CCNDBP1
gene geneOn this page
Also known as DIP1GCIPHHM
Summary
CCNDBP1 (cyclin D1 binding protein 1, HGNC:1587) is a protein-coding gene on chromosome 15q15.2, encoding Cyclin-D1-binding protein 1 (O95273). May negatively regulate cell cycle progression.
This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene.
Source: NCBI Gene 23582 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 71 total — 1 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_012142
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1587 |
| Approved symbol | CCNDBP1 |
| Name | cyclin D1 binding protein 1 |
| Location | 15q15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIP1, GCIP, HHM |
| Ensembl gene | ENSG00000166946 |
| Ensembl biotype | protein_coding |
| OMIM | 607089 |
| Entrez | 23582 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 7 retained_intron, 7 nonsense_mediated_decay, 6 protein_coding
ENST00000300213, ENST00000444658, ENST00000562553, ENST00000563065, ENST00000564630, ENST00000565296, ENST00000565958, ENST00000566515, ENST00000566833, ENST00000566882, ENST00000567434, ENST00000567690, ENST00000568507, ENST00000568936, ENST00000569745, ENST00000864042, ENST00000864043, ENST00000915942, ENST00000915943, ENST00000958193
RefSeq mRNA: 1 — MANE Select: NM_012142
NM_012142
CCDS: CCDS10092
Canonical transcript exons
ENST00000300213 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001930284 | 43185403 | 43185607 |
| ENSE00003493259 | 43194727 | 43197177 |
| ENSE00003496958 | 43190325 | 43190398 |
| ENSE00003500207 | 43191395 | 43191675 |
| ENSE00003523679 | 43194415 | 43194461 |
| ENSE00003533585 | 43190055 | 43190151 |
| ENSE00003607755 | 43192743 | 43192803 |
| ENSE00003633577 | 43185820 | 43185879 |
| ENSE00003660645 | 43190966 | 43191042 |
| ENSE00003677031 | 43186154 | 43186233 |
| ENSE00003693373 | 43189199 | 43189280 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 98.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.1320 / max 868.3864, expressed in 1826 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146292 | 36.5084 | 1823 |
| 146296 | 2.7584 | 715 |
| 146293 | 1.5885 | 875 |
| 146295 | 0.6589 | 328 |
| 146291 | 0.5311 | 281 |
| 146294 | 0.0866 | 26 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 98.44 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.06 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.04 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.02 | gold quality |
| bone marrow | UBERON:0002371 | 97.88 | gold quality |
| right uterine tube | UBERON:0001302 | 97.73 | gold quality |
| blood | UBERON:0000178 | 97.68 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.44 | gold quality |
| placenta | UBERON:0001987 | 97.38 | gold quality |
| upper arm skin | UBERON:0004263 | 97.29 | gold quality |
| leukocyte | CL:0000738 | 97.24 | gold quality |
| monocyte | CL:0000576 | 97.21 | gold quality |
| bone element | UBERON:0001474 | 97.21 | gold quality |
| granulocyte | CL:0000094 | 97.01 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.61 | gold quality |
| bone marrow cell | CL:0002092 | 96.60 | gold quality |
| myocardium | UBERON:0002349 | 96.34 | gold quality |
| pons | UBERON:0000988 | 96.16 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.11 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.11 | gold quality |
| right coronary artery | UBERON:0001625 | 96.10 | gold quality |
| ascending aorta | UBERON:0001496 | 96.09 | gold quality |
| spleen | UBERON:0002106 | 96.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.97 | gold quality |
| right lung | UBERON:0002167 | 95.95 | gold quality |
