RPRD2
gene geneOn this page
Also known as FLJ32145HSPC099
Summary
RPRD2 (regulation of nuclear pre-mRNA domain containing 2, HGNC:29039) is a protein-coding gene on chromosome 1q21.2, encoding Regulation of nuclear pre-mRNA domain-containing protein 2 (Q5VT52). It is a selective cancer dependency (DepMap: 12.3% of cell lines).
Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in mRNA 3’-end processing. Part of transcription preinitiation complex.
Source: NCBI Gene 23248 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 171 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 12.3% of screened cell lines
- MANE Select transcript:
NM_015203
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29039 |
| Approved symbol | RPRD2 |
| Name | regulation of nuclear pre-mRNA domain containing 2 |
| Location | 1q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32145, HSPC099 |
| Ensembl gene | ENSG00000163125 |
| Ensembl biotype | protein_coding |
| OMIM | 614695 |
| Entrez | 23248 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000369067, ENST00000369068, ENST00000401000, ENST00000492220, ENST00000879564, ENST00000879565, ENST00000912741
RefSeq mRNA: 14 — MANE Select: NM_015203
NM_001297673, NM_001297674, NM_001387114, NM_001387115, NM_001387116, NM_001387117, NM_001387118, NM_001387119, NM_001387120, NM_001387121, NM_001387122, NM_001387123, NM_001387124, NM_015203
CCDS: CCDS44216, CCDS72907
Canonical transcript exons
ENST00000369068 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001152765 | 150441881 | 150441958 |
| ENSE00001310077 | 150470561 | 150476566 |
| ENSE00001921038 | 150364147 | 150364919 |
| ENSE00003484463 | 150464527 | 150464727 |
| ENSE00003506959 | 150443231 | 150443283 |
| ENSE00003524930 | 150460060 | 150460317 |
| ENSE00003535813 | 150417596 | 150417725 |
| ENSE00003556770 | 150446226 | 150446401 |
| ENSE00003610396 | 150444251 | 150444377 |
| ENSE00003625524 | 150440923 | 150441023 |
| ENSE00003686784 | 150457288 | 150457570 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1481 / max 257.3151, expressed in 1809 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5103 | 12.6428 | 1781 |
| 5098 | 6.5803 | 1592 |
| 5099 | 5.5325 | 1534 |
| 5102 | 1.4455 | 921 |
| 5096 | 0.8946 | 369 |
| 5097 | 0.5527 | 311 |
| 5101 | 0.2798 | 143 |
| 5100 | 0.2201 | 107 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.53 | gold quality |
| superficial temporal artery | UBERON:0001614 | 95.03 | gold quality |
| oocyte | CL:0000023 | 94.96 | gold quality |
| olfactory bulb | UBERON:0002264 | 94.54 | silver quality |
| diaphragm | UBERON:0001103 | 94.40 | silver quality |
| nipple | UBERON:0002030 | 94.39 | gold quality |
| endothelial cell | CL:0000115 | 94.25 | gold quality |
| renal medulla | UBERON:0000362 | 94.13 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.86 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.20 | gold quality |
| pylorus | UBERON:0001166 | 92.62 | gold quality |
| type B pancreatic cell | CL:0000169 | 92.34 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.22 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.00 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 91.86 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.71 | gold quality |
| endometrium epithelium | UBERON:0004811 | 91.67 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 91.18 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.12 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 91.10 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.96 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.80 | gold quality |
| superior surface of tongue | UBERON:0007371 | 90.62 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.61 | gold quality |
| vastus lateralis | UBERON:0001379 | 90.59 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 90.50 | gold quality |
| saphenous vein | UBERON:0007318 | 90.47 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 90.32 | gold quality |
| pericardium | UBERON:0002407 | 90.27 | gold quality |
| medulla oblongata | UBERON:0001896 | 90.13 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
142 targeting RPRD2, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| 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-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 12.3% of screened cell lines.
