CCNL2
gene geneOn this page
Also known as ania-6bPCEESB138HLA-ISOCCNS
Summary
CCNL2 (cyclin L2, HGNC:20570) is a protein-coding gene on chromosome 1p36.33, encoding Cyclin-L2 (Q96S94). Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing.
The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 81669 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 121 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_030937
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20570 |
| Approved symbol | CCNL2 |
| Name | cyclin L2 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ania-6b, PCEE, SB138, HLA-ISO, CCNS |
| Ensembl gene | ENSG00000221978 |
| Ensembl biotype | protein_coding |
| OMIM | 613482 |
| Entrez | 81669 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 12 protein_coding, 9 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000400809, ENST00000408918, ENST00000418865, ENST00000425598, ENST00000463260, ENST00000463895, ENST00000469113, ENST00000471930, ENST00000473872, ENST00000480479, ENST00000480646, ENST00000481223, ENST00000482365, ENST00000482621, ENST00000488340, ENST00000492998, ENST00000496007, ENST00000497013, ENST00000505849, ENST00000858595, ENST00000858596, ENST00000858597, ENST00000858598, ENST00000858599, ENST00000934645, ENST00000934646, ENST00000934647, ENST00000941190
RefSeq mRNA: 8 — MANE Select: NM_030937
NM_001039577, NM_001320153, NM_001320155, NM_001350497, NM_001350498, NM_001350499, NM_001350500, NM_030937
CCDS: CCDS30557, CCDS30558
Canonical transcript exons
ENST00000400809 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001589041 | 1399019 | 1399335 |
| ENSE00003459548 | 1390459 | 1390563 |
| ENSE00003481685 | 1390230 | 1390371 |
| ENSE00003490441 | 1387954 | 1388065 |
| ENSE00003497083 | 1398597 | 1398671 |
| ENSE00003503679 | 1387777 | 1387869 |
| ENSE00003539724 | 1385711 | 1387582 |
| ENSE00003578981 | 1390766 | 1390865 |
| ENSE00003583101 | 1393396 | 1393460 |
| ENSE00003636572 | 1395394 | 1395514 |
| ENSE00003666121 | 1398233 | 1398342 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 99.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6649 / max 246.0578, expressed in 1816 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9779 | 28.2480 | 1816 |
| 9777 | 0.2226 | 99 |
| 9778 | 0.1943 | 99 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 99.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.27 | gold quality |
| right ovary | UBERON:0002118 | 99.26 | gold quality |
| left ovary | UBERON:0002119 | 99.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.23 | gold quality |
| body of uterus | UBERON:0009853 | 99.22 | gold quality |
| endocervix | UBERON:0000458 | 99.16 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.15 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.11 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.07 | gold quality |
| left uterine tube | UBERON:0001303 | 99.05 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.03 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.93 | gold quality |
| ectocervix | UBERON:0012249 | 98.93 | gold quality |
| tibial nerve | UBERON:0001323 | 98.92 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.91 | gold quality |
| lower esophagus | UBERON:0013473 | 98.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.90 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.90 | gold quality |
| body of pancreas | UBERON:0001150 | 98.89 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.83 | gold quality |
| right lung | UBERON:0002167 | 98.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.82 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.82 | gold quality |
| body of stomach | UBERON:0001161 | 98.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.79 | gold quality |
| pituitary gland | UBERON:0000007 | 98.72 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10137 | no | 425.82 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting CCNL2, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4279 | 99.19 | 66.70 | 2437 |
| HSA-MIR-4801 | 98.96 | 69.42 | 2096 |
| HSA-MIR-4731-3P | 98.56 | 68.60 | 1860 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
Literature-anchored findings (GeneRIF, showing 8)
- characterize cyclin L2 as a highly mobile component of nuclear speckles and suggest that DYRK1A may regulate splicing by phosphorylation of cyclin L2 (PMID:14623875)
- Data show that a green fluorescent protein (GFP) fusion protein of cyclin L1, in contrast to cyclin L2, was not mobile within the nucleus of living COS7 cells. (PMID:17494991)
- CDK11(p110) interacts physically and functionally with cyclin Lalpha and -beta isoforms and SR proteins to regulate splicing. (PMID:18216018)
- CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. (PMID:24218572)
- Therefore, cyclin L2-mediated control of SAMHD1 levels in macrophages supports HIV-1 replication. (PMID:25532805)
- The Dual-Specificity Kinase DYRK1A Modulates the Levels of Cyclin L2 To Control HIV Replication in Macrophages. (PMID:31852782)
- CLK1/SRSF5 pathway induces aberrant exon skipping of METTL14 and Cyclin L2 and promotes growth and metastasis of pancreatic cancer. (PMID:33849617)
- Exosome miR-23a-3p from Osteoblast Alleviates Spinal Cord Ischemia/Reperfusion Injury by Down-Regulating KLF3-Activated CCNL2 Transcription. (PMID:34937039)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ccnl2 | ENSMUSG00000029068 |
| rattus_norvegicus | Ccnl2 | ENSRNOG00000018691 |
| drosophila_melanogaster | CycH | FBGN0022936 |
| drosophila_melanogaster | CycT | FBGN0025455 |
| caenorhabditis_elegans | WBGENE00000507 | |
| caenorhabditis_elegans | WBGENE00000508 | |
| caenorhabditis_elegans | WBGENE00021714 |
Paralogs (6): CCNT2 (ENSG00000082258), CCNK (ENSG00000090061), CCNT1 (ENSG00000129315), CCNH (ENSG00000134480), CCNL1 (ENSG00000163660), CCNQ (ENSG00000262919)
Protein
Protein identifiers
Cyclin-L2 — Q96S94 (reviewed: Q96S94)
Alternative names: Paneth cell-enhanced expression protein
All UniProt accessions (4): Q96S94, C9J148, J3KRL1, J3QSH2
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing. May induce cell death, possibly by acting on the transcription and RNA processing of apoptosis-related factors.
