CDCA3
gene geneOn this page
Also known as TOME-1GRCC8
Summary
CDCA3 (cell division cycle associated 3, HGNC:14624) is a protein-coding gene on chromosome 12p13.31, encoding Cell division cycle-associated protein 3 (Q99618). F-box-like protein which is required for entry into mitosis. It is a selective cancer dependency (DepMap: 20.0% of cell lines).
Predicted to be involved in cell division and protein ubiquitination. Located in adherens junction.
Source: NCBI Gene 83461 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 138 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 20.0% of screened cell lines
- MANE Select transcript:
NM_031299
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14624 |
| Approved symbol | CDCA3 |
| Name | cell division cycle associated 3 |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TOME-1, GRCC8 |
| Ensembl gene | ENSG00000111665 |
| Ensembl biotype | protein_coding |
| OMIM | 607749 |
| Entrez | 83461 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000229265, ENST00000422785, ENST00000446553, ENST00000535406, ENST00000535871, ENST00000536241, ENST00000538862, ENST00000540683, ENST00000544610, ENST00000545368, ENST00000603043, ENST00000604599, ENST00000927229, ENST00000927230, ENST00000927231, ENST00000927232
RefSeq mRNA: 5 — MANE Select: NM_031299
NM_001297602, NM_001297603, NM_001297604, NM_001331019, NM_031299
CCDS: CCDS73428, CCDS76512, CCDS76513, CCDS8565
Canonical transcript exons
ENST00000538862 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000716130 | 6849323 | 6849429 |
| ENSE00002274400 | 6851222 | 6851286 |
| ENSE00003501011 | 6850467 | 6850596 |
| ENSE00003536492 | 6848828 | 6849198 |
| ENSE00003565778 | 6849565 | 6849858 |
| ENSE00003620640 | 6850833 | 6851009 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 96.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1008 / max 182.9738, expressed in 1394 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129206 | 21.1008 | 1394 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.49 | gold quality |
| oocyte | CL:0000023 | 96.03 | gold quality |
| secondary oocyte | CL:0000655 | 94.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.87 | gold quality |
| left testis | UBERON:0004533 | 91.40 | gold quality |
| right testis | UBERON:0004534 | 91.37 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.46 | gold quality |
| embryo | UBERON:0000922 | 90.04 | gold quality |
| duodenum | UBERON:0002114 | 89.42 | gold quality |
| testis | UBERON:0000473 | 89.39 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.09 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.61 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.81 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.64 | gold quality |
| bone marrow | UBERON:0002371 | 83.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 83.41 | gold quality |
| small intestine | UBERON:0002108 | 83.24 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.87 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.77 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.02 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.95 | gold quality |
| rectum | UBERON:0001052 | 81.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.75 | gold quality |
| bone marrow cell | CL:0002092 | 81.46 | gold quality |
| adult organism | UBERON:0007023 | 81.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.15 | gold quality |
| lymph node | UBERON:0000029 | 79.90 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 79.76 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 23.34 |
| E-MTAB-6678 | yes | 7.61 |
| E-ANND-3 | yes | 5.00 |
| E-MTAB-6142 | no | 522.20 |
| E-MTAB-7249 | no | 64.37 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXC1, HOXB3
miRNA regulators (miRDB)
43 targeting CDCA3, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 24)
- a repressor element (cell-cycle-dependent element/cell cycle gene homology region) in the vicinity of the transcription start site, and mutations within this element diminished the cell-cycle-dependent transcriptional regulation of Tome-1 (PMID:15733861)
