CCNG2
gene geneOn this page
Summary
CCNG2 (cyclin G2, HGNC:1593) is a protein-coding gene on chromosome 4q21.1, encoding Cyclin-G2 (Q16589). May play a role in growth regulation and in negative regulation of cell cycle progression.
The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle.
Source: NCBI Gene 901 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_004354
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1593 |
| Approved symbol | CCNG2 |
| Name | cyclin G2 |
| Location | 4q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000138764 |
| Ensembl biotype | protein_coding |
| OMIM | 603203 |
| Entrez | 901 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000316355, ENST00000395640, ENST00000497512, ENST00000502280, ENST00000509972, ENST00000512918, ENST00000514756, ENST00000863383, ENST00000863384, ENST00000863385, ENST00000957897
RefSeq mRNA: 1 — MANE Select: NM_004354
NM_004354
CCDS: CCDS3581
Canonical transcript exons
ENST00000316355 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001275225 | 77165801 | 77170060 |
| ENSE00001864532 | 77157207 | 77157506 |
| ENSE00003527254 | 77160721 | 77160971 |
| ENSE00003563962 | 77159367 | 77159504 |
| ENSE00003581563 | 77161649 | 77161747 |
| ENSE00003632653 | 77164274 | 77164479 |
| ENSE00003652129 | 77161480 | 77161558 |
| ENSE00003756504 | 77158533 | 77158670 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7140 / max 490.8687, expressed in 1762 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 48404 | 8.4507 | 1703 |
| 48405 | 2.3969 | 1121 |
| 48406 | 1.5658 | 505 |
| 48408 | 1.0729 | 377 |
| 48409 | 0.1545 | 58 |
| 48410 | 0.0396 | 13 |
| 48407 | 0.0337 | 15 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amniotic fluid | UBERON:0000173 | 99.68 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.29 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.16 | gold quality |
| parietal pleura | UBERON:0002400 | 99.00 | gold quality |
| tibia | UBERON:0000979 | 98.84 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.75 | gold quality |
| visceral pleura | UBERON:0002401 | 98.68 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.68 | gold quality |
| pleura | UBERON:0000977 | 98.34 | gold quality |
| oral cavity | UBERON:0000167 | 98.30 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.22 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.18 | gold quality |
| mammary duct | UBERON:0001765 | 97.87 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.73 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.71 | gold quality |
| cortical plate | UBERON:0005343 | 97.70 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.70 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.69 | gold quality |
| nephron tubule | UBERON:0001231 | 97.54 | gold quality |
| upper leg skin | UBERON:0004262 | 97.48 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.44 | gold quality |
| paraflocculus | UBERON:0005351 | 97.41 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.34 | gold quality |
| ventricular zone | UBERON:0003053 | 97.26 | gold quality |
| endothelial cell | CL:0000115 | 97.24 | gold quality |
| adult organism | UBERON:0007023 | 97.23 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.07 | gold quality |
| mammary gland | UBERON:0001911 | 96.89 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 21.33 |
| E-GEOD-99795 | no | 68.17 |
| E-CURD-112 | no | 2.52 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AHR, AR, BACH1, ESR1, FOXA1, FOXO1, FOXO3, FOXO4, GLI2, MYC, OTX2, SMAD2, SMAD3, SMAD4, SP1, TP53, ZEB1
miRNA regulators (miRDB)
215 targeting CCNG2, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
Literature-anchored findings (GeneRIF, showing 39)
