CTDSPL
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Also known as HYA22SCP3PSR1RBSP3
Summary
CTDSPL (CTD small phosphatase like, HGNC:16890) is a protein-coding gene on chromosome 3p22.2, encoding CTD small phosphatase-like protein (O15194). Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells.
Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma.
Source: NCBI Gene 10217 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 36 total — 1 pathogenic
- MANE Select transcript:
NM_001008392
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16890 |
| Approved symbol | CTDSPL |
| Name | CTD small phosphatase like |
| Location | 3p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HYA22, SCP3, PSR1, RBSP3 |
| Ensembl gene | ENSG00000144677 |
| Ensembl biotype | protein_coding |
| OMIM | 608592 |
| Entrez | 10217 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000273179, ENST00000310189, ENST00000416688, ENST00000435525, ENST00000436654, ENST00000443503, ENST00000447745, ENST00000486978, ENST00000885349, ENST00000948927
RefSeq mRNA: 2 — MANE Select: NM_001008392
NM_001008392, NM_005808
CCDS: CCDS33734, CCDS33735
Canonical transcript exons
ENST00000273179 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001498522 | 37980742 | 37984469 |
| ENSE00001908648 | 37861880 | 37862278 |
| ENSE00003462368 | 37971407 | 37971499 |
| ENSE00003513587 | 37967826 | 37967882 |
| ENSE00003551120 | 37957111 | 37957143 |
| ENSE00003608535 | 37947057 | 37947211 |
| ENSE00003691831 | 37975709 | 37975894 |
| ENSE00003692415 | 37964571 | 37964672 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 97.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6867 / max 148.7481, expressed in 1661 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36075 | 6.9984 | 1609 |
| 36077 | 2.7934 | 1244 |
| 36076 | 0.7378 | 481 |
| 36074 | 0.4663 | 239 |
| 36072 | 0.3680 | 171 |
| 36073 | 0.1445 | 67 |
| 36078 | 0.1138 | 48 |
| 36080 | 0.0645 | 15 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephric glomerulus | UBERON:0004736 | 97.80 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.70 | gold quality |
| nipple | UBERON:0002030 | 97.02 | gold quality |
| renal medulla | UBERON:0000362 | 96.81 | gold quality |
| parotid gland | UBERON:0001831 | 96.60 | gold quality |
| tibia | UBERON:0000979 | 95.84 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.56 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.46 | gold quality |
| secondary oocyte | CL:0000655 | 95.44 | gold quality |
| pylorus | UBERON:0001166 | 95.18 | gold quality |
| upper leg skin | UBERON:0004262 | 95.01 | gold quality |
| upper arm skin | UBERON:0004263 | 94.22 | gold quality |
| hair follicle | UBERON:0002073 | 94.14 | gold quality |
| urethra | UBERON:0000057 | 93.94 | gold quality |
| oocyte | CL:0000023 | 93.92 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.79 | gold quality |
| saphenous vein | UBERON:0007318 | 93.76 | gold quality |
| metanephros | UBERON:0000081 | 93.62 | gold quality |
| visceral pleura | UBERON:0002401 | 93.49 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.23 | gold quality |
| kidney | UBERON:0002113 | 93.17 | gold quality |
| right coronary artery | UBERON:0001625 | 93.03 | gold quality |
| trachea | UBERON:0003126 | 93.03 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.92 | gold quality |
| penis | UBERON:0000989 | 92.79 | gold quality |
| sural nerve | UBERON:0015488 | 92.74 | gold quality |
| gall bladder | UBERON:0002110 | 92.73 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.43 | gold quality |