Subunit / interactions. Interacts with the CDK11 (CDK11A or CDK11B) protein kinase to form a serine/threonine kinase holoenzyme complex. Interacts with SAP30BP; promoting assenbly of the cyclin-L-CDK11 cyclin-dependent protein kinase complex. Interacts with POLR2A, the hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II. May form a ternary complex with CDK11B and casein kinase II (CKII). Interacts with pre-mRNA-splicing factors SRSF1, SRSF2 and SRSF7/SLU7.
Subcellular location. Nucleus speckle. Nucleus. Nucleoplasm.
Tissue specificity. Widely expressed.
Domain organisation. Contains a RS region (arginine-serine dipeptide repeat) within the C-terminal domain which is the hallmark of the SR family of splicing factors. This region probably plays a role in protein-protein interactions.
Similarity. Belongs to the cyclin family. Cyclin L subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96S94-1 | 1, cyclin L2alpha | yes |
| Q96S94-2 | 2, CCNL2s | |
| Q96S94-3 | 3 | |
| Q96S94-4 | 4, cyclin L2betaB | |
| Q96S94-5 | 5, cyclin L2betaA |
RefSeq proteins (8): NP_001034666, NP_001307082, NP_001307084, NP_001337426, NP_001337427, NP_001337428, NP_001337429, NP_112199* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004367 | Cyclin_C-dom | Domain |
| IPR006671 | Cyclin_N | Domain |
| IPR013763 | Cyclin-like_dom | Domain |
| IPR036915 | Cyclin-like_sf | Homologous_superfamily |
| IPR043198 | Cyclin/Ssn8 | Family |
Pfam: PF00134, PF21797
UniProt features (28 total): compositionally biased region 7, splice variant 7, modified residue 6, region of interest 4, sequence conflict 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9QKZ | ELECTRON MICROSCOPY | 2.3 |
| 9QKT | ELECTRON MICROSCOPY | 2.4 |
| 9QL1 | ELECTRON MICROSCOPY | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96S94-F1 | 70.06 | 0.46 |
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 (6): 2, 330, 338, 348, 351, 369
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 176 (showing top):
MYOGENIN_Q6, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, KYNG_DNA_DAMAGE_DN, MARTINEZ_RB1_TARGETS_UP, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_NOT_BY_GAMMA_IN_WS, MYOD_01, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_RNA_SPLICING, MYOD_Q6, KYNG_ENVIRONMENTAL_STRESS_RESPONSE_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), regulation of apoptotic process (GO:0042981), regulation of RNA splicing (GO:0043484), regulation of centrosome cycle (GO:0046605), regulation of cell cycle (GO:0051726)
GO Molecular Function (2): cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538), protein binding (GO:0005515)
GO Cellular Component (4): cyclin-dependent protein kinase holoenzyme complex (GO:0000307), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| centrosome cycle | 1 |
| regulation of cell cycle process | 1 |
| regulation of microtubule-based process | 1 |
| regulation of cellular component organization | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| cyclin-dependent protein serine/threonine kinase activity | 1 |
| cyclin-dependent protein kinase regulator activity | 1 |
| binding | 1 |
| serine/threonine protein kinase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
3148 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCNL2 | CDK4 | P11802 | 999 |
| CCNL2 | CDK6 | Q00534 | 999 |
| CCNL2 | CDK2 | P24941 | 999 |
| CCNL2 | CDK1 | P06493 | 999 |
| CCNL2 | CDKN1A | P38936 | 996 |
| CCNL2 | CDKN1B | P46527 | 995 |
| CCNL2 | CDK9 | P50750 | 994 |
| CCNL2 | CDKN2A | P42771 | 962 |
| CCNL2 | CCNA2 | P20248 | 958 |
| CCNL2 | CCND1 | P24385 | 950 |
| CCNL2 | CCNA1 | P78396 | 950 |
| CCNL2 | CDK5 | Q00535 | 933 |
| CCNL2 | CCNB1 | P14635 | 909 |
| CCNL2 | CCND3 | P30281 | 909 |
| CCNL2 | CDK3 | Q00526 | 903 |
IntAct
53 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLOCK | BMAL1 | psi-mi:“MI:0914”(association) | 0.880 |