- cyclin G2 also associates with various PP2A B’ regulatory subunits, as previously shown for cyclin G1 (PMID:11956189)
- ectopic expression of cyclin G2 inhibits cell proliferation (PMID:12452053)
- Involved in progression and regulation of telomerase (PMID:16364039)
- Estrogen-occupied estrogen receptor represses cyclin G2 gene expression and recruits a repressor complex at the cyclin G2 promoter (PMID:16608856)
- Cyclin G2 may modulate the cell cycle and cellular division processes through modulation of PP2A and centrosomal associated activities. (PMID:17123511)
- Cyclin G2 expression is modulated by HER2 signaling through multiple pathways including phosphoinositide 3-kinase, c-jun NH(2)-terminal kinase, and mTOR signaling. (PMID:18025271)
- our results suggest that cotylenin A and rapamycin induce inhibition of cancer cell growth through the induction of cyclin G2. (PMID:18754885)
- The antiproliferative effect of Nodal/ALK7 on ovarian cancer cells is in part mediated by cyclin G2. (PMID:18784254)
- Cyclin G2 appears to be a negative cell-cycle regulator in gastric cancer, and its expression seems to be inversely related to gastric cancer progression. (PMID:19559447)
- These findings showed that Nodal signaling promotes cyclin G2 transcription by upregulating FoxO3a expression, inhibiting FoxO3a phosphorylation and enhancing its synergistic interaction with Smads. (PMID:21532621)
- Expression of cyclin G1 and G2 is strongly associated with nasopharyngeal carcinoma cell differentiation. (PMID:21688120)
- Our results suggest that CycG2 contributes to DNA damage-induced G(2)/M checkpoint by enforcing checkpoint inhibition of CycB1-Cdc2 complexes. (PMID:22589537)
- These findings show that FOXA1, but not ER- alpha, is essential for AHR(aryl hydrocarbon receptor) -dependent regulation of CCNG2(cyclin G2 ), assigning a role for FOXA1 in AHR action. (PMID:22596188)
- Regulation of cyclin G2 is a key mechanism whereby insulin, insulin analogues and IGF-I stimulate cell proliferation. (PMID:24059861)
- CCNG2 expression decreased in gastric cancer and correlated significantly T stages, lymph node metastasis, clinical stage, histological grade, and poor overall survival (PMID:24248541)
- CCNG2 may play important roles as a negative regulator to kidney cancer ACHN cell by promoting degradation of CDK2. (PMID:24272084)
- Low CCNG2 expression is associated with thyroid cancer. (PMID:24289643)
- CCNG2 expression decreased in prostate cancer and correlated significantly with lymph node metastasis, clinic stage, and Gleason score. (PMID:24293374)
- CCNG2 may play important roles as a negative regulator to esophageal cancer cell by promoting degradation of CDK2. (PMID:24297335)
- The level of CCNG2 was correlated with T stages, lymph node metastasis, clinic stage, and histological grade (P < 0.05) in colorectal carcinoma. (PMID:24307622)
- Cyclin G2-involved invasion in vitro and in vivo. (PMID:24339739)
- Data shows the human CCNG2 and CDK4 expression of visceral adipose tissue are inversely associated with glucose and insulin resistance. (PMID:24708911)
- miR-1246 expression was associated with chemoresistance and CSC-like properties via CCNG2, and could predict worse prognosis in pancreatic cancer patients (PMID:25117811)
- Data (from studies using BeWo cells, a choriocarcinoma cell line, as model of placentation) suggest that miR-378a-5p (microRNA 378a) inhibits cell differentiation in syncytiotrophoblasts, in part, by down-regulating CCNG2 (cyclin G2) expression. (PMID:25122062)
- miR-93-CCNG2 axis may be involved in Laryngeal squamous cell carcinoma proliferation and progression. (PMID:25309979)