| skin of hip | UBERON:0001554 | 92.09 | gold quality |
| nephron tubule | UBERON:0001231 | 92.03 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 38.81 |
| E-ANND-3 | yes | 11.23 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
117 targeting CTDSPL, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
Literature-anchored findings (GeneRIF, showing 13)
- analysis of RBSP3/HYA22located in the AP20 region, and evidence for tumor suppressor function (PMID:15051889)
- SCP3 acts as a phosphatase for regulatory phosphorylations in the linker regions of Smad1 and Smad2. (PMID:17085434)
- Frequent alterations of RBSP3 at chromosomal 3p22.3 region in early and late-onset breast carcinoma are reported with reference to clinical and prognostic significance. (PMID:19016758)
- Down-regulation of RBSP3/CTDSPL, NPRL2/G21, RASSF1A, ITGA9, HYAL1 and HYAL2 genes in non-small cell lung cancer (PMID:19140316)
- This is the first report of high frequencies of somatic mutations in RASSF1 and RBSP3 in different cancers suggesting it may underlay the mutator phenotype of cancer. (PMID:19478941)
- In cervical intraepithelial neoplasms and uterine cervical carinoma, RBSP3 is oftne deletd, compared with other genes. (PMID:19885927)
- tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A are downregulated in primary non-small cell lung cancer (PMID:20193080)
- identified RBSP3, a phosphatase-like tumor suppressor, as a bona fide target of miR-100 and validated that RBSP3 was involved in cell differentiation and survival in acute myeloid leukemia (PMID:21643017)
- CTDSPL and Rb directly interact and can be involved in the common mechanism of cell cycle regulation. (PMID:27414789)
- we have presented herein the novel finding that miR-181b contributes to cell cycle progression through depressing the expression of CTDSPL, which in turn activates the downstream effector E2F1 and promotes S-phase entry. (PMID:29382357)
- our data also suggests the importance ofLIMD1 and CDC25A in conjunction with HPV for use as diagnostic and prognostic markers of HNSCC, whereas RBSP3 as a prognostic marker only. (PMID:29672635)
- Tumor suppressor properties of the small C-terminal domain phosphatases in non-small cell lung cancer. (PMID:31774910)
- Hsa-miR-503-5p regulates CTDSPL to accelerate cisplatin resistance and angiogenesis of lung adenocarcinoma cells. (PMID:37341065)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ctdsplb | ENSDARG00000062116 |
| danio_rerio | ctdspla | ENSDARG00000071673 |
| mus_musculus | Ctdspl | ENSMUSG00000047409 |
| rattus_norvegicus | Ctdspl | ENSRNOG00000046257 |
| drosophila_melanogaster | hzg | FBGN0036556 |
| caenorhabditis_elegans | scpl-1 | WBGENE00007054 |
Paralogs (5): TIMM50 (ENSG00000105197), CTDSPL2 (ENSG00000137770), CTDSP1 (ENSG00000144579), CTDSP2 (ENSG00000175215), CTDNEP1 (ENSG00000175826)
Protein
Protein identifiers
CTD small phosphatase-like protein — O15194 (reviewed: O15194)
Alternative names: Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3, NIF-like protein, Nuclear LIM interactor-interacting factor 1, Protein YA22, RBSP3, Small C-terminal domain phosphatase 3
All UniProt accessions (5): O15194, F8WED2, H7C2B9, H7C2S4, H7C353
UniProt curated annotations — full annotation on UniProt →
Function. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. Preferentially catalyzes the dephosphorylation of ‘Ser-5’ within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation.
Subunit / interactions. Interacts with REST. Monomer.
Subcellular location. Nucleus.
Tissue specificity. Expression is restricted to non-neuronal tissues.