| aorta | UBERON:0000947 | 95.93 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.90 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.87 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.82 | gold quality |
| left coronary artery | UBERON:0001626 | 95.82 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 42.63 |
| E-MTAB-6701 | yes | 39.34 |
| E-MTAB-10042 | yes | 34.39 |
| E-MTAB-9221 | yes | 11.19 |
| E-HCAD-9 | yes | 6.96 |
| E-HCAD-10 | yes | 4.09 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting CCNDBP1, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
Literature-anchored findings (GeneRIF, showing 14)
- In transgenic mice, GCIP functions as a transcriptional suppressor, regulates cyclin D1 expression, inhibits cell growth and colony formation in human HepG2 cells, suggesting GCIP plays a significant role in tumor initiation and development. (PMID:16501603)
- CT847 interacts with mammalian Grap2 cyclin D-interacting protein (PMID:17532760)
- P0 overexpression may cause tumorigenesis in breast and liver tissues at least in part by inhibiting GCIP-mediated tumor suppression. (PMID:17621266)
- Data suggest that HHM/Maid regulates a subset of TGF-beta target genes including the Olig1-Smad synexpression group. (PMID:18923419)
- decreased expression of GCIP in vivo is present in human breast carcinoma. (PMID:18983464)
- Crystallization and preliminary X-ray diffraction analysis of GCIP/HHM transcriptional regulator (PMID:19153449)
- It is proposed for the first time that Rad may promote carcinogenesis at least in part by inhibiting GCIP-mediated tumor suppression. (PMID:20460530)
- The first structure of a free-standing human dominant-negative helix-loop-helix protein (DIP1) was reported. DIP1 adopts a V-shaped conformation, with N-terminal and C-terminal five-helix bundles connected by the HLH region. (PMID:22453338)
- Data indicate that grap2 and cyclin D1 interacting protein (GCIP) and inhibitor of of DNA binding/differentiation 1 (Id1) are inversely expressed in non-small cell lung cancer (NSCLC) cell lines and specimens. (PMID:24970809)
- Data suggest MAID/CCNDBP1 inhibits cell migration induced by TGFB1 (transforming growth factor-beta1) but not by BMP4 (bone morphogenetic protein-4); MAID does not alter cell proliferation, epithelial-mesenchymal transition, or TGFB3-induced apoptosis. (PMID:26002959)
- GCIP underexpression is associated with Osteosarcoma. (PMID:26107195)
- MEK2 is a critical modulating mechanism to down-regulate GCIP stability and function in cancer cells. (PMID:31907980)
- Grap2 cyclin D interacting protein negatively regulates CREBbinding protein, inhibiting fibroblastlike synoviocyte growth. (PMID:33576455)
- rs66651343 and rs12909095 confer lung cancer risk by regulating CCNDBP1 expression. (PMID:37058478)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccndbp1 | ENSDARG00000039328 |
| mus_musculus | Ccndbp1 | ENSMUSG00000023572 |
| rattus_norvegicus | Ccndbp1 | ENSRNOG00000011379 |
Protein
Protein identifiers
Cyclin-D1-binding protein 1 — O95273 (reviewed: O95273)
Alternative names: Grap2 and cyclin-D-interacting protein, Human homolog of Maid
All UniProt accessions (4): O95273, H3BQA6, H3BR23, H3BUF4
UniProt curated annotations — full annotation on UniProt →
Function. May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription.
Subunit / interactions. Interacts with CCND1 and GRAP2. May also interact with COPS5, RPLP0, SIRT6, SYF2 and TCF3.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitously expressed. Expression is down-regulated in a variety of tumor types including breast, colon, prostate and rectal tumors, and is up-regulated in certain hepatic carcinomas.
Post-translational modifications. Phosphorylated.
Induction. Expression is induced by sodium butyrate, an inhibitor of colon cancer cell proliferation.