- overexpression of CDCA3 occurs frequently during oral carcinogenesis. (PMID:22839099)
- HoxB3 promote prostate cancer progression by upregulating CDCA3 expression. (PMID:23219899)
- High CDCA3 expression is associated with neoplasms. (PMID:25236463)
- OY-TES-1 downregulation in liver cancer cells promotes cell proliferation by upregulating CCND2 and CDCA3. (PMID:25673160)
- Data indicate a miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry which contributes to leukemogenesis and suggest a therapeutic strategy of restoring miR-375 expression in Acute myeloid leukemia (AML). (PMID:29439669)
- these results define a tumor-supportive role for CDCA3. (PMID:29627567)
- Study demonstrated that CDCA3 may target p21 to promote colorectal cancer (CRC) cell proliferation and tumorigenesis, at least partially in an E2F1-mediated manner, and that CDCA3 may serve as a potential prognostic and therapeutic target of CRC. (PMID:30226575)
- Study results demonstrated that CDCA3 expression was increased in human gastric cancer (GC) tissues compared with those in adjacent nontumor tissues CDCA3 expression was closely associated with features of GC and patients with unfavorable overall survival times. CDCA3 overexpression resulted in the stimulation of cell growth and colony formation in vitro and xenograft tumors in vivo. (PMID:30816466)
- DNA hypomethylation promotes invasion and metastasis of gastric cancer cells by regulating the binding of SP1 to the CDCA3 promoter. (PMID:31211445)
- miR-145-5p suppresses proliferation, metastasis and EMT of colorectal cancer by targeting CDCA3. (PMID:32107086)
- Long noncoding RNA SNHG12 promotes tumour progression and sunitinib resistance by upregulating CDCA3 in renal cell carcinoma. (PMID:32641718)
- Downregulation of CDCA3 expression inhibits tumor formation in pancreatic cancer. (PMID:32701354)
- Circ_0001421 facilitates glycolysis and lung cancer development by regulating miR-4677-3p/CDCA3. (PMID:33109222)
- CDCA3 Is a Novel Prognostic Biomarker Associated with Immune Infiltration in Hepatocellular Carcinoma. (PMID:33604380)
- Circular RNA hsa_circ_101555 promotes hepatocellular carcinoma cell proliferation and migration by sponging miR-145-5p and regulating CDCA3 expression. (PMID:33824281)
- Elevating CDCA3 levels in non-small cell lung cancer enhances sensitivity to platinum-based chemotherapy. (PMID:34050247)
- Prognostic value of CDCA3 in kidney renal papillary cell carcinoma. (PMID:34905505)
- Suppression of CDCA3 inhibits prostate cancer progression via NFkappaB/cyclin D1 signaling inactivation and p21 accumulation. (PMID:34970697)
- LncCDCA3L inhibits cell proliferation via a novel RNA structure-based crosstalk with CDCA3 in hepatocellular carcinoma. (PMID:35230745)
- MYBL2 promotes proliferation and metastasis of bladder cancer through transactivation of CDCA3. (PMID:36071275)
- CDCA3 exhibits a role in promoting the progression of ovarian cancer. (PMID:36081320)
- MiRNA-144-5p down-modulates CDCA3 to regulate proliferation and apoptosis of lung adenocarcinoma cells. (PMID:36087462)
- Identification of circ_0038632 as a Promoter of Breast Cancer through miR-520a-3p-Dependent Modulation of CDCA3. (PMID:37625824)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdca3 | ENSDARG00000070656 |
| mus_musculus | Cdca3 | ENSMUSG00000023505 |
| rattus_norvegicus | Cdca3 | ENSRNOG00000015529 |
| drosophila_melanogaster | msb1l | FBGN0027949 |
Protein
Protein identifiers
Cell division cycle-associated protein 3 — Q99618 (reviewed: Q99618)
Alternative names: Gene-rich cluster protein C8, Trigger of mitotic entry protein 1
All UniProt accessions (4): Q99618, F5GX58, F8WDL1, J3KMY0
UniProt curated annotations — full annotation on UniProt →
Function. F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase.
Subunit / interactions. Interacts with SKP1. Part of a SCF (SKP1-cullin-F-box) protein ligase complex.
Subcellular location. Cytoplasm. Cytosol.