Cofactor. Binds 1 Mg(2+) ion per monomer.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15194-1 | 1, HYA22B | yes |
| O15194-2 | 2, HYA22A |
RefSeq proteins (2): NP_001008393, NP_005799 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004274 | FCP1_dom | Domain |
| IPR011948 | Dullard_phosphatase | Domain |
| IPR023214 | HAD_sf | Homologous_superfamily |
| IPR036412 | HAD-like_sf | Homologous_superfamily |
| IPR040078 | RNA_Pol_CTD_Phosphatase | Family |
| IPR050365 | TIM50 | Family |
Pfam: PF03031
Catalyzed reactions (Rhea), 2 shown:
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (36 total): strand 12, helix 9, sequence variant 3, binding site 3, active site 2, site 2, chain 1, domain 1, splice variant 1, turn 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2HHL | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15194-F1 | 78.64 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 112 (4-aspartylphosphate intermediate); 114 (proton donor); 168 (transition state stabilizer); 206 (transition state stabilizer)
Ligand- & substrate-binding residues (3): 112; 114; 223
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 210 (showing top):
GCACCTT_MIR18A_MIR18B, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, AAGCAAT_MIR137, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MODULE_493, BOYLAN_MULTIPLE_MYELOMA_D_DN, GTGCCTT_MIR506, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, BOYLAN_MULTIPLE_MYELOMA_D_CLUSTER_DN, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, BLALOCK_ALZHEIMERS_DISEASE_UP, GTGTTGA_MIR505
GO Biological Process (2): negative regulation of G1/S transition of mitotic cell cycle (GO:2000134), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (7): RNA polymerase II CTD heptapeptide repeat phosphatase activity (GO:0008420), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), protein serine/threonine phosphatase activity (GO:0004722), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatase activity (GO:0016791)
GO Cellular Component (2): nucleus (GO:0005634), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G1/S transition of mitotic cell cycle | 1 |
| negative regulation of mitotic cell cycle phase transition | 1 |
| negative regulation of cell cycle G1/S phase transition | 1 |
| regulation of G1/S transition of mitotic cell cycle | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| protein serine/threonine phosphatase activity | 1 |
| RNA polymerase II CTD heptapeptide repeat modifying activity | 1 |
| cation binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| phosphoprotein phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| phosphoric ester hydrolase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1209 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CTDSPL | CTDP1 | Q9Y5B0 | 750 |
| CTDSPL | REST | Q13127 | 732 |
| CTDSPL | GTF2F1 | P35269 | 583 |
| CTDSPL | WDR35 | Q9P2L0 | 507 |
| CTDSPL | ITGA9 | Q13797 | 493 |
| CTDSPL | ELMO3 | Q96BJ8 | 479 |
| CTDSPL | IFT122 | Q9HBG6 | 479 |
| CTDSPL | KDM5C | P41229 | 451 |
| CTDSPL | ELMO2 | Q96JJ3 | 448 |
| CTDSPL | LRRC3B | Q96PB8 | 448 |
| CTDSPL | GULP1 | Q9UBP9 | 448 |
| CTDSPL | NIFK | Q9BYG3 | 447 |
| CTDSPL | KCNN4 | O15554 | 439 |
| CTDSPL | VILL | O15195 | 435 |
| CTDSPL | LIMD1 | Q9UGP4 | 432 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDCA3 | CTDSPL | psi-mi:“MI:0914”(association) | 0.670 |
| CTDSP1 | CTDSPL | psi-mi:“MI:0914”(association) | 0.640 |
| CTDSP1 | CTDSP2 | psi-mi:“MI:0914”(association) | 0.530 |
| SMAD1 | CTDSPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| SMAD2 | CTDSPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| CTDSPL | FGFR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MBP | CTDSPL | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSPL | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA8 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSP1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSP2 | CTDSPL | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSPL | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (102): CTDSPL (Affinity Capture-MS), CTDSPL (Affinity Capture-MS), CDCA3 (Affinity Capture-MS), TBC1D4 (Affinity Capture-MS), ARVCF (Proximity Label-MS), CADM1 (Proximity Label-MS), RFTN1 (Proximity Label-MS), PACS1 (Proximity Label-MS), DAB2IP (Proximity Label-MS), ARHGAP39 (Proximity Label-MS), CD44 (Proximity Label-MS), ABCC1 (Proximity Label-MS), ATP2B4 (Proximity Label-MS), NOTCH1 (Proximity Label-MS), PVRL2 (Proximity Label-MS)