| CSNK2A1 | EIF3J | psi-mi:“MI:0914”(association) | 0.810 |
| GATAD2A | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.730 |
| KIFAP3 | KIF3C | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| CCNL2 | RUNDC3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNDC3A | CCNL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCNL2 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| CDK11A | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | RPSA | psi-mi:“MI:0914”(association) | 0.530 |
| DHX40 | TRIM27 | psi-mi:“MI:0914”(association) | 0.530 |
| CCNL2 | TUFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCNL2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Racgap1 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| Oxnad1 | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
| Bcas2 | PEX10 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | TRAK1 | psi-mi:“MI:0914”(association) | 0.350 |
| JAK3 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF22 | PSEN2 | psi-mi:“MI:0914”(association) | 0.350 |
| CBR3 | LDLR | psi-mi:“MI:0914”(association) | 0.350 |
| CENPQ | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| JMJD6 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| CDK11A | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| RNPS1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (139): CCNL2 (Two-hybrid), SMPDL3B (Affinity Capture-MS), GNAZ (Affinity Capture-MS), GNA11 (Affinity Capture-MS), GNAQ (Affinity Capture-MS), PTPRG (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), FYN (Affinity Capture-MS), YES1 (Affinity Capture-MS), LYN (Affinity Capture-MS), SRC (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), PYGB (Affinity Capture-MS), IRF2BP2 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS)
ESM2 similar proteins: A7DTF0, A8X0L9, C8VBH4, G5EBX3, O94446, P0CP02, P0CP03, P14785, P34424, P34425, P34442, P34638, P54816, Q06698, Q19336, Q20318, Q21209, Q22712, Q23243, Q23356, Q23357, Q23541, Q2UMQ5, Q2UTN6, Q4IB50, Q4IEV4, Q4P3S3, Q4WHG1, Q52KE7, Q5A7Q2, Q5ASA5, Q5BKF8, Q5I0H5, Q5ZJP9, Q61T02, Q6AW06, Q6BU95, Q6C710, Q6GN15, Q7RZU4
Diamond homologs: A3LPX1, F1QMB9, O60563, O60583, O74627, O75909, O88874, O96433, P24863, P47821, P55168, Q0E474, Q28F72, Q2QQS5, Q2RAC5, Q3ZCK5, Q4KLA0, Q52KE7, Q56YF8, Q5I0H5, Q5RD50, Q5ZJP9, Q62447, Q6GN15, Q6T8E9, Q6Z7H3, Q7TQK0, Q7ZVX0, Q8GYM6, Q8HXN7, Q8RWV3, Q96S94, Q9AS36, Q9C8P7, Q9FKE6, Q9JJA7, Q9QWV9, Q9R1Q2, Q9UK58, Q9XT26
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DYRK1A | unknown | CCNL2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 74 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 |
|---|---|---|---|
| Regulation of PTEN stability and activity | 5 | 16.2× | 2e-03 |
| Potential therapeutics for SARS | 5 | 10.0× | 6e-03 |
| mRNA Splicing | 5 | 9.6× | 7e-03 |
| Metabolism of RNA | 8 | 5.8× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA splicing | 6 | 7.8× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 97 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2338 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1387583:C:CC | acceptor_gain | 1.0000 |
| 1:1387775:ACCT:A | donor_gain | 1.0000 |
| 1:1387776:CCT:C | donor_gain | 1.0000 |
| 1:1387776:CCTC:C | donor_gain | 1.0000 |
| 1:1387778:T:TA | donor_gain | 1.0000 |
| 1:1387865:GCAAG:G | acceptor_gain | 1.0000 |
| 1:1387866:CAAG:C | acceptor_gain | 1.0000 |
| 1:1387866:CAAGC:C | acceptor_gain | 1.0000 |
| 1:1387867:AAG:A | acceptor_gain | 1.0000 |
| 1:1387868:AG:A | acceptor_gain | 1.0000 |
| 1:1387869:GC:G | acceptor_loss | 1.0000 |
| 1:1387870:C:CC | acceptor_gain | 1.0000 |
| 1:1387872:G:C | acceptor_gain | 1.0000 |
| 1:1387877:C:CT | acceptor_gain | 1.0000 |
| 1:1387949:CCTA:C | donor_loss | 1.0000 |
| 1:1387950:CTAC:C | donor_loss | 1.0000 |