- Neisseria meningitidis caused changes in the abundance of several cell cycle regulatory mRNAs, including the cell cycle inhibitors p21(WAF1/CIP1) and cyclin G2 in human brain microvascular endothelial cells. (PMID:26149128)
- Upregulation of miR1246 mediated the malignant progression of colorectal cancer and is partly attributed to the downregulation of the expression of CycG2. (PMID:26573378)
- Taken together, our novel findings demonstrate that cyclin G2 has potent tumor-suppressive effects in Epithelial ovarian cancer (EOC) by inhibiting EMT through attenuating Wnt/beta-catenin signaling. (PMID:26876206)
- CCNG2 knockdown eradicated the effects of miR-340 silencing. (PMID:27374211)
- CycG2 contributes to signaling networks that limit breast cancer. (PMID:27753529)
- EGF-induced, calpain-mediated proteolysis contributes to the rapid destruction of cyclin G2 and that the PEST domain is critical for EGF/calpain actions (PMID:28640887)
- This study demonstrates that cyclin G2 suppresses Wnt/beta-catenin signaling and inhibits gastric cancer cell growth and migration through Dapper1. (PMID:30547803)
- these results suggest that miR-590-3p promotes ovarian cancer development, in part by directly targeting CCNG2 and FOXO3. (PMID:31013711)
- MiR-1290 targets CCNG2 to promote the metastasis of oral squamous cell carcinoma. (PMID:31841213)
- Cyclin G2 regulates canonical Wnt signalling via interaction with Dapper1 to attenuate tubulointerstitial fibrosis in diabetic nephropathy. (PMID:31978940)
- Cyclin G2 Is Involved in the Proliferation of Placental Trophoblast Cells and Their Interactions with Endothelial Cells. (PMID:32941407)
- Cyclin G2 upregulation impairs migration, invasion, and network formation through RNF123/Dvl2/JNK signaling in the trophoblast cell line HTR8/SVneo, a possible role in preeclampsia. (PMID:33205477)
- Cyclin G2 reverses immunosuppressive tumor microenvironment and potentiates PD-1 blockade in glioma. (PMID:34452627)
- miR-17-5p drives G2/M-phase accumulation by directly targeting CCNG2 and is related to recurrence of head and neck squamous cell carcinoma. (PMID:34598688)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccng2 | ENSDARG00000017602 |
| mus_musculus | Ccng2 | ENSMUSG00000029385 |
| rattus_norvegicus | Ccng2 | ENSRNOG00000002089 |
| drosophila_melanogaster | CycA | FBGN0000404 |
| drosophila_melanogaster | CycB | FBGN0000405 |
| drosophila_melanogaster | CycD | FBGN0010315 |
| drosophila_melanogaster | CycE | FBGN0010382 |
| caenorhabditis_elegans | WBGENE00000863 | |
| caenorhabditis_elegans | WBGENE00000864 | |
| caenorhabditis_elegans | WBGENE00000865 | |
| caenorhabditis_elegans | WBGENE00000866 | |
| caenorhabditis_elegans | cyb-2.2 | WBGENE00000867 |
| caenorhabditis_elegans | WBGENE00000870 | |
| caenorhabditis_elegans | cye-1 | WBGENE00000871 |
| caenorhabditis_elegans | WBGENE00017259 |
Paralogs (18): CCNE1 (ENSG00000105173), CCNP (ENSG00000105219), CCNJ (ENSG00000107443), CCND1 (ENSG00000110092), CCND3 (ENSG00000112576), CCNG1 (ENSG00000113328), CCNI (ENSG00000118816), CCND2 (ENSG00000118971), CCNA1 (ENSG00000133101), CCNB1 (ENSG00000134057), CCNJL (ENSG00000135083), CCNA2 (ENSG00000145386), CCNB3 (ENSG00000147082), CCNO (ENSG00000152669), CCNB2 (ENSG00000157456), CCNF (ENSG00000162063), CCNE2 (ENSG00000175305), CCNI2 (ENSG00000205089)
Protein
Protein identifiers
Cyclin-G2 — Q16589 (reviewed: Q16589)
All UniProt accessions (2): Q16589, D6RHI3
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in growth regulation and in negative regulation of cell cycle progression.
Subcellular location. Cytoplasm.
Tissue specificity. High levels in cerebellum, thymus, spleen and prostate. Low levels in skeletal muscle.
Induction. Activated by actinomycin-D induced DNA damage.