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rprd2a | ENSDARG00000058089 |
| danio_rerio | rprd2b | ENSDARG00000074676 |
| mus_musculus | Rprd2 | ENSMUSG00000028106 |
| rattus_norvegicus | Rprd2 | ENSRNOG00000054294 |
| drosophila_melanogaster | CG15160 | FBGN0032688 |
| caenorhabditis_elegans | cids-2 | WBGENE00009451 |
Paralogs (2): RPRD1B (ENSG00000101413), RPRD1A (ENSG00000141425)
Protein
Protein identifiers
Regulation of nuclear pre-mRNA domain-containing protein 2 — Q5VT52 (reviewed: Q5VT52)
All UniProt accessions (1): Q5VT52
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Associates with the RNA polymerase II complex.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VT52-1 | 1 | yes |
| Q5VT52-2 | 2 | |
| Q5VT52-3 | 3 | |
| Q5VT52-4 | 4 | |
| Q5VT52-5 | 5 |
RefSeq proteins (14): NP_001284602, NP_001284603, NP_001374043, NP_001374044, NP_001374045, NP_001374046, NP_001374047, NP_001374048, NP_001374049, NP_001374050, NP_001374051, NP_001374052, NP_001374053, NP_056018* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006569 | CID_dom | Domain |
| IPR008942 | ENTH_VHS | Homologous_superfamily |
| IPR047885 | RPRD2_CID | Domain |
Pfam: PF04818
UniProt features (90 total): modified residue 37, compositionally biased region 20, helix 9, region of interest 8, splice variant 6, sequence conflict 4, turn 2, initiator methionine 1, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4FLB | X-RAY DIFFRACTION | 1.8 |
| 9HM8 | SOLUTION NMR | |
| 9IA7 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VT52-F1 | 48.32 | 0.14 |
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 (37): 2, 16, 356, 358, 374, 473, 476, 479, 482, 485, 517, 564, 593, 598, 614, 663, 665, 716, 723, 730 …
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 197 (showing top):
HORIUCHI_WTAP_TARGETS_DN, MAZ_Q6, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, AREB6_01, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, PATIL_LIVER_CANCER, MORF_RAF1, YY1_02, MORF_FANCG, GOBP_MRNA_3_END_PROCESSING, GFI1_01, WHN_B, ZHANG_BREAST_CANCER_PROGENITORS_UP, MORF_IKBKG
GO Biological Process (1): mRNA 3’-end processing (GO:0031124)
GO Molecular Function (2): RNA polymerase II complex binding (GO:0000993), RNA polymerase II C-terminal domain binding (GO:0099122)
GO Cellular Component (2): nucleoplasm (GO:0005654), transcription preinitiation complex (GO:0097550)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mRNA processing | 1 |
| RNA 3’-end processing | 1 |
| RNA polymerase core enzyme binding | 1 |
| RNA polymerase II complex binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| protein-DNA complex | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPRD2 | RPAP2 | Q8IXW5 | 777 |
| RPRD2 | RECQL5 | O94762 | 570 |
| RPRD2 | SCAF8 | Q9UPN6 | 566 |
| RPRD2 | PCF11 | O94913 | 556 |
| RPRD2 | PRRC2C | Q9Y520 | 513 |
| RPRD2 | GPN1 | Q9HCN4 | 511 |
| RPRD2 | BCL7A | Q4VC05 | 492 |
| RPRD2 | SCAF4 | O95104 | 490 |
| RPRD2 | ZNF462 | Q96JM2 | 449 |
| RPRD2 | RPAP3 | Q9H6T3 | 448 |
| RPRD2 | FAM171B | Q6P995 | 443 |
| RPRD2 | CD164L2 | Q6UWJ8 | 429 |
| RPRD2 | TFAP4 | Q01664 | 425 |
| RPRD2 | MCM7 | P33993 | 418 |
| RPRD2 | RAB39A | Q14964 | 401 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| POLR2D | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2E | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | RECQL5 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2G | RECQL5 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2J | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| HIF1AN | GMDS | psi-mi:“MI:0914”(association) | 0.640 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2M | BIN1 | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2J | MED14 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| RPRD2 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPRD2 | WWOX | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPRD2 | CTDSP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPRD2 | PPP1CA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Rprd1b | POLR2B | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR2M | MED19 | psi-mi:“MI:0914”(association) | 0.350 |