Similarity. Belongs to the CCNDBP1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95273-1 | 1 | yes |
| O95273-2 | 2 | |
| O95273-3 | 3 | |
| O95273-4 | 4 |
RefSeq proteins (1): NP_036274* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026907 | GCIP-like | Family |
| IPR049317 | GCIP-like_N | Domain |
| IPR049318 | GCIP_C | Domain |
Pfam: PF13324, PF20936
UniProt features (38 total): helix 13, sequence conflict 9, splice variant 5, region of interest 5, strand 2, initiator methionine 1, chain 1, turn 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3AY5 | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95273-F1 | 87.38 | 0.71 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 114 (showing top):
MODULE_151, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, ONKEN_UVEAL_MELANOMA_UP, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, DOUGLAS_BMI1_TARGETS_DN, MODULE_114, GOCC_NUCLEAR_BODY, DOANE_BREAST_CANCER_CLASSES_UP, WGTTNNNNNAAA_UNKNOWN, SCGGAAGY_ELK1_02, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, BRUINS_UVC_RESPONSE_LATE, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, WAMUNYOKOLI_OVARIAN_CANCER_GRADES_1_2_UP
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1287 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCNDBP1 | SYF2 | O95926 | 955 |
| CCNDBP1 | GRAP2 | O75791 | 914 |
| CCNDBP1 | CCND1 | P24385 | 549 |
| CCNDBP1 | CDK4 | P11802 | 543 |
| CCNDBP1 | OLIG1 | Q8TAK6 | 535 |
| CCNDBP1 | TFPT | P0C1Z6 | 532 |
| CCNDBP1 | E2F1 | Q01094 | 500 |
| CCNDBP1 | MRPL55 | Q7Z7F7 | 455 |
| CCNDBP1 | BEAN1 | Q3B7T3 | 415 |
| CCNDBP1 | GUCA1C | O95843 | 406 |
| CCNDBP1 | RPLP0 | P05388 | 399 |
| CCNDBP1 | DDX43 | Q9NXZ2 | 397 |
| CCNDBP1 | SLCO6A1 | Q86UG4 | 390 |
| CCNDBP1 | GUCA1A | P43080 | 374 |
| CCNDBP1 | LRRC57 | Q8N9N7 | 363 |
IntAct
477 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCNDBP1 | RPLP0 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RPLP0 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RPL28 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCNDBP1 | TRAPPC5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF707 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MRPL15 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCNDBP1 | RPL28 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCNDBP1 | ZNF707 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRAPPC5 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCNDBP1 | MRPL15 | psi-mi:“MI:0915”(physical association) | 0.780 |
| IMP3 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| CCNDBP1 | IMP3 | psi-mi:“MI:0915”(physical association) | 0.760 |
| PSMB10 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZNF136 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CCNDBP1 | ZNF627 | psi-mi:“MI:0915”(physical association) | 0.740 |
| THAP10 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CCNDBP1 | PSMB10 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CCNDBP1 | ZNF136 | psi-mi:“MI:0915”(physical association) | 0.740 |
BioGRID (217): CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid), CCNDBP1 (Two-hybrid)
ESM2 similar proteins: A2CEI4, A3KNI7, B7ZC77, E7FBU4, G8JYB2, O35095, O43156, O46037, O75800, O88327, O95273, P0DX19, P26231, P35220, P35221, Q08CY4, Q0V9L1, Q14746, Q2KIZ9, Q2KJ97, Q3MHM6, Q3TVC7, Q4R809, Q59I72, Q5BK06, Q5RC06, Q5RFN4, Q5U4I3, Q65CL1, Q69ZR2, Q6GPP1, Q6NVK9, Q6NY52, Q7T006, Q803M5, Q8BTG3, Q8C3S2, Q8JGR7, Q8K2Z4, Q91V83
Diamond homologs: A3KNI7, O95273, Q2KIZ9, Q3TVC7, Q4R809, Q5BK06, Q5RFN4, Q5U4I3, Q2HJB9, Q6INX1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 64 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 |
|---|---|---|---|
| Major pathway of rRNA processing in the nucleolus and cytosol | 5 | 8.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 51 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 154069 | GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 | Pathogenic |
| 980033 | GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1 | Likely pathogenic |
SpliceAI