Post-translational modifications. Ubiquitinated and degraded by the APC/C-Cdh1 complex.
Domain organisation. The KEN box is required for the association with the APC/C-Cdh1 complex.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (5): NP_001284531, NP_001284532, NP_001284533, NP_001317948, NP_112589* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR038832 | CDCA3 | Family |
UniProt features (25 total): modified residue 13, compositionally biased region 7, region of interest 3, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99618-F1 | 59.01 | 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 (13): 29, 31, 37, 44, 64, 68, 76, 87, 94, 199, 202, 209, 212
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 275 (showing top):
HORIUCHI_WTAP_TARGETS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GNF2_CENPF, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, DITTMER_PTHLH_TARGETS_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, KONG_E2F3_TARGETS, CAGCTG_AP4_Q5, SHEPARD_BMYB_MORPHOLINO_DN, GOLDRATH_ANTIGEN_RESPONSE, LI_WILMS_TUMOR_ANAPLASTIC_UP, GNF2_HMMR, MCAATNNNNNGCG_UNKNOWN, FISCHER_G2_M_CELL_CYCLE
GO Biological Process (2): protein ubiquitination (GO:0016567), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), adherens junction (GO:0005912), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein modification by small protein conjugation | 1 |
| cellular process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cell-cell junction | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1436 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDCA3 | WEE1 | P30291 | 845 |
| CDCA3 | CDK1 | P06493 | 778 |
| CDCA3 | CDCA2 | Q69YH5 | 721 |
| CDCA3 | SKP1 | P34991 | 667 |
| CDCA3 | CDCA8 | Q53HL2 | 665 |
| CDCA3 | CDC20 | Q12834 | 644 |
| CDCA3 | NUSAP1 | Q9BXS6 | 622 |
| CDCA3 | KIF4A | O95239 | 617 |
| CDCA3 | AURKB | Q96GD4 | 612 |
| CDCA3 | CEP55 | Q53EZ4 | 588 |
| CDCA3 | CDCA5 | Q96FF9 | 580 |
| CDCA3 | NUF2 | Q9BZD4 | 570 |
| CDCA3 | TOP2A | P11388 | 564 |
| CDCA3 | NEK2 | P51955 | 554 |
| CDCA3 | CTDSP1 | Q9GZU7 | 550 |
IntAct
140 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTDSP1 | CDCA3 | psi-mi:“MI:0915”(physical association) | 0.940 |
| CDCA3 | CTDSP1 | psi-mi:“MI:0915”(physical association) | 0.940 |
| CTDSP1 | CDCA3 | psi-mi:“MI:0914”(association) | 0.940 |
| CTDSP2 | CDCA3 | psi-mi:“MI:0915”(physical association) | 0.900 |
| CDCA3 | CTDSP2 | psi-mi:“MI:0915”(physical association) | 0.900 |
| TRAF2 | CDCA3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CDCA3 | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRAF1 | CDCA3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CDCA3 | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CDCA3 | CTDSPL | psi-mi:“MI:0914”(association) | 0.670 |
| CTDSP1 | CTDSPL | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (260): SKP1 (Co-fractionation), CUL1 (Reconstituted Complex), CDCA3 (Two-hybrid), CDCA3 (Two-hybrid), CDCA3 (Two-hybrid), CDCA3 (Two-hybrid), CDCA3 (Affinity Capture-MS), CDCA3 (Affinity Capture-MS), NMT1 (Affinity Capture-MS), FZR1 (Affinity Capture-MS), CTDSPL (Affinity Capture-MS), ATP6V1C1 (Affinity Capture-MS), LAMTOR4 (Affinity Capture-MS), CTDNEP1 (Affinity Capture-MS), CDCA3 (Two-hybrid)
