RPRD1A
geneOn this page
Also known as P15RSFLJ10656HsT3101
Summary
RPRD1A (regulation of nuclear pre-mRNA domain containing 1A, HGNC:25560) is a protein-coding gene on chromosome 18q12.2, encoding Regulation of nuclear pre-mRNA domain-containing protein 1A (Q96P16). Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2.
This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16.
Source: NCBI Gene 55197 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_018170
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25560 |
| Approved symbol | RPRD1A |
| Name | regulation of nuclear pre-mRNA domain containing 1A |
| Location | 18q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P15RS, FLJ10656, HsT3101 |
| Ensembl gene | ENSG00000141425 |
| Ensembl biotype | protein_coding |
| OMIM | 610347 |
| Entrez | 55197 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 non_stop_decay, 1 retained_intron
ENST00000357384, ENST00000399022, ENST00000585879, ENST00000585953, ENST00000587563, ENST00000588459, ENST00000588737, ENST00000589050, ENST00000590898, ENST00000591994, ENST00000592674, ENST00000896647, ENST00000916733, ENST00000966876
RefSeq mRNA: 4 — MANE Select: NM_018170
NM_001303411, NM_001303412, NM_001303413, NM_018170
CCDS: CCDS11917, CCDS77178
Canonical transcript exons
ENST00000399022 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000948469 | 36033708 | 36033837 |
| ENSE00000948470 | 36030991 | 36031097 |
| ENSE00000948471 | 36030808 | 36030905 |
| ENSE00000948472 | 36027184 | 36027310 |
| ENSE00000948473 | 36026900 | 36027075 |
| ENSE00001536029 | 35989824 | 35993300 |
| ENSE00003841425 | 36067254 | 36067559 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 98.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.0382 / max 703.3271, expressed in 1816 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171671 | 39.5505 | 1816 |
| 171670 | 1.4878 | 931 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 98.39 | gold quality |
| endothelial cell | CL:0000115 | 98.24 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.35 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.58 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.36 | gold quality |
| secondary oocyte | CL:0000655 | 96.07 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.93 | gold quality |
| ventricular zone | UBERON:0003053 | 95.50 | gold quality |
| corpus callosum | UBERON:0002336 | 95.33 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.25 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.23 | gold quality |
| occipital lobe | UBERON:0002021 | 95.22 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.17 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.12 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.05 | gold quality |
| cortical plate | UBERON:0005343 | 94.96 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.93 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.89 | gold quality |
| parietal lobe | UBERON:0001872 | 94.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.86 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.71 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.61 | gold quality |
| temporal lobe | UBERON:0001871 | 94.48 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.38 | gold quality |
| neocortex | UBERON:0001950 | 94.32 | gold quality |
| frontal cortex | UBERON:0001870 | 94.26 | gold quality |
| cerebral cortex | UBERON:0000956 | 94.23 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.19 | gold quality |
| visceral pleura | UBERON:0002401 | 94.11 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-38 | yes | 801.75 |
| E-ANND-3 | yes | 8.17 |
| E-MTAB-7303 | no | 410.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
176 targeting RPRD1A, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Literature-anchored findings (GeneRIF, showing 7)
- molecular cloning and characterization of P15RS, a novel P15(INK4b) related gene involved in G1/S progression (PMID:12470661)
- p15RS inhibits Wnt signaling by interrupting beta-catenin.TCF4 complex formation and that Wnt signaling initiates downstream gene expression by removing p15RS from promoters. (PMID:20739273)
- The p15RS expression specifically downregulates the expression of cathepsin B and MMP-9 at RNA levels, which are known to promote cell invasion through degrading extracellular matrix proteins. (PMID:22580456)
- RPRD1A and RPRD1B associate directly with RPAP2 phosphatase and coordinate the dephosphorylation of RNAPII phospho-S5 by RPAP2. (PMID:24997600)
- Data suggest that p15RS (p15INK4b-related sequence) acts as an intrinsic transcriptional repressor for Wnt/beta-catenin-mediated gene transcription through recruiting HDAC2 histone deacetylase. (PMID:25697359)
- The Wnt/beta-catenin signaling antagonist RPRD1A was downregulated and its upstream regulator miR-454-3p was amplified and overexpressed in metastatic breast cancer, and both were correlated with overall and relapse-free survival in breast cancer patients. (PMID:30809286)
- RPRD1A stabilizes NRF2 and aggravates HCC progression through competing with p62 for TRIM21 binding. (PMID:34921137)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rprd1a | ENSDARG00000104861 |
| mus_musculus | Rprd1a | ENSMUSG00000040446 |
| rattus_norvegicus | Rprd1a | ENSRNOG00000016036 |
| drosophila_melanogaster | CG9018 | FBGN0035318 |
| caenorhabditis_elegans | WBGENE00015347 |
Paralogs (2): RPRD1B (ENSG00000101413), RPRD2 (ENSG00000163125)
Protein
Protein identifiers
Regulation of nuclear pre-mRNA domain-containing protein 1A — Q96P16 (reviewed: Q96P16)
Alternative names: Cyclin-dependent kinase inhibitor 2B-related protein, p15INK4B-related protein
All UniProt accessions (5): A0A0C4DGQ6, Q96P16, K7EP82, K7EQR8, K7ER50
UniProt curated annotations — full annotation on UniProt →
Function. Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle.