1126 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:43185605:GGG:G | donor_gain | 1.0000 |
| 15:43185606:GG:G | donor_gain | 1.0000 |
| 15:43185606:GGG:G | donor_gain | 1.0000 |
| 15:43185607:GG:G | donor_gain | 1.0000 |
| 15:43185608:G:C | donor_loss | 1.0000 |
| 15:43185608:G:GG | donor_gain | 1.0000 |
| 15:43185609:T:A | donor_loss | 1.0000 |
| 15:43185790:C:A | acceptor_gain | 1.0000 |
| 15:43189279:GG:G | donor_gain | 1.0000 |
| 15:43189280:GG:G | donor_gain | 1.0000 |
| 15:43189280:GGTA:G | donor_loss | 1.0000 |
| 15:43189281:G:GG | donor_gain | 1.0000 |
| 15:43189281:GTA:G | donor_loss | 1.0000 |
| 15:43189282:T:TC | donor_loss | 1.0000 |
| 15:43189290:A:G | donor_gain | 1.0000 |
| 15:43190123:G:GT | donor_gain | 1.0000 |
| 15:43190123:G:T | donor_gain | 1.0000 |
| 15:43190323:A:AG | acceptor_gain | 1.0000 |
| 15:43190324:G:GC | acceptor_gain | 1.0000 |
| 15:43190324:GCCCT:G | acceptor_gain | 1.0000 |
| 15:43190395:AGAGG:A | donor_loss | 1.0000 |
| 15:43190396:GAG:G | donor_gain | 1.0000 |
| 15:43190397:AGGT:A | donor_loss | 1.0000 |
| 15:43190400:TGAG:T | donor_loss | 1.0000 |
| 15:43190958:A:AG | acceptor_gain | 1.0000 |
| 15:43190959:C:G | acceptor_gain | 1.0000 |
| 15:43190963:T:G | acceptor_gain | 1.0000 |
| 15:43190963:TA:T | acceptor_loss | 1.0000 |
| 15:43190964:A:AC | acceptor_loss | 1.0000 |
| 15:43190964:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2378 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:43191668:A:C | S285R | 0.989 |
| 15:43191670:C:A | S285R | 0.989 |
| 15:43191670:C:G | S285R | 0.989 |
| 15:43191022:G:C | A187P | 0.982 |
| 15:43191638:G:C | D275H | 0.980 |
| 15:43194425:T:C | L311P | 0.979 |
| 15:43191545:T:C | C244R | 0.978 |
| 15:43191555:T:C | L247P | 0.978 |
| 15:43192762:A:C | S294R | 0.978 |
| 15:43192764:C:A | S294R | 0.978 |
| 15:43192764:C:G | S294R | 0.978 |
| 15:43191534:T:C | L240P | 0.974 |
| 15:43191512:T:A | W233R | 0.973 |
| 15:43191512:T:C | W233R | 0.973 |
| 15:43189280:G:A | G111R | 0.971 |
| 15:43189280:G:C | G111R | 0.971 |
| 15:43191395:G:C | A194P | 0.970 |
| 15:43189280:G:T | G111W | 0.969 |
| 15:43191636:T:C | L274P | 0.969 |
| 15:43194731:A:C | S325R | 0.969 |
| 15:43194733:T:A | S325R | 0.969 |
| 15:43194733:T:G | S325R | 0.969 |
| 15:43191023:C:A | A187E | 0.968 |
| 15:43191639:A:T | D275V | 0.967 |
| 15:43192793:T:A | V304E | 0.967 |
| 15:43192796:G:C | R305P | 0.964 |
| 15:43190977:G:C | A172P | 0.963 |
| 15:43190079:G:C | R119P | 0.962 |
| 15:43191014:T:A | V184E | 0.962 |
| 15:43191547:C:G | C244W | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000290912 (15:43195853 T>G), RS1000395794 (15:43185269 A>C), RS1000851707 (15:43192189 A>G), RS1000882624 (15:43192577 A>G), RS1001087700 (15:43188005 G>T), RS1001120282 (15:43188366 G>A), RS1001457705 (15:43188326 T>C), RS1001604468 (15:43184675 A>G), RS1002090215 (15:43189572 C>G), RS1002122822 (15:43189976 T>C), RS1002163447 (15:43196480 GT>G), RS1002470725 (15:43197575 C>T), RS1002702186 (15:43193158 C>A,T), RS1002794074 (15:43195124 T>C), RS1002880184 (15:43183973 A>G)
Disease associations
OMIM: gene MIM:607089 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
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: yes
ChEMBL targets (1): CHEMBL4742266 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Estradiol | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Aldehydes | decreases expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Carbon Tetrachloride | decreases response to substance | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Diethylnitrosamine | decreases response to substance | 1 |
| Dimethyl Sulfoxide | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Thiosemicarbazones | affects binding, increases expression | 1 |
| Urethane | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4713784 | Binding | Protac activity at CRBN/CCNDBP1 in human BxPC-3 cells assessed as CCNDBP1 degradation incubated for 16 hrs by proteomic analysis | Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem |
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.