ESM2 similar proteins: A0A1B0GTI1, A2BIL8, A5PKK9, C5DY61, E2QSX5, E7F555, O35147, O43151, P11805, P19416, P24940, P27579, Q06616, Q17QE3, Q1LZE2, Q1RMQ5, Q1T763, Q28CW2, Q2HR82, Q2TBN9, Q3B8E9, Q3ZBS1, Q567C6, Q5RDK8, Q62417, Q68FW2, Q6AY26, Q6DFB0, Q6P6I6, Q6PKN7, Q80U49, Q86YL5, Q8C3W1, Q8QVM1, Q8VEB3, Q8VI59, Q96FT9, Q96GV9, Q96GY3, Q99618
Diamond homologs: P0C2X8, Q68FW2, Q99618, Q99M54
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDC14B | up-regulates | CDCA3 | dephosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 5 | 29.8× | 3e-05 |
| Downstream signal transduction | 6 | 26.2× | 8e-06 |
| DAP12 signaling | 5 | 21.2× | 1e-04 |
| NCAM signaling for neurite out-growth | 5 | 15.6× | 3e-04 |
| EPH-ephrin mediated repulsion of cells | 6 | 15.2× | 1e-04 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 10 | 14.6× | 5e-07 |
| Signaling by SCF-KIT | 5 | 14.3× | 5e-04 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 11 | 12.2× | 5e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| peptidyl-tyrosine phosphorylation | 9 | 34.8× | 2e-09 |
| ephrin receptor signaling pathway | 7 | 22.1× | 4e-06 |
| cell surface receptor protein tyrosine kinase signaling pathway | 12 | 19.1× | 1e-09 |
| protein autophosphorylation | 11 | 14.7× | 6e-08 |
| positive regulation of neuron projection development | 11 | 13.8× | 9e-08 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 15 | 10.8× | 3e-09 |
| cellular response to retinoic acid | 5 | 10.7× | 5e-03 |
| neuron apoptotic process | 6 | 10.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
138 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 24 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 242984 | NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter) | Pathogenic |
SpliceAI
1068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:6845575:C:A | acceptor_gain | 1.0000 |
| 12:6845577:T:TA | acceptor_gain | 1.0000 |
| 12:6845581:CTCA:C | acceptor_loss | 1.0000 |
| 12:6845582:TCA:T | acceptor_loss | 1.0000 |
| 12:6845583:CAG:C | acceptor_loss | 1.0000 |
| 12:6845584:A:AG | acceptor_gain | 1.0000 |
| 12:6845584:AGTT:A | acceptor_loss | 1.0000 |
| 12:6845585:G:GT | acceptor_gain | 1.0000 |
| 12:6845585:GT:G | acceptor_gain | 1.0000 |
| 12:6845585:GTT:G | acceptor_gain | 1.0000 |
| 12:6845585:GTTC:G | acceptor_gain | 1.0000 |
| 12:6845585:GTTCT:G | acceptor_gain | 1.0000 |
| 12:6845786:G:GT | donor_gain | 1.0000 |
| 12:6845795:GCGT:G | donor_gain | 1.0000 |
| 12:6849561:GTACC:G | donor_loss | 1.0000 |
| 12:6849562:TACCT:T | donor_loss | 1.0000 |
| 12:6849563:A:G | donor_loss | 1.0000 |
| 12:6849564:C:A | donor_loss | 1.0000 |
| 12:6845572:ACCC:A | acceptor_gain | 0.9900 |
| 12:6845799:GTGG:G | donor_gain | 0.9900 |
| 12:6845801:GG:G | donor_gain | 0.9900 |
| 12:6845802:GG:G | donor_gain | 0.9900 |
| 12:6849315:T:TA | donor_gain | 0.9900 |
| 12:6849565:C:A | donor_loss | 0.9900 |
| 12:6849859:C:CC | acceptor_gain | 0.9900 |
| 12:6850461:GCTTA:G | donor_loss | 0.9900 |
| 12:6850462:CTTAC:C | donor_loss | 0.9900 |
| 12:6850464:TACCT:T | donor_loss | 0.9900 |