| 1:1387951:TA:T | donor_loss | 1.0000 |
| 1:1387952:A:AC | donor_gain | 1.0000 |
| 1:1387952:AC:A | donor_gain | 1.0000 |
| 1:1387953:C:A | donor_gain | 1.0000 |
| 1:1387953:C:CC | donor_gain | 1.0000 |
| 1:1387953:CCCGT:C | donor_gain | 1.0000 |
| 1:1388061:TTCCA:T | acceptor_gain | 1.0000 |
| 1:1388062:TCCA:T | acceptor_gain | 1.0000 |
| 1:1388063:CCA:C | acceptor_gain | 1.0000 |
| 1:1388063:CCAC:C | acceptor_gain | 1.0000 |
| 1:1388064:C:T | acceptor_gain | 1.0000 |
| 1:1388064:CA:C | acceptor_gain | 1.0000 |
| 1:1388064:CAC:C | acceptor_gain | 1.0000 |
| 1:1388066:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3354 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1390539:A:G | W262R | 1.000 |
| 1:1390539:A:T | W262R | 1.000 |
| 1:1390793:G:C | C244W | 1.000 |
| 1:1390794:C:T | C244Y | 1.000 |
| 1:1390803:G:T | A241D | 1.000 |
| 1:1390847:G:C | S226R | 1.000 |
| 1:1390847:G:T | S226R | 1.000 |
| 1:1390849:T:G | S226R | 1.000 |
| 1:1390853:G:C | N224K | 1.000 |
| 1:1390853:G:T | N224K | 1.000 |
| 1:1393397:A:G | W220R | 1.000 |
| 1:1393397:A:T | W220R | 1.000 |
| 1:1395399:G:C | H197D | 1.000 |
| 1:1395401:G:T | P196H | 1.000 |
| 1:1395416:A:T | V191D | 1.000 |
| 1:1395421:G:C | F189L | 1.000 |
| 1:1395421:G:T | F189L | 1.000 |
| 1:1395422:A:C | F189C | 1.000 |
| 1:1395422:A:G | F189S | 1.000 |
| 1:1395423:A:C | F189V | 1.000 |
| 1:1395423:A:G | F189L | 1.000 |
| 1:1395423:A:T | F189I | 1.000 |
| 1:1395437:A:G | L184P | 1.000 |
| 1:1395437:A:T | L184H | 1.000 |
| 1:1395445:T:A | R181S | 1.000 |
| 1:1395445:T:G | R181S | 1.000 |
| 1:1395449:T:A | E180V | 1.000 |
| 1:1395469:C:A | K173N | 1.000 |
| 1:1395469:C:G | K173N | 1.000 |
| 1:1398307:C:A | K133N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027876 (1:1395842 T>C), RS1000308546 (1:1392445 G>A,C), RS1000334281 (1:1397605 T>C), RS1000366882 (1:1397805 T>C), RS1000553473 (1:1391478 C>T), RS1000646688 (1:1391224 T>C), RS1000716129 (1:1396895 C>A), RS1000781317 (1:1400500 C>G,T), RS1000856398 (1:1400658 A>C), RS1000942243 (1:1386143 T>TG), RS1001084839 (1:1396494 G>A), RS1001191484 (1:1399749 C>A,T), RS1001771090 (1:1389141 G>A,C), RS1002003830 (1:1393608 G>A), RS1002028434 (1:1385590 C>T)
Disease associations
OMIM: gene MIM:613482 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_103 | Inflammatory bowel disease | 2.000000e-07 |
| GCST004133_40 | Ulcerative colitis | 3.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (4): CHEMBL5483186 (PROTEIN COMPLEX), CHEMBL5483187 (PROTEIN COMPLEX), CHEMBL5483188 (PROTEIN COMPLEX), CHEMBL6067576 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.80 | Kd | 16 | nM | MOLIBRESIB |
| 7.30 | IC50 | 50 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179186: Binding affinity against CCNL2 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0160 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects binding, increases reaction, decreases expression (+1 more) | 5 |
| bisphenol A | decreases methylation, affects expression, affects cotreatment | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | decreases expression, affects cotreatment | 1 |
| Endosulfan | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects expression, affects reaction | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects expression, affects reaction | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Zidovudine | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
19 unique, capped per target: 19 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5469150 | Binding | Selectivity interaction (NanoBRET assay in HEK293T cells) EUB0000121b CDK10 | Selectivity Literature for EUbOPEN Chemogenomic Library |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2TP | Abcam HEK293T CCNL2 KO | Transformed cell line | Female |
| CVCL_SH45 | HAP1 CCNL2 (-) | 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.