PDCD11
gene geneOn this page
Also known as KIAA0185ALG-4RRP5NFBP
Summary
PDCD11 (programmed cell death 11, HGNC:13408) is a protein-coding gene on chromosome 10q24.33, encoding Protein RRP5 homolog (Q14690). Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. It is a common-essential gene (DepMap: required in 99.6% of cancer cell lines).
PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).
Source: NCBI Gene 22984 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 301 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014976
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13408 |
| Approved symbol | PDCD11 |
| Name | programmed cell death 11 |
| Location | 10q24.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0185, ALG-4, RRP5, NFBP |
| Ensembl gene | ENSG00000148843 |
| Ensembl biotype | protein_coding |
| OMIM | 612333 |
| Entrez | 22984 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 14 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000369797, ENST00000466959, ENST00000471061, ENST00000478543, ENST00000493610, ENST00000648051, ENST00000649849, ENST00000902786, ENST00000930107, ENST00000930108, ENST00000930109, ENST00000930110, ENST00000930111, ENST00000930112, ENST00000930113, ENST00000930114, ENST00000930115, ENST00000930116, ENST00000930117
RefSeq mRNA: 2 — MANE Select: NM_014976
NM_001411058, NM_014976
CCDS: CCDS31276, CCDS91342
Canonical transcript exons
ENST00000369797 — 36 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000987739 | 103405985 | 103406108 |
| ENSE00000987740 | 103406609 | 103406790 |
| ENSE00000987741 | 103409699 | 103409806 |
| ENSE00000987742 | 103413116 | 103413322 |
| ENSE00000987743 | 103413966 | 103414090 |
| ENSE00000987744 | 103414270 | 103414330 |
| ENSE00000987745 | 103415005 | 103415151 |
| ENSE00000987746 | 103416491 | 103416742 |
| ENSE00000987747 | 103417792 | 103417932 |
| ENSE00000987749 | 103419538 | 103419708 |
| ENSE00001025994 | 103444517 | 103444682 |
| ENSE00001025995 | 103427329 | 103427391 |
| ENSE00001025997 | 103418440 | 103418634 |
| ENSE00001025998 | 103439746 | 103439868 |
| ENSE00001026000 | 103443165 | 103443333 |
| ENSE00001026002 | 103432129 | 103432234 |
| ENSE00001026003 | 103443915 | 103444068 |
| ENSE00001026005 | 103442213 | 103442460 |
| ENSE00001026006 | 103441826 | 103441975 |
| ENSE00001026007 | 103434248 | 103434350 |
| ENSE00001026008 | 103438686 | 103438808 |
| ENSE00001026009 | 103434798 | 103434975 |
| ENSE00001026011 | 103440290 | 103440581 |
| ENSE00001026012 | 103438015 | 103438071 |
| ENSE00001026013 | 103424984 | 103425525 |
| ENSE00001026014 | 103440734 | 103440850 |
| ENSE00001026016 | 103433948 | 103434037 |
| ENSE00001092404 | 103421348 | 103421567 |
| ENSE00001092405 | 103423543 | 103423658 |
| ENSE00001092406 | 103422988 | 103423137 |
| ENSE00001450934 | 103445378 | 103446294 |
| ENSE00003492214 | 103405022 | 103405183 |
| ENSE00003505969 | 103398416 | 103398528 |
| ENSE00003649254 | 103403118 | 103403285 |
| ENSE00003683824 | 103400397 | 103400528 |
| ENSE00003831406 | 103396626 | 103396730 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 90.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.6963 / max 270.0191, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106809 | 30.8141 | 1813 |
| 106810 | 0.8823 | 502 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.92 | gold quality |
| sural nerve | UBERON:0015488 | 89.03 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.95 | gold quality |
| left testis | UBERON:0004533 | 88.80 | gold quality |
| right testis | UBERON:0004534 | 88.60 | gold quality |