ESM2 similar proteins: A5A3E0, C4B7M5, C4B7M6, E1B328, F4JCB2, F4K487, O15194, O80443, P0C6E7, P0CAP5, P0CG38, P0CG39, P0DKG6, P0DKH5, P14721, Q00IB6, Q5RM09, Q683D5, Q69TF4, Q6L3Y2, Q6S8J3, Q70SU8, Q84JE8, Q84WJ0, Q84WP3, Q8GWJ4, Q8GYE8, Q8GZ84, Q8LRK8, Q8RXK2, Q944B6, Q94A51, Q9C5P0, Q9C5Q9, Q9C7F1, Q9FHE8, Q9FJX8, Q9FJX9, Q9FKF0, Q9FV02
Diamond homologs: A4QNX6, M9PFN0, O13636, O14595, O15194, O59718, O95476, P0CN66, P0CN67, P38757, P58465, P58466, Q02776, Q05D32, Q07800, Q07949, Q08BB5, Q09695, Q1RMV9, Q20432, Q28HW9, Q29I63, Q3B7T6, Q3KQB6, Q3TP92, Q3ZCQ8, Q4I099, Q4PEW9, Q4WI16, Q54GB2, Q59W44, Q5B4P0, Q5F3Z7, Q5RAJ8, Q5S7T7, Q5U395, Q5U3T3, Q5XIK8, Q61C05, Q66KM5
SIGNOR signaling
13 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CTDSPL | “up-regulates activity” | RB1 | dephosphorylation |
| CTDSPL | “up-regulates activity” | SMAD3 | dephosphorylation |
| CTDSPL | “down-regulates activity” | SMAD2 | dephosphorylation |
| CTDSPL | “down-regulates activity” | SMAD1 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 665052 | NC_000003.12:g.(?37452365)(38950372_?)del | Pathogenic |
SpliceAI
2432 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:37862278:GGTG:G | donor_loss | 1.0000 |
| 3:37862280:T:G | donor_loss | 1.0000 |
| 3:37947055:A:AG | acceptor_gain | 1.0000 |
| 3:37947056:G:GC | acceptor_gain | 1.0000 |
| 3:37947209:AAG:A | donor_loss | 1.0000 |
| 3:37947211:GGTC:G | donor_loss | 1.0000 |
| 3:37947212:G:GC | donor_loss | 1.0000 |
| 3:37947213:T:G | donor_loss | 1.0000 |
| 3:37964668:TTAAG:T | donor_loss | 1.0000 |
| 3:37964669:TAAG:T | donor_loss | 1.0000 |
| 3:37964670:AAG:A | donor_loss | 1.0000 |
| 3:37964671:AG:A | donor_loss | 1.0000 |
| 3:37964672:GG:G | donor_loss | 1.0000 |
| 3:37964673:GT:G | donor_loss | 1.0000 |
| 3:37964674:T:A | donor_loss | 1.0000 |
| 3:37967824:A:AG | acceptor_gain | 1.0000 |
| 3:37967825:G:GG | acceptor_gain | 1.0000 |
| 3:37967878:ATCAG:A | donor_loss | 1.0000 |
| 3:37967879:TCAGG:T | donor_loss | 1.0000 |
| 3:37967880:CAG:C | donor_loss | 1.0000 |
| 3:37967881:AGGT:A | donor_loss | 1.0000 |
| 3:37967882:GG:G | donor_loss | 1.0000 |
| 3:37967884:T:A | donor_loss | 1.0000 |
| 3:37971402:TGCA:T | acceptor_loss | 1.0000 |
| 3:37971403:GCA:G | acceptor_loss | 1.0000 |
| 3:37971404:CA:C | acceptor_loss | 1.0000 |
| 3:37971405:A:AG | acceptor_gain | 1.0000 |
| 3:37971405:AGGT:A | acceptor_gain | 1.0000 |
| 3:37971406:G:GG | acceptor_gain | 1.0000 |
| 3:37971406:GGT:G | acceptor_gain | 1.0000 |
AlphaMissense
1834 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:37964632:T:A | V110D | 1.000 |
| 3:37964635:T:A | I111N | 1.000 |
| 3:37964637:G:C | D112H | 1.000 |
| 3:37964638:A:C | D112A | 1.000 |
| 3:37964638:A:G | D112G | 1.000 |
| 3:37964638:A:T | D112V | 1.000 |
| 3:37964639:T:A | D112E | 1.000 |
| 3:37964639:T:G | D112E | 1.000 |
| 3:37964641:T:C | L113S | 1.000 |
| 3:37964643:G:A | D114N | 1.000 |
| 3:37964643:G:C | D114H | 1.000 |
| 3:37964643:G:T | D114Y | 1.000 |
| 3:37964644:A:C | D114A | 1.000 |
| 3:37964644:A:G | D114G | 1.000 |
| 3:37964644:A:T | D114V | 1.000 |
| 3:37964645:T:A | D114E | 1.000 |
| 3:37964645:T:G | D114E | 1.000 |
| 3:37964647:A:C | E115A | 1.000 |
| 3:37964647:A:T | E115V | 1.000 |
| 3:37964648:A:C | E115D | 1.000 |
| 3:37964648:A:T | E115D | 1.000 |
| 3:37964649:A:C | T116P | 1.000 |
| 3:37964650:C:G | T116R | 1.000 |
| 3:37964650:C:T | T116I | 1.000 |
| 3:37964653:T:C | L117S | 1.000 |
| 3:37964653:T:G | L117W | 1.000 |
| 3:37964656:T:A | V118E | 1.000 |
| 3:37964658:C:G | H119D | 1.000 |
| 3:37964660:C:A | H119Q | 1.000 |
| 3:37964660:C:G | H119Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006521 (3:37962850 T>G), RS1000035363 (3:37970346 T>G), RS1000046690 (3:37877377 T>C), RS1000122915 (3:37915125 A>G), RS1000132073 (3:37949257 A>C), RS1000151499 (3:37869266 ATTTC>A), RS1000155460 (3:37914696 C>G), RS1000155905 (3:37913696 A>C), RS1000156432 (3:37883642 A>C,G), RS1000206732 (3:37984483 T>C), RS1000246504 (3:37934544 G>A,T), RS1000281302 (3:37977101 A>G), RS1000336170 (3:37882056 C>A,G), RS1000347096 (3:37863374 G>C), RS1000380792 (3:37920436 C>T)