Similarity. Belongs to the cyclin family. Cyclin G subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16589-1 | 1 | yes |
| Q16589-2 | 2 |
RefSeq proteins (1): NP_004345* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006671 | Cyclin_N | Domain |
| IPR013763 | Cyclin-like_dom | Domain |
| IPR036915 | Cyclin-like_sf | Homologous_superfamily |
| IPR039361 | Cyclin | Family |
Pfam: PF00134
UniProt features (7 total): sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16589-F1 | 80.23 | 0.52 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-9617828 | FOXO-mediated transcription of cell cycle genes |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9614085 | FOXO-mediated transcription |
MSigDB gene sets: 409 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, AAGCAAT_MIR137, KOBAYASHI_EGFR_SIGNALING_24HR_UP, WANG_CLIM2_TARGETS_UP, JI_RESPONSE_TO_FSH_UP, TGCGCANK_UNKNOWN, HARRIS_HYPOXIA, HOFMANN_CELL_LYMPHOMA_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, AAGCCAT_MIR135A_MIR135B, GOBP_CELL_CYCLE_PHASE_TRANSITION, HOEGERKORP_CD44_TARGETS_TEMPORAL_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, FOXO1_01, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP
GO Biological Process (3): G1/S transition of mitotic cell cycle (GO:0000082), cell division (GO:0051301), regulation of cell cycle (GO:0051726)
GO Molecular Function (1): cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)
GO Cellular Component (3): cyclin-dependent protein kinase holoenzyme complex (GO:0000307), nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| FOXO-mediated transcription | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G1/S phase transition | 1 |
| cellular process | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| cyclin-dependent protein serine/threonine kinase activity | 1 |
| cyclin-dependent protein kinase regulator activity | 1 |
| serine/threonine protein kinase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCNG2 | CCNL2 | Q96S94 | 813 |
| CCNG2 | TP53 | P04637 | 606 |
| CCNG2 | CDK10 | Q15131 | 597 |
| CCNG2 | MDM2 | Q00987 | 595 |
| CCNG2 | CCNH | P51946 | 518 |
| CCNG2 | CCND3 | P30281 | 514 |
| CCNG2 | BMI1 | P35226 | 509 |
| CCNG2 | R4GMX3 | R4GMX3 | 509 |
| CCNG2 | CCNC | P24863 | 488 |
| CCNG2 | BHLHE41 | Q9C0J9 | 476 |
| CCNG2 | CCND1 | P24385 | 471 |
| CCNG2 | BTG2 | P78543 | 470 |
| CCNG2 | GADD45A | P24522 | 470 |
| CCNG2 | CDKN1A | P38936 | 470 |
| CCNG2 | CCND2 | P30279 | 451 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCNG2 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCNG2 | NRIP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCNG2 | NME2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (21): FAM208B (Two-hybrid), EFHC2 (Two-hybrid), PPP2R5D (Affinity Capture-MS), NME2 (Affinity Capture-MS), PPP2R5C (Affinity Capture-MS), PPP2R5E (Affinity Capture-MS), CCNG2 (Affinity Capture-RNA), TCF7L2 (Two-hybrid), CCNG2 (Two-hybrid), PPP2R5B (Affinity Capture-Western), PPP2R5C (Affinity Capture-Western), CCNG2 (Affinity Capture-Western), PPP2CA (Reconstituted Complex), NME2 (Affinity Capture-MS), PPP2R5C (Affinity Capture-MS)
ESM2 similar proteins: A5PK16, O08918, O42575, O96020, P24385, P24864, P25322, P30279, P30280, P30282, P39948, P39949, P39950, P41002, P47794, P48961, P49706, P49707, P50755, P50756, P51944, P51945, P51959, P53782, P55169, Q04827, Q0P5D3, Q16589, Q2KI22, Q32NJ2, Q32NM1, Q52QT8, Q5E9I1, Q5E9K7, Q5R5D0, Q5R6J5, Q5SRT8, Q5T5M9, Q5XGG5, Q61457
Diamond homologs: O08918, P13351, P24868, P24869, P25011, P25012, P25322, P30183, P30278, P30279, P30280, P39950, P46277, P46278, P51945, P51959, Q04827, Q0JIF2, Q0P5D3, Q14094, Q16589, Q39068, Q39069, Q52QT8, Q5E9I1, Q5R5D0, Q61456, Q6AY13, Q6ZMN8, Q8WNW2, Q92161, Q95TJ9, Q9Z2V9, A2YH60, O96020, P04962, P24385, P30281, P30282, P34800