| RPAP2 | APOC3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPRD1A | RECQL5 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6KL1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| LIN28A | AGPS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (197): RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Proximity Label-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Affinity Capture-MS), RPRD2 (Synthetic Lethality)
ESM2 similar proteins: A0JNI5, A2AJT4, D3ZTQ1, O75151, O75376, P35269, P49140, P70501, P98175, Q05519, Q12872, Q2NLB0, Q3THK3, Q3UQU0, Q3USH5, Q3ZC82, Q4KKX4, Q53F19, Q5BL56, Q5EA53, Q5HZB6, Q5SFM8, Q5T8P6, Q5U3K5, Q5VT52, Q5ZM19, Q60974, Q62415, Q6AY96, Q6DFQ2, Q6NXI6, Q6NZN0, Q6PJT7, Q6WKW9, Q6ZQ03, Q7Z7F0, Q80TJ7, Q80WC1, Q8BZR9, Q8CFC7
Diamond homologs: Q5VT52, Q6NXI6, Q9CSU0, Q9NQG5, Q5ZM30, Q0P5J9, Q5R8Y3, Q8VDS4, Q96P16
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| FGFR2 mutant receptor activation | 6 | 55.0× | 2e-08 |
| Signaling by FGFR2 IIIa TM | 6 | 43.5× | 5e-08 |
| Activation of HOX genes during differentiation | 8 | 42.3× | 4e-10 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 7 | 41.9× | 5e-09 |
| FGFR2 alternative splicing | 7 | 35.7× | 2e-08 |
| Pausing and recovery of Tat-mediated HIV elongation | 8 | 35.5× | 1e-09 |
| Tat-mediated HIV elongation arrest and recovery | 8 | 35.5× | 1e-09 |
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 7 | 34.4× | 2e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 5 | 29.6× | 1e-04 |
| positive regulation of transcription elongation by RNA polymerase II | 5 | 15.3× | 2e-03 |
| mRNA transport | 5 | 13.4× | 3e-03 |
| mRNA splicing, via spliceosome | 14 | 13.1× | 2e-09 |
| negative regulation of translation | 6 | 12.0× | 1e-03 |
| RNA splicing | 11 | 9.9× | 5e-06 |
| mRNA processing | 10 | 8.0× | 1e-04 |
| transcription by RNA polymerase II | 8 | 5.8× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
171 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 150 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1946 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:150364915:GAGAT:G | donor_gain | 1.0000 |
| 1:150364917:GAT:G | donor_gain | 1.0000 |
| 1:150364918:ATG:A | donor_loss | 1.0000 |
| 1:150364919:TGTG:T | donor_loss | 1.0000 |
| 1:150364920:G:C | donor_loss | 1.0000 |
| 1:150364920:G:GG | donor_gain | 1.0000 |
| 1:150364921:T:A | donor_loss | 1.0000 |
| 1:150417584:T:TA | acceptor_gain | 1.0000 |
| 1:150417588:A:AG | acceptor_gain | 1.0000 |
| 1:150417589:T:G | acceptor_gain | 1.0000 |
| 1:150417594:A:AG | acceptor_gain | 1.0000 |
| 1:150417595:G:GG | acceptor_gain | 1.0000 |
| 1:150417595:GCT:G | acceptor_gain | 1.0000 |
| 1:150417595:GCTGC:G | acceptor_gain | 1.0000 |
| 1:150417721:GTGAA:G | donor_gain | 1.0000 |
| 1:150417722:TGAA:T | donor_gain | 1.0000 |
| 1:150417723:GAA:G | donor_gain | 1.0000 |
| 1:150417723:GAAG:G | donor_gain | 1.0000 |
| 1:150417724:AA:A | donor_gain | 1.0000 |
| 1:150417725:AGTA:A | donor_loss | 1.0000 |
| 1:150417726:GTAA:G | donor_gain | 1.0000 |
| 1:150417727:T:G | donor_loss | 1.0000 |
| 1:150440914:T:TA | acceptor_gain | 1.0000 |
| 1:150440919:TCAG:T | acceptor_loss | 1.0000 |
| 1:150440920:CAGG:C | acceptor_loss | 1.0000 |
| 1:150440921:A:AG | acceptor_gain | 1.0000 |
| 1:150440921:AG:A | acceptor_gain | 1.0000 |
| 1:150440921:AGG:A | acceptor_gain | 1.0000 |
| 1:150440922:G:GC | acceptor_gain | 1.0000 |
| 1:150440922:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
