plays a role in innate immunity.
Enables identical protein binding activity. Predicted to be involved in innate immune response and regulation of defense response to virus. Located in centriole; centrosome; and nucleoplasm.
Source: NCBI Gene 80212 — RefSeq curated summary.
At a glance
- GWAS associations: 78
- Clinical variants (ClinVar): 68 total
- MANE Select transcript:
NM_025140
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29563 |
| Approved symbol | CCDC92 |
| Name | coiled-coil domain containing 92 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22471 |
| Ensembl gene | ENSG00000119242 |
| Ensembl biotype | protein_coding |
| Entrez | 80212 |
Gene structure
Transcript identifiers
Ensembl transcripts: 57 — 55 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000238156, ENST00000535556, ENST00000539551, ENST00000539761, ENST00000542348, ENST00000544798, ENST00000545037, ENST00000545135, ENST00000545891, ENST00000902169, ENST00000902170, ENST00000902171, ENST00000902172, ENST00000902173, ENST00000902174, ENST00000902175, ENST00000902176, ENST00000902177, ENST00000902178, ENST00000902179, ENST00000902180, ENST00000902181, ENST00000902182, ENST00000902183, ENST00000902184, ENST00000902185, ENST00000902186, ENST00000902187, ENST00000902188, ENST00000902189, ENST00000902190, ENST00000902191, ENST00000902192, ENST00000902193, ENST00000902194, ENST00000902195, ENST00000902196, ENST00000963301, ENST00000963302, ENST00000963303, ENST00000963304, ENST00000963305, ENST00000963306, ENST00000963307, ENST00000963308, ENST00000963309, ENST00000963310, ENST00000963311, ENST00000963312, ENST00000963313, ENST00000963314, ENST00000963315, ENST00000963316, ENST00000963317, ENST00000963318, ENST00000963319, ENST00000963320
RefSeq mRNA: 6 — MANE Select: NM_025140
NM_001304957, NM_001304958, NM_001304959, NM_001304960, NM_001304961, NM_025140
CCDS: CCDS76619, CCDS9256
Canonical transcript exons
ENST00000238156 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001151387 | 123944272 | 123944364 |
| ENSE00002213553 | 123935626 | 123937830 |
| ENSE00002279623 | 123972529 | 123972831 |
| ENSE00003526279 | 123943347 | 123943493 |
| ENSE00003640703 | 123942744 | 123942785 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 97.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4361 / max 188.4355, expressed in 1785 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133971 | 10.0510 | 1724 |
| 133970 | 5.2508 | 1612 |
| 133969 | 1.6722 | 982 |
| 133966 | 1.1942 | 702 |
| 133972 | 1.1873 | 809 |
| 133975 | 0.4525 | 145 |
| 133977 | 0.4088 | 147 |
| 133976 | 0.3892 | 135 |
| 133968 | 0.3091 | 136 |
| 133967 | 0.2963 | 130 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| anterior cingulate cortex | UBERON:0009835 | 97.81 | gold quality |
| amygdala | UBERON:0001876 | 97.66 | gold quality |
| temporal lobe | UBERON:0001871 | 97.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.64 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.62 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.62 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.47 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.40 | gold quality |
| frontal cortex | UBERON:0001870 | 97.40 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.34 | gold quality |
| hypothalamus | UBERON:0001898 | 97.25 | gold quality |
| telencephalon | UBERON:0001893 | 97.03 | gold quality |
| substantia nigra | UBERON:0002038 | 96.88 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.77 | gold quality |
| putamen | UBERON:0001874 | 96.69 | gold quality |
| apex of heart | UBERON:0002098 | 96.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.64 | gold quality |
| brain | UBERON:0000955 | 96.43 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.42 | gold quality |
| left testis | UBERON:0004533 | 95.73 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.56 | gold quality |
| right testis | UBERON:0004534 | 95.56 | gold quality |
| popliteal artery | UBERON:0002250 | 95.03 | gold quality |
| tibial artery | UBERON:0007610 | 95.02 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.97 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.94 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.94 | gold quality |