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 1 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1022 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:77158667:GGAG:G | donor_gain | 1.0000 |
| 4:77158668:GAG:G | donor_gain | 1.0000 |
| 4:77158668:GAGG:G | donor_gain | 1.0000 |
| 4:77158670:GGTA:G | donor_loss | 1.0000 |
| 4:77158671:G:GA | donor_loss | 1.0000 |
| 4:77158671:G:GG | donor_gain | 1.0000 |
| 4:77158672:T:G | donor_loss | 1.0000 |
| 4:77159360:A:AG | acceptor_gain | 1.0000 |
| 4:77159362:TGCA:T | acceptor_loss | 1.0000 |
| 4:77159363:GCA:G | acceptor_loss | 1.0000 |
| 4:77159364:CA:C | acceptor_loss | 1.0000 |
| 4:77159365:A:AG | acceptor_gain | 1.0000 |
| 4:77159365:AGAAT:A | acceptor_gain | 1.0000 |
| 4:77159366:G:GG | acceptor_gain | 1.0000 |
| 4:77159366:GA:G | acceptor_gain | 1.0000 |
| 4:77159366:GAA:G | acceptor_gain | 1.0000 |
| 4:77159366:GAAT:G | acceptor_gain | 1.0000 |
| 4:77159366:GAATG:G | acceptor_gain | 1.0000 |
| 4:77159504:GGTA:G | donor_loss | 1.0000 |
| 4:77159506:T:G | donor_loss | 1.0000 |
| 4:77160830:G:GG | donor_gain | 1.0000 |
| 4:77160834:GT:G | donor_gain | 1.0000 |
| 4:77160864:G:GT | donor_gain | 1.0000 |
| 4:77160904:G:GT | donor_gain | 1.0000 |
| 4:77160908:C:G | donor_gain | 1.0000 |
| 4:77161471:A:AG | acceptor_gain | 1.0000 |
| 4:77161471:ATT:A | acceptor_gain | 1.0000 |
| 4:77161475:TATA:T | acceptor_loss | 1.0000 |
| 4:77161476:A:AG | acceptor_gain | 1.0000 |
| 4:77161476:ATAG:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000097436 (4:77161275 T>A,C), RS1000210112 (4:77156996 C>A,T), RS1000242500 (4:77156846 C>T), RS1000278426 (4:77160420 A>C,G), RS1000612531 (4:77159060 C>T), RS1000624755 (4:77156227 G>C), RS1000940662 (4:77165221 G>A), RS1000971765 (4:77164980 G>A), RS1001060202 (4:77158867 G>A,C), RS1001394166 (4:77166124 A>G,T), RS1001502272 (4:77159954 C>T), RS1001617686 (4:77156661 G>A), RS1002034118 (4:77160586 G>A), RS1002201691 (4:77164801 T>C), RS1002348379 (4:77155615 T>C)
Disease associations
OMIM: gene MIM:603203 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008957_1 | Hormone measurements | 6.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010232 | osteocalcin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
151 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 8 |
| Estradiol | affects expression, affects binding, decreases expression, affects cotreatment, increases expression (+2 more) | 7 |
| Fluorouracil | affects response to substance, increases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Arsenic Trioxide | increases expression, affects cotreatment | 4 |
| Cisplatin | increases expression, decreases expression, affects response to substance, affects cotreatment | 4 |
| Tetrachlorodibenzodioxin | increases expression, affects binding, increases reaction, affects cotreatment, affects reaction (+2 more) | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Sirolimus | decreases expression, decreases reaction, affects cotreatment, increases expression | 4 |
| cobaltous chloride | increases expression, decreases reaction | 3 |
| Oxygen | increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| nickel chloride | increases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, affects cotreatment, increases abundance | 2 |
| Benzo(a)pyrene | increases expression, decreases methylation | 2 |
| Drugs, Chinese Herbal | increases expression, decreases expression | 2 |
| Metformin | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Niclosamide | decreases expression, decreases reaction, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| Lithium Chloride | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SH43 | HAP1 CCNG2 (-) 1 | Cancer cell line | Male |
| CVCL_XM55 | HAP1 CCNG2 (-) 2 | 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.