Disease associations
OMIM: gene MIM:608592 | disease phenotypes: MIM:189800, MIM:601144
GenCC curated gene-disease
Mondo (2): preeclampsia (MONDO:0005081), Brugada syndrome (MONDO:0015263)
Orphanet (2): Preeclampsia (Orphanet:275555), Brugada syndrome (Orphanet:130)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000095_5 | Prostate cancer | 2.000000e-06 |
| GCST90002383_363 | Hematocrit | 7.000000e-24 |
| GCST90002384_203 | Hemoglobin | 3.000000e-22 |
| GCST90002388_191 | Lymphocyte count | 4.000000e-11 |
| GCST90002393_399 | Monocyte count | 1.000000e-10 |
| GCST90002403_139 | Red blood cell count | 1.000000e-20 |
| GCST90020028_794 | Hip circumference adjusted for BMI | 3.000000e-08 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0005091 | monocyte count |
| EFO:0004305 | erythrocyte count |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
| D011225 | Pre-Eclampsia | C12.050.703.395.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 5 |
| sodium arsenite | affects methylation, decreases expression, affects cotreatment, increases abundance | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| bisphenol A | affects expression, decreases methylation | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| triacsin C | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| paricalcitol | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1PJ | Abcam HeLa CTDSPL KO | Cancer cell line | Female |
| CVCL_SK04 | HAP1 CTDSPL (-) 1 | Cancer cell line | Male |
| CVCL_SK05 | HAP1 CTDSPL (-) 2 | Cancer cell line | Male |
| CVCL_SK06 | HAP1 CTDSPL (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | PHASE4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | PHASE4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | PHASE4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | PHASE4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | PHASE4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | PHASE4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | PHASE4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | PHASE4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | PHASE4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | PHASE4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | PHASE4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | PHASE4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | PHASE4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | PHASE4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | PHASE4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | PHASE4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | PHASE4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | PHASE4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | PHASE4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | PHASE4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | PHASE4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | PHASE4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | PHASE4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | PHASE4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | PHASE4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | PHASE4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | PHASE4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | PHASE4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | PHASE4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | PHASE4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | PHASE4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | PHASE4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | PHASE4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | PHASE4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | PHASE4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | PHASE4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | PHASE4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | PHASE4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | PHASE4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | PHASE4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Brugada syndrome, preeclampsia