| right coronary artery | UBERON:0001625 | 94.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting CCDC92, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-1261 | 98.62 | 68.10 | 896 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-3650 | 97.88 | 64.89 | 693 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-450B-3P | 97.56 | 66.12 | 512 |
| HSA-MIR-4642 | 97.52 | 67.60 | 916 |
| HSA-MIR-769-3P | 97.06 | 64.83 | 464 |
| HSA-MIR-3616-3P | 96.96 | 65.45 | 983 |
Literature-anchored findings (GeneRIF, showing 4)
- Mutation in CCDC92 gene is associated with insulin-resistant cardiometabolic disease. (PMID:27841877)
- Phenome-wide association scanning showed that CCDC92 likely affects coronary artery disease through insulin resistance pathways, whereas experimental analysis suggests that ARHGEF26 influences the transendothelial migration of leukocytes. (PMID:28714974)
- The genotypic and allelic frequencies of the rs11057401 SNP of CCDC92 gene were significantly different between the patients with coronary heart disease and controls. (PMID:29439709)
- Novel genetic variants of CCDC92 were associated with both Diabetes and Coronary Artery Disease . (PMID:29731020)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc92 | ENSDARG00000041750 |
| mus_musculus | Ccdc92 | ENSMUSG00000037979 |
| rattus_norvegicus | Ccdc92 | ENSRNOG00000021691 |
Paralogs (1): CCDC92B (ENSG00000277200)
Protein
Protein identifiers
Coiled-coil domain-containing protein 92 — Q53HC0 (reviewed: Q53HC0)
Alternative names: Limkain beta-2
All UniProt accessions (5): Q53HC0, F5GXK2, F5H285, F5H2Z7, F5H7P8
UniProt curated annotations — full annotation on UniProt →
Function. Interferon-stimulated protein that plays a role in innate immunity. Strongly inhibits ebolavirus transcription and replication. Forms a complex with viral RNA-bound nucleocapsid NP and thereby prevents the transport of NP to the cell surface.
Subunit / interactions. Interacts with CEP164. (Microbial infection) Interacts with ebolavirus protein NP; this interaction sequesters NP in the cytoplasm.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Post-translational modifications. Phosphorylated at Ser-209 by TTBK2.
Induction. Up to threefold after interferon treatment.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53HC0-1 | 1 | yes |
| Q53HC0-2 | 2 |
RefSeq proteins (6): NP_001291886, NP_001291887, NP_001291888, NP_001291889, NP_001291890, NP_079416* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039496 | CCDC92/74_N | Domain |
| IPR040370 | CCDC74A/CCDC74B/CCDC92 | Family |
Pfam: PF14916
UniProt features (11 total): sequence variant 3, coiled-coil region 2, compositionally biased region 2, chain 1, region of interest 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53HC0-F1 | 73.80 | 0.41 |
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): 209
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
GCM_MAP4K4, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, RORA1_01, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_WOUND_HEALING, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM
GO Biological Process (3): innate immune response (GO:0045087), regulation of defense response to virus (GO:0050688), immune system process (GO:0002376)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| immune response | 1 |
| defense response to symbiont | 1 |
| regulation of response to biotic stimulus | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| defense response to virus | 1 |
| biological_process | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
Protein interactions and networks
STRING
756 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC92 | ZNF664 | Q8N3J9 | 797 |
| CCDC92 | DNAH10 | Q8IVF4 | 787 |
| CCDC92 | SEC16B | Q96JE7 | 607 |
| CCDC92 | CFAP184 | Q2M329 | 540 |
| CCDC92 | CCDC125 | Q86Z20 | 526 |
| CCDC92 | CCDC70 | Q6NSX1 | 506 |
| CCDC92 | TTC39A | Q5SRH9 | 499 |
| CCDC92 | CFAP263 | Q9H0I3 | 488 |
| CCDC92 | CUX2 | O14529 | 477 |
| CCDC92 | TMEM132D | Q14C87 | 461 |
| CCDC92 | ZCCHC8 | Q6NZY4 | 459 |
| CCDC92 | SH2B3 | Q9UQQ2 | 458 |
| CCDC92 | CMTR1 | Q8N1G2 | 442 |
| CCDC92 | CCDC74B | Q96LY2 | 441 |