Subunit / interactions. May form a heterodimer with RPRD1B. Associates with the RNA polymerase II subunit POLR2A (via CTD phosphorylated at ‘Ser-2’ and ‘Ser-7’ of the heptad repeats).
Subcellular location. Nucleus.
Induction. Up-regulated in cells overexpressing CDKN2B.
Similarity. Belongs to the UPF0400 (RTT103) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96P16-1 | 1 | yes |
| Q96P16-3 | 2 |
RefSeq proteins (4): NP_001290340, NP_001290341, NP_001290342, NP_060640* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006569 | CID_dom | Domain |
| IPR008942 | ENTH_VHS | Homologous_superfamily |
| IPR032337 | RPRD1A/B_C | Domain |
| IPR047884 | RPRD1A_CID | Domain |
Pfam: PF04818, PF16566
UniProt features (25 total): helix 9, modified residue 4, mutagenesis site 3, sequence conflict 2, initiator methionine 1, chain 1, domain 1, turn 1, coiled-coil region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4JXT | X-RAY DIFFRACTION | 1.9 |
| 4NAC | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96P16-F1 | 83.65 | 0.56 |
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 (4): 2, 153, 156, 285
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 65 | partial loss of binding to polr2a ctd in vitro. |
| 106 | partial loss of binding to polr2a ctd phosphorylated at ‘ser-2’ in the heptad repeats in vitro. |
| 114 | partial loss of binding to polr2a ctd in vitro. |
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: 211 (showing top):
ATF_B, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, CREBP1_Q2, GGGTGGRR_PAX4_03, YY1_Q6, CREB_Q4, chr18q12, GOBP_MRNA_3_END_PROCESSING, E4F1_Q6, ATF3_Q6, CREB_Q2_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, ATF_01, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, CREBP1CJUN_01
GO Biological Process (3): RNA polymerase II promoter clearance (GO:0001111), mRNA 3’-end processing (GO:0031124), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): RNA polymerase II complex binding (GO:0000993), identical protein binding (GO:0042802), RNA polymerase II C-terminal domain binding (GO:0099122), protein binding (GO:0005515), RNA polymerase II CTD heptapeptide repeat phosphatase activity (GO:0008420)
GO Cellular Component (3): nucleus (GO:0005634), 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 |
|---|---|
| transcription by RNA polymerase II | 2 |
| promoter clearance during DNA-templated transcription | 1 |
| mRNA processing | 1 |
| RNA 3’-end processing | 1 |
| regulation of DNA-templated transcription | 1 |
| RNA polymerase core enzyme binding | 1 |
| protein binding | 1 |
| RNA polymerase II complex binding | 1 |
| binding | 1 |
| protein serine/threonine phosphatase activity | 1 |
| RNA polymerase II CTD heptapeptide repeat modifying activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| protein-DNA complex | 1 |
Protein interactions and networks
STRING
1392 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPRD1A | RPAP2 | Q8IXW5 | 897 |
| RPRD1A | RMP24 | Q32NC0 | 662 |
| RPRD1A | CDKN2B | P42772 | 642 |
| RPRD1A | POLR2A | P24928 | 592 |
| RPRD1A | PCF11 | O94913 | 582 |
| RPRD1A | RECQL5 | O94762 | 571 |
| RPRD1A | CCNE1 | P24864 | 549 |
| RPRD1A | CDKN3 | Q16667 | 549 |