| testis | UBERON:0000473 | 87.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.80 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 87.75 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 87.61 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 86.21 | gold quality |
| granulocyte | CL:0000094 | 86.17 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.91 | gold quality |
| right uterine tube | UBERON:0001302 | 85.83 | gold quality |
| muscle of leg | UBERON:0001383 | 85.52 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.49 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.44 | gold quality |
| body of pancreas | UBERON:0001150 | 85.27 | gold quality |
| tibialis anterior | UBERON:0001385 | 85.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.17 | gold quality |
| skin of leg | UBERON:0001511 | 85.10 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.98 | gold quality |
| cortical plate | UBERON:0005343 | 84.93 | gold quality |
| right ovary | UBERON:0002118 | 84.83 | gold quality |
| embryo | UBERON:0000922 | 84.64 | gold quality |
| pancreas | UBERON:0001264 | 84.42 | gold quality |
| ventricular zone | UBERON:0003053 | 84.25 | gold quality |
| left ovary | UBERON:0002119 | 84.11 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.08 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.40 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| FASLG | Unknown |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- Evidence is presented for involvement of PDCD11 in processing of ribosomal RNA. (PMID:17654514)
- The 50S U3 snoRNP is an small subunit assembly intermediate that is likely recruited to the pre-rRNA through the RNA-binding proteins nucleolin and RRP5.[RRP5, DBP4] (PMID:19332556)
- data provide no evidence for the contribution of rare PDCD11 variations to the risk of schizophrenia in the Japanese population. (PMID:28657695)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pdcd11 | ENSDARG00000052480 |
| mus_musculus | Pdcd11 | ENSMUSG00000025047 |
| rattus_norvegicus | Pdcd11 | ENSRNOG00000020304 |
| drosophila_melanogaster | Rrp5 | FBGN0039182 |
| caenorhabditis_elegans | WBGENE00002850 |
Protein
Protein identifiers
Protein RRP5 homolog — Q14690 (reviewed: Q14690)
Alternative names: NF-kappa-B-binding protein, Programmed cell death protein 11
All UniProt accessions (3): Q14690, A0A3B3IUD7, S4R3Q4
UniProt curated annotations — full annotation on UniProt →
Function. Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA. Involved in the biogenesis of rRNA.
Subunit / interactions. Interacts with NF-kappa-B p50/NFKB1 and NF-kappa-B p65/RELA.
Subcellular location. Nucleus. Nucleolus.
RefSeq proteins (2): NP_001397987, NP_055791* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003029 | S1_domain | Domain |
| IPR003107 | HAT | Repeat |
| IPR008847 | Suf | Domain |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR045209 | Rrp5 | Family |
| IPR048058 | Rrp5_S1_rpt_hs11_sc8 | Domain |
| IPR048059 | Rrp5_S1_rpt_hs1_sc1 | Domain |
| IPR057302 | Rrp5_S1 | Domain |
Pfam: PF00575, PF05843, PF23459
UniProt features (52 total): domain 12, modified residue 8, sequence variant 7, strand 6, repeat 4, region of interest 4, compositionally biased region 4, cross-link 2, initiator methionine 1, chain 1, sequence conflict 1, turn 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WI5 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14690-F1 | 74.40 | 0.18 |
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 (10): 2, 7, 438, 1360, 1362, 1476, 1493, 1498, 1030, 1416
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 89 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, CAGCAGG_MIR370, MARZEC_IL2_SIGNALING_UP, LAU_APOPTOSIS_CDKN2A_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX, COLDREN_GEFITINIB_RESISTANCE_UP, GOMF_NF_KAPPAB_BINDING, GOMF_TRANSCRIPTION_FACTOR_BINDING, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN
GO Biological Process (2): rRNA processing (GO:0006364), RNA processing (GO:0006396)
GO Molecular Function (4): RNA binding (GO:0003723), NF-kappaB binding (GO:0051059), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), small-subunit processome (GO:0032040)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA polymerase II-specific DNA-binding transcription factor binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
4015 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDCD11 | CEBPZ | Q03701 | 959 |
| PDCD11 | DDX52 | Q9Y2R4 | 917 |
| PDCD11 | DDX10 | Q13206 | 825 |
| PDCD11 | PWP2 | Q15269 | 819 |
| PDCD11 | UTP20 | O75691 | 815 |
| PDCD11 | HEATR1 | Q9H583 | 814 |
| PDCD11 | BYSL | Q13895 | 812 |
| PDCD11 | NOL6 | Q9H6R4 | 796 |
| PDCD11 | EBNA1BP2 | Q99848 | 789 |
| PDCD11 | RRP7A | Q9Y3A4 | 785 |
| PDCD11 | DHX15 | O43143 | 755 |
| PDCD11 | KRR1 | Q13601 | 737 |
| PDCD11 | RRP12 | Q5JTH9 | 736 |
| PDCD11 | URB1 | O60287 | 718 |
| PDCD11 | RPF2 | Q9H7B2 | 718 |
| PDCD11 | PAK1IP1 | Q9NWT1 | 718 |
IntAct
201 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZSCAN32 | ZNF24 | psi-mi:“MI:0914”(association) | 0.880 |
| PDIK1L | CTDSPL2 | psi-mi:“MI:0914”(association) | 0.840 |
| SRP68 | SRP72 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| FANCC | FANCA | psi-mi:“MI:0914”(association) | 0.680 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP2B | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (452): PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), SUPT6H (Co-fractionation), PDCD11 (Affinity Capture-RNA), PDCD11 (Affinity Capture-MS), PDCD11 (Proximity Label-MS), PDCD11 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8HX76, A2RV18, A6NAF9, A7MB10, A9CPT4, E2RDV1, E7FDW8, E9PYK3, F1P4W9, F1R237, F4J8K6, O60522, O74835, O75616, P57075, P61407, Q0P4R5, Q0P5H9, Q14690, Q15061, Q3U3W5, Q3U821, Q3V3E1, Q58EK5, Q5BK48, Q5M7P8, Q5R5N8, Q5U2P0, Q6DFC6, Q6GN11, Q6NS46, Q6NU04, Q6ZQL4, Q86WJ1, Q8BGG7, Q8C0S1, Q8K1H1, Q8N0Z6, Q8R3C6, Q8TF42
Diamond homologs: A7MB10, B0R3M0, B4UHG5, B8JFZ1, P46837, P57072, P71353, Q14690, Q45388, Q51062, Q51152, Q57581, Q5UX22, Q6NS46, Q9HRT8, Q9VC94, Q9SZD6, A0KND9, A0QYY6, A1IR09, A1K7B5, A1KT19, A2SFM2, A3QGU0, A4SJR9, A4SXQ7, A5N848, A6Q4N2, A6TRK1, A8FYR5, A8H735, A8MFB4, A8ZZ59, A9KFK6, A9M3J0, A9ND62, B0TQ97, B1KRQ5, B1XUJ5, B1Y823
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 242 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 |
|---|---|---|---|
| Peptide chain elongation | 19 | 14.9× | 3e-15 |
| Viral mRNA Translation | 19 | 14.9× | 3e-15 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 19 | 14.7× | 3e-15 |
| Selenocysteine synthesis | 19 | 14.1× | 5e-15 |
| Eukaryotic Translation Termination | 19 | 14.1× | 5e-15 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 19 | 13.8× | 7e-15 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 19 | 13.8× | 7e-15 |
| Eukaryotic Translation Initiation | 7 | 13.3× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 20 | 16.6× | 5e-16 |
| positive regulation of viral genome replication | 5 | 13.0× | 5e-03 |
| ribosomal large subunit biogenesis | 6 | 11.9× | 2e-03 |
| negative regulation of viral genome replication | 7 | 11.8× | 5e-04 |
| dorsal/ventral pattern formation | 6 | 11.3× | 2e-03 |
| ribosomal small subunit biogenesis | 11 | 11.2× | 1e-06 |
| negative regulation of translation | 12 | 10.5× | 7e-07 |
| translation | 21 | 9.7× | 3e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
301 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 240 |