| CCDC92 | ANAPC7 | Q9UJX3 | 437 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| FHL2 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCDC92 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCDC92 | TRIML2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CEP164 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.600 |
| CCDC92 | CEP164 | psi-mi:“MI:0915”(physical association) | 0.600 |
| CCDC92 | CEP164 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| TRIM27 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | TP53BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | CEP76 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TP53BP2 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP76 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | YAF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YAF9 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | DISC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC92 | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
| tax | CCDC92 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (104): CCDC92 (Two-hybrid), CCDC92 (Two-hybrid), CCDC92 (Two-hybrid), CCDC92 (Two-hybrid), CCDC92 (Affinity Capture-MS), PSMD13 (Affinity Capture-MS), PSMD3 (Affinity Capture-MS), PSMD11 (Affinity Capture-MS), PSMC6 (Affinity Capture-MS), PSMC3 (Affinity Capture-MS), PSMC4 (Affinity Capture-MS), PSMC1 (Affinity Capture-MS), PSMC5 (Affinity Capture-MS), PSMD2 (Affinity Capture-MS), PSMD14 (Affinity Capture-MS)
ESM2 similar proteins: A0M8S4, A0M8T5, A1X157, B9EJA2, O35867, P0C6C1, P39880, P53564, P53565, Q00PJ1, Q02225, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q13625, Q2IBA2, Q2IBB2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q53HC0, Q5RDH2, Q5T1M5
Diamond homologs: Q53HC0, Q8VDN4, A0A8I5KY20
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 |
|---|---|---|---|
| cilium assembly | 5 | 12.3× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4183 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:123918671:TTCA:T | acceptor_loss | 1.0000 |
| 12:123918673:CA:C | acceptor_loss | 1.0000 |
| 12:123918674:A:AC | acceptor_loss | 1.0000 |
| 12:123918945:CACAG:C | donor_loss | 1.0000 |
| 12:123918946:ACAG:A | donor_loss | 1.0000 |
| 12:123918947:CAGG:C | donor_loss | 1.0000 |
| 12:123918948:AGG:A | donor_loss | 1.0000 |
| 12:123918949:GGTGA:G | donor_loss | 1.0000 |
| 12:123918951:T:G | donor_loss | 1.0000 |
| 12:123923863:AAAAG:A | donor_loss | 1.0000 |
| 12:123923864:AAAG:A | donor_loss | 1.0000 |
| 12:123923865:AAG:A | donor_loss | 1.0000 |
| 12:123923866:AGGTA:A | donor_loss | 1.0000 |
| 12:123923867:GG:G | donor_loss | 1.0000 |
| 12:123923868:G:C | donor_loss | 1.0000 |
| 12:123923869:T:G | donor_loss | 1.0000 |
| 12:123925046:CCAG:C | acceptor_loss | 1.0000 |
| 12:123925047:CAGT:C | acceptor_loss | 1.0000 |
| 12:123925048:A:AG | acceptor_gain | 1.0000 |
| 12:123925048:A:T | acceptor_loss | 1.0000 |
| 12:123925048:AGT:A | acceptor_gain | 1.0000 |
| 12:123925048:AGTG:A | acceptor_gain | 1.0000 |
| 12:123925049:G:GA | acceptor_gain | 1.0000 |
| 12:123925049:GTG:G | acceptor_gain | 1.0000 |
| 12:123925049:GTGG:G | acceptor_gain | 1.0000 |
| 12:123925200:GAGAA:G | donor_gain | 1.0000 |
| 12:123925202:GAA:G | donor_gain | 1.0000 |
| 12:123925203:AA:A | donor_gain | 1.0000 |
| 12:123925203:AAGT:A | donor_loss | 1.0000 |
| 12:123925204:AG:A | donor_loss | 1.0000 |
AlphaMissense
2158 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:123937316:A:C | F246L | 0.999 |
| 12:123937316:A:T | F246L | 0.999 |
| 12:123937318:A:G | F246L | 0.999 |
| 12:123937581:A:G | L158P | 0.999 |
| 12:123943364:A:G | L55P | 0.999 |
| 12:123943385:A:G | L48P | 0.998 |
| 12:123943394:A:G | L45P | 0.998 |
| 12:123943420:G:C | F36L | 0.998 |
| 12:123943420:G:T | F36L | 0.998 |
| 12:123943422:A:G | F36L | 0.998 |
| 12:123943427:A:G | L34P | 0.998 |
| 12:123937317:A:C | F246C | 0.997 |
| 12:123937317:A:G | F246S | 0.997 |
| 12:123937569:A:G | L162P | 0.997 |
| 12:123937653:A:G | L134P | 0.997 |
| 12:123942770:A:G | L66P | 0.997 |
| 12:123943404:C:G | A42P | 0.997 |
| 12:123943418:A:G | L37P | 0.997 |
| 12:123937611:A:G | L148P | 0.996 |
| 12:123943361:T:G | Q56P | 0.996 |
| 12:123943394:A:T | L45H | 0.996 |
| 12:123937600:C:G | A152P | 0.994 |
| 12:123937602:C:G | R151P | 0.994 |
| 12:123943421:A:G | F36S | 0.994 |
| 12:123943448:A:G | L27P | 0.994 |