| 12:6850466:C:CT | donor_loss | 0.9900 |
| 12:6850595:ACCT:A | acceptor_loss | 0.9900 |
AlphaMissense
1711 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:6850837:A:T | I39N | 0.991 |
| 12:6850837:A:G | I39T | 0.990 |
| 12:6850847:G:T | R36S | 0.990 |
| 12:6850852:A:G | I34T | 0.990 |
| 12:6850837:A:C | I39S | 0.985 |
| 12:6850871:G:T | R28S | 0.985 |
| 12:6850518:G:T | R67S | 0.984 |
| 12:6850860:A:C | S31R | 0.983 |
| 12:6850860:A:T | S31R | 0.983 |
| 12:6850862:T:G | S31R | 0.983 |
| 12:6850876:T:C | D26G | 0.980 |
| 12:6850852:A:C | I34S | 0.978 |
| 12:6850877:C:G | D26H | 0.974 |
| 12:6850868:A:G | S29P | 0.972 |
| 12:6850840:G:T | P38H | 0.968 |
| 12:6850875:G:C | D26E | 0.966 |
| 12:6850875:G:T | D26E | 0.966 |
| 12:6850876:T:A | D26V | 0.964 |
| 12:6850876:T:G | D26A | 0.963 |
| 12:6850515:A:G | S68P | 0.961 |
| 12:6850511:G:T | P69H | 0.957 |
| 12:6850846:C:G | R36P | 0.957 |
| 12:6850935:G:C | S6R | 0.957 |
| 12:6850935:G:T | S6R | 0.957 |
| 12:6850937:T:G | S6R | 0.957 |
| 12:6850499:A:C | I73S | 0.956 |
| 12:6850864:G:T | P30H | 0.956 |
| 12:6850499:A:T | I73N | 0.955 |
| 12:6850870:C:G | R28P | 0.954 |
| 12:6850949:C:G | G2R | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1001237782 (12:6847183 C>A,T), RS1003545766 (12:6848991 A>G), RS1006054296 (12:6851107 C>G), RS1006086774 (12:6850866 T>C), RS1006284085 (12:6844703 G>A,C), RS1007058310 (12:6846461 A>G), RS1007441156 (12:6845330 G>A), RS1008085951 (12:6847511 T>C), RS1008104507 (12:6848181 C>A,T), RS1008571341 (12:6852714 T>G), RS1009568695 (12:6848541 T>C), RS1009901914 (12:6847145 G>A,C), RS1010132418 (12:6853189 C>T), RS1010523511 (12:6850100 A>G), RS1010579543 (12:6852797 C>A)
Disease associations
OMIM: gene MIM:607749 | disease phenotypes: MIM:617024, MIM:145500
GenCC curated gene-disease
Mondo (2): congenital stationary night blindness 1H (MONDO:0014872), essential hypertension, genetic (MONDO:0007781)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs5442 | CDCA3, GNB3, USP5 | 0.00 | 0 | ||
| rs5443 | CDCA3, GNB3, USP5 | 3 | 5.00 | 15 | bumetanide;furosemide;torasemide;methadone;atenolol;antidepressants;HMG-CoA reductase inhibitors;sumatriptan;olanzapine;sildenafil;nortriptyline;Beta Blocking Agents |
| rs5445 | CDCA3, GNB3 | 0.00 | 0 | ||
| rs2301339 | CDCA3, GNB3, USP5 | 3 | 9.25 | 1 | atenolol |
CTD chemical–gene interactions
85 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases expression | 4 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| perfluorooctanoic acid | decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Cisplatin | increases reaction, affects expression, decreases expression | 2 |
| Coumestrol | affects cotreatment, increases expression, affects reaction | 2 |
| Tretinoin | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| fluorene-9-bisphenol | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| cupric oxide | decreases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| phenethyl isothiocyanate | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 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): congenital stationary night blindness 1H, essential hypertension, genetic