| RPRD1A | SCAF8 | Q9UPN6 | 542 |
| RPRD1A | RPAP3 | Q9H6T3 | 495 |
| RPRD1A | GPN1 | Q9HCN4 | 494 |
| RPRD1A | SCAF4 | O95104 | 479 |
| RPRD1A | CCND1 | P24385 | 477 |
| RPRD1A | XRN2 | Q9H0D6 | 477 |
| RPRD1A | JAG2 | Q9Y219 | 466 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPRD1B | POLR2A | psi-mi:“MI:0914”(association) | 0.920 |
| POLR2G | POLR2D | psi-mi:“MI:0914”(association) | 0.840 |
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| RPRD1B | RPRD1A | psi-mi:“MI:0915”(physical association) | 0.820 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| POLR2G | RECQL5 | psi-mi:“MI:0914”(association) | 0.730 |
| RPRD1B | RECQL5 | psi-mi:“MI:0914”(association) | 0.730 |
| 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 |
| POLR2J | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| POLR2A | RPAP2 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2D | RECQL5 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2F | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2L | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2A | RPRD1A | psi-mi:“MI:0915”(physical association) | 0.620 |
| RPRD1A | KPNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA3 | RPRD1A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (211): RPRD1A (Two-hybrid), RPRD1A (Affinity Capture-RNA), RPRD1A (Affinity Capture-RNA), RPRD1A (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), DPH2 (Co-fractionation), DXO (Co-fractionation), MITD1 (Co-fractionation), RPRD1A (Co-fractionation), RPRD1A (Co-fractionation), VPS37B (Co-fractionation)
ESM2 similar proteins: A0JMA8, A4UUI3, A8WLG6, A8WZU5, A8XEZ1, A8XY47, F4ICD9, F4JIN3, G5EDN3, O13745, O43150, O59668, O74737, O74749, O93436, P32744, P34281, P38753, P90740, Q03609, Q07872, Q0P5J9, Q10410, Q17423, Q20977, Q21444, Q23088, Q4VBT2, Q5R8Y3, Q5SPP5, Q5U245, Q61D31, Q61J98, Q61QN4, Q641A2, Q756C5, Q7SIG6, Q7XPJ0, Q8IGJ0, Q8STE5
Diamond homologs: Q0P5J9, Q5R8Y3, Q5ZM30, Q8VDS4, Q96P16, Q9CSU0, Q9NQG5, Q05543, Q5VT52, Q6NXI6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 123 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 | 8 | 72.5× | 2e-12 |
| Signaling by FGFR2 IIIa TM | 9 | 64.4× | 1e-12 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 9 | 53.2× | 2e-12 |
| MicroRNA (miRNA) biogenesis | 9 | 48.9× | 4e-12 |
| Activation of HOX genes during differentiation | 9 | 47.1× | 5e-12 |
| FGFR2 alternative splicing | 9 | 45.3× | 7e-12 |
| RNA Polymerase III Chain Elongation | 6 | 45.3× | 2e-08 |
| Pausing and recovery of Tat-mediated HIV elongation | 10 | 43.9× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transcription by RNA polymerase II | 10 | 6.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1885 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:36026895:CGCA:C | donor_gain | 1.0000 |
| 18:36026896:GCA:G | donor_loss | 1.0000 |
| 18:36026897:CACTT:C | donor_loss | 1.0000 |
| 18:36026898:A:AC | donor_gain | 1.0000 |
| 18:36026898:ACTT:A | donor_gain | 1.0000 |
| 18:36026898:ACTTC:A | donor_gain | 1.0000 |
| 18:36026899:C:CA | donor_gain | 1.0000 |
| 18:36026899:CTT:C | donor_gain | 1.0000 |
| 18:36026899:CTTC:C | donor_gain | 1.0000 |
| 18:36026899:CTTCC:C | donor_gain | 1.0000 |