| 12:123937326:G:T | P243H | 0.993 |
| 12:123937329:T:C | D242G | 0.993 |
| 12:123943406:T:G | H41P | 0.992 |
| 12:123943421:A:C | F36C | 0.992 |
| 12:123943440:C:G | A30P | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000003607 (12:123937694 C>T), RS1000089831 (12:123938910 C>A,T), RS1000176913 (12:123957649 T>C), RS1000246229 (12:123963021 C>T), RS1000351428 (12:123973221 TC>T,TCC), RS1000413378 (12:123948242 T>C), RS1000445188 (12:123969164 C>A), RS1000448375 (12:123946261 C>A), RS1000569337 (12:123942173 G>A), RS1000583565 (12:123945914 C>T), RS1000694004 (12:123947145 C>A), RS1000698711 (12:123951261 A>G), RS1000699375 (12:123947340 G>A), RS1000782513 (12:123962858 T>A), RS1000980147 (12:123935225 G>A,T)
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
78 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000755_47 | HDL cholesterol | 3.000000e-10 |
| GCST000758_20 | Triglycerides | 1.000000e-08 |
| GCST002782_143 | Waist-to-hip ratio adjusted for body mass index | 1.000000e-14 |
| GCST002782_144 | Waist-to-hip ratio adjusted for body mass index | 2.000000e-15 |
| GCST002782_145 | Waist-to-hip ratio adjusted for body mass index | 4.000000e-15 |
| GCST002782_146 | Waist-to-hip ratio adjusted for body mass index | 2.000000e-16 |
| GCST004505_21 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 4.000000e-17 |
| GCST004505_22 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 1.000000e-13 |
| GCST004507_18 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 2.000000e-07 |
| GCST004507_35 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 1.000000e-07 |
| GCST004508_37 | Waist-to-hip ratio adjusted for BMI in non-smokers | 3.000000e-08 |
| GCST004508_38 | Waist-to-hip ratio adjusted for BMI in non-smokers | 1.000000e-07 |
| GCST004563_129 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 7.000000e-10 |
| GCST004563_208 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 2.000000e-16 |
| GCST004564_69 | Waist circumference adjusted for BMI in active individuals | 4.000000e-17 |
| GCST004564_70 | Waist circumference adjusted for BMI in active individuals | 8.000000e-11 |
| GCST004567_104 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 3.000000e-19 |
| GCST004567_118 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 4.000000e-18 |
| GCST004567_12 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 3.000000e-18 |
| GCST004567_31 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 4.000000e-18 |
| GCST004576_1 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-18 |
| GCST004576_11 | Waist-to-hip ratio adjusted for body mass index | 8.000000e-17 |
| GCST004576_12 | Waist-to-hip ratio adjusted for body mass index | 1.000000e-19 |
| GCST004576_13 | Waist-to-hip ratio adjusted for body mass index | 8.000000e-21 |
| GCST004578_140 | Waist-to-hip ratio adjusted for BMI in active individuals | 6.000000e-19 |
| GCST004578_44 | Waist-to-hip ratio adjusted for BMI in active individuals | 3.000000e-18 |
| GCST004578_59 | Waist-to-hip ratio adjusted for BMI in active individuals | 1.000000e-19 |
| GCST004578_82 | Waist-to-hip ratio adjusted for BMI in active individuals | 4.000000e-18 |
| GCST004610_133 | White blood cell count | 3.000000e-09 |
| GCST004622_124 | Reticulocyte count | 6.000000e-09 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004318 | smoking behavior |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008002 | physical activity measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0006941 | grip strength measurement |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0010368 | lysophosphatidylethanolamine 18:1 measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004531 | urate measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 2 |
| entinostat | decreases expression, increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | increases methylation | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Copper | affects binding, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5JS | HAP1 CCDC92 (-) 2 | Cancer cell line | Male |
| CVCL_B5JT | HAP1 CCDC92 (-) 3 | Cancer cell line | Male |
| CVCL_XM51 | HAP1 CCDC92 (-) 1 | Cancer cell line | Male |
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.