9481 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:150364832:T:C | S40P | 1.000 |
| 1:150364836:T:A | I41N | 1.000 |
| 1:150364848:C:G | S45W | 1.000 |
| 1:150364853:T:A | W47R | 1.000 |
| 1:150364853:T:C | W47R | 1.000 |
| 1:150364856:T:C | C48R | 1.000 |
| 1:150364858:T:G | C48W | 1.000 |
| 1:150364898:T:A | W62R | 1.000 |
| 1:150364898:T:C | W62R | 1.000 |
| 1:150417620:T:C | L77P | 1.000 |
| 1:150417625:T:G | Y79D | 1.000 |
| 1:150417629:T:A | L80H | 1.000 |
| 1:150417629:T:C | L80P | 1.000 |
| 1:150417632:C:A | A81D | 1.000 |
| 1:150417636:T:A | N82K | 1.000 |
| 1:150417636:T:G | N82K | 1.000 |
| 1:150417637:G:C | D83H | 1.000 |
| 1:150417637:G:T | D83Y | 1.000 |
| 1:150417638:A:C | D83A | 1.000 |
| 1:150417638:A:G | D83G | 1.000 |
| 1:150417638:A:T | D83V | 1.000 |
| 1:150417641:T:A | V84D | 1.000 |
| 1:150417644:T:A | I85K | 1.000 |
| 1:150417644:T:G | I85R | 1.000 |
| 1:150417647:A:C | Q86P | 1.000 |
| 1:150417648:G:C | Q86H | 1.000 |
| 1:150417648:G:T | Q86H | 1.000 |
| 1:150417651:C:A | N87K | 1.000 |
| 1:150417651:C:G | N87K | 1.000 |
| 1:150417652:T:C | C88R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000046427 (1:150453652 A>T), RS1000064607 (1:150417925 T>C), RS1000128515 (1:150411175 A>G), RS1000220430 (1:150389819 A>G), RS1000235766 (1:150371858 G>C,T), RS1000246963 (1:150424639 T>C), RS1000298767 (1:150447077 C>G,T), RS1000421014 (1:150440344 A>C,G), RS1000426630 (1:150461070 A>G), RS1000461373 (1:150377627 A>G,T), RS1000541989 (1:150394117 C>G), RS1000626312 (1:150411338 G>A,T), RS1000665205 (1:150429079 A>G), RS1000671095 (1:150388401 C>A,T), RS1000797660 (1:150382415 G>T)
Disease associations
OMIM: gene MIM:614695 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004946_24 | Schizophrenia | 5.000000e-09 |
| GCST007255_1 | Broad depression or bipolar disorder | 6.000000e-08 |
| GCST008524_9 | Bitter non-alcoholic beverage consumption | 1.000000e-07 |
| GCST010002_366 | Refractive error | 3.000000e-15 |
| GCST010696_11 | Cortical thickness (min-P) | 2.000000e-23 |
| GCST010697_17 | Cortical surface area (min-P) | 9.000000e-09 |
| GCST010698_23 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_48 | Brain morphology (min-P) | 3.000000e-08 |
| GCST010700_28 | Cortical thickness (MOSTest) | 8.000000e-38 |
| GCST010701_113 | Cortical surface area (MOSTest) | 9.000000e-12 |
| GCST010702_126 | Subcortical volume (MOSTest) | 4.000000e-09 |
| GCST010703_244 | Brain morphology (MOSTest) | 9.000000e-12 |
| GCST011124_1 | Caffeine consumption from tea | 6.000000e-10 |
| GCST012497_1 | Lung function (FEV1) | 5.000000e-06 |
| GCST90000582_6 | Spontaneous coronary artery dissection | 5.000000e-12 |
| GCST90002398_492 | Neutrophil count | 3.000000e-13 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010093 | bitter non-alcoholic beverage consumption measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0010091 | tea consumption measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725129 (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
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.29 | IC50 | 5110 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 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 | 2178738: Inhibition of RPRD2 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 5.1100 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 5 |
| trichostatin A | decreases expression, affects expression, affects cotreatment | 3 |
| sodium arsenite | affects cotreatment, increases expression, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | increases abundance, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| nobiletin | decreases expression, decreases reaction | 1 |
| sodium arsenate | decreases expression, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697468 | Binding | Inhibition of RPRD2 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.