| 18:36026901:T:TA | donor_gain | 1.0000 |
| 18:36026902:C:A | donor_gain | 1.0000 |
| 18:36026931:T:TA | donor_gain | 1.0000 |
| 18:36027076:C:CC | acceptor_gain | 1.0000 |
| 18:36027076:C:CG | acceptor_loss | 1.0000 |
| 18:36027178:TCTTA:T | donor_loss | 1.0000 |
| 18:36027179:CTTA:C | donor_loss | 1.0000 |
| 18:36027180:TTA:T | donor_loss | 1.0000 |
| 18:36027181:TA:T | donor_loss | 1.0000 |
| 18:36027182:A:AG | donor_loss | 1.0000 |
| 18:36027183:C:CT | donor_loss | 1.0000 |
| 18:36027309:GT:G | acceptor_gain | 1.0000 |
| 18:36027310:TCT:T | acceptor_loss | 1.0000 |
| 18:36030637:C:CT | donor_gain | 1.0000 |
| 18:36030638:T:TT | donor_gain | 1.0000 |
| 18:36030802:TTCTA:T | donor_loss | 1.0000 |
| 18:36030803:TCTA:T | donor_loss | 1.0000 |
| 18:36030804:CTA:C | donor_loss | 1.0000 |
| 18:36030805:TA:T | donor_loss | 1.0000 |
| 18:36030807:C:T | donor_loss | 1.0000 |
AlphaMissense
2039 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:36031005:A:G | L125P | 1.000 |
| 18:36031032:A:T | V116D | 1.000 |
| 18:36031037:C:A | R114S | 1.000 |
| 18:36031037:C:G | R114S | 1.000 |
| 18:36031038:C:A | R114M | 1.000 |
| 18:36031038:C:G | R114T | 1.000 |
| 18:36031046:C:A | W111C | 1.000 |
| 18:36031046:C:G | W111C | 1.000 |
| 18:36031047:C:G | W111S | 1.000 |
| 18:36031048:A:G | W111R | 1.000 |
| 18:36031048:A:T | W111R | 1.000 |
| 18:36031050:A:C | I110S | 1.000 |
| 18:36031050:A:G | I110T | 1.000 |
| 18:36031050:A:T | I110N | 1.000 |
| 18:36031061:T:A | R106S | 1.000 |
| 18:36031061:T:G | R106S | 1.000 |
| 18:36031062:C:G | R106T | 1.000 |
| 18:36033746:A:C | F81L | 1.000 |
| 18:36033746:A:T | F81L | 1.000 |
| 18:36033747:A:G | F81S | 1.000 |
| 18:36033748:A:G | F81L | 1.000 |
| 18:36033758:A:C | F77L | 1.000 |
| 18:36033758:A:T | F77L | 1.000 |
| 18:36033759:A:C | F77C | 1.000 |
| 18:36033759:A:G | F77S | 1.000 |
| 18:36033760:A:G | F77L | 1.000 |
| 18:36033768:C:T | G74E | 1.000 |
| 18:36033769:C:G | G74R | 1.000 |
| 18:36033769:C:T | G74R | 1.000 |
| 18:36033776:C:A | K71N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005328 (18:36042740 A>C), RS1000017776 (18:36059264 A>C,G), RS1000054492 (18:36064508 A>G), RS1000191925 (18:36063317 G>A), RS1000323673 (18:35992964 TAAGTC>T), RS1000334916 (18:36036945 C>T), RS1000365667 (18:36067754 C>A), RS1000379695 (18:36044125 A>G), RS1000426987 (18:35999154 C>T), RS1000451826 (18:36064291 T>A,G), RS1000473815 (18:36023941 T>C), RS1000479200 (18:36025542 C>A,G,T), RS1000491014 (18:36026067 C>A,T), RS1000504190 (18:36003653 T>C), RS1000561443 (18:36017108 G>A)
Disease associations
OMIM: gene MIM:610347 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002269_1 | Drug-induced torsades de pointes | 4.000000e-07 |
| GCST90002390_550 | Mean corpuscular hemoglobin | 1.000000e-11 |
| GCST90002392_29 | Mean corpuscular volume | 1.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment, decreases expression, affects expression | 7 |
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance | 2 |
| sodium arsenite | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| chloropicrin | decreases expression | 1 |
| entinostat | decreases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): torsades de pointes