| Likely benign | 15 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6206 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:103398405:A:AG | acceptor_gain | 1.0000 |
| 10:103398405:ATT:A | acceptor_gain | 1.0000 |
| 10:103398406:T:G | acceptor_gain | 1.0000 |
| 10:103398407:T:TA | acceptor_gain | 1.0000 |
| 10:103398411:TTTAG:T | acceptor_loss | 1.0000 |
| 10:103398412:TTA:T | acceptor_loss | 1.0000 |
| 10:103398413:TA:T | acceptor_loss | 1.0000 |
| 10:103398414:A:AG | acceptor_gain | 1.0000 |
| 10:103398414:AG:A | acceptor_gain | 1.0000 |
| 10:103398415:G:GT | acceptor_gain | 1.0000 |
| 10:103398415:GG:G | acceptor_gain | 1.0000 |
| 10:103398415:GGA:G | acceptor_gain | 1.0000 |
| 10:103398415:GGAGA:G | acceptor_gain | 1.0000 |
| 10:103398524:TTGAT:T | donor_gain | 1.0000 |
| 10:103398525:TGAT:T | donor_gain | 1.0000 |
| 10:103398526:GAT:G | donor_gain | 1.0000 |
| 10:103398526:GATG:G | donor_gain | 1.0000 |
| 10:103398527:AT:A | donor_gain | 1.0000 |
| 10:103398529:G:GG | donor_gain | 1.0000 |
| 10:103398533:GTA:G | donor_gain | 1.0000 |
| 10:103400504:G:GT | donor_gain | 1.0000 |
| 10:103403113:TCTA:T | acceptor_loss | 1.0000 |
| 10:103403114:CTA:C | acceptor_loss | 1.0000 |
| 10:103403116:A:AG | acceptor_gain | 1.0000 |
| 10:103403116:AGTC:A | acceptor_loss | 1.0000 |
| 10:103403117:G:GT | acceptor_gain | 1.0000 |
| 10:103403117:GT:G | acceptor_gain | 1.0000 |
| 10:103403117:GTC:G | acceptor_gain | 1.0000 |
| 10:103403117:GTCC:G | acceptor_gain | 1.0000 |
| 10:103403117:GTCCC:G | acceptor_gain | 1.0000 |
AlphaMissense
12241 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:103442369:T:A | W1622R | 0.999 |
| 10:103442369:T:C | W1622R | 0.999 |
| 10:103442394:T:C | L1630P | 0.999 |
| 10:103443209:T:C | L1667P | 0.999 |
| 10:103443190:T:A | W1661R | 0.998 |
| 10:103443190:T:C | W1661R | 0.998 |
| 10:103443259:G:C | A1684P | 0.998 |
| 10:103444630:T:A | W1798R | 0.998 |
| 10:103444630:T:C | W1798R | 0.998 |
| 10:103413167:A:C | S344R | 0.997 |
| 10:103413169:C:A | S344R | 0.997 |
| 10:103413169:C:G | S344R | 0.997 |
| 10:103442373:T:C | L1623P | 0.997 |
| 10:103442421:G:C | R1639P | 0.997 |
| 10:103442438:G:C | A1645P | 0.997 |
| 10:103442439:C:A | A1645D | 0.997 |
| 10:103443260:C:A | A1684D | 0.997 |
| 10:103443299:T:C | L1697P | 0.997 |
| 10:103419632:G:A | G734D | 0.996 |
| 10:103419692:G:A | G754E | 0.996 |
| 10:103419698:C:A | A756D | 0.996 |
| 10:103421445:G:C | R792P | 0.996 |
| 10:103442417:G:C | A1638P | 0.996 |
| 10:103442429:G:C | A1642P | 0.996 |
| 10:103442430:C:A | A1642D | 0.996 |
| 10:103443203:T:C | L1665P | 0.996 |
| 10:103444541:C:A | A1768D | 0.996 |
| 10:103444619:G:C | R1794P | 0.996 |
| 10:103443200:T:C | L1664P | 0.995 |
| 10:103445494:T:A | V1854D | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000043549 (10:103439203 G>A), RS1000071275 (10:103403701 T>C), RS1000101911 (10:103403421 AAGTCTGGG>A), RS1000125660 (10:103419226 C>T), RS1000184300 (10:103401558 C>T), RS1000296052 (10:103395727 T>C), RS1000308596 (10:103438947 A>G,T), RS1000312489 (10:103407829 C>T), RS1000320703 (10:103408238 A>C,G), RS1000458992 (10:103435431 T>C), RS1000548339 (10:103414496 T>C), RS1000554748 (10:103421201 G>A), RS1000636224 (10:103401742 T>A), RS1000654932 (10:103428319 A>AC,AT), RS1000658501 (10:103414856 G>C)
Disease associations
OMIM: gene MIM:612333 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_2 | Schizophrenia | 4.000000e-13 |
| GCST002539_4 | Schizophrenia | 6.000000e-19 |
| GCST003013_17 | White matter hyperintensity burden | 2.000000e-09 |
| GCST003013_3 | White matter hyperintensity burden | 3.000000e-08 |
| GCST004521_172 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST008058_239 | Estimated glomerular filtration rate | 1.000000e-13 |
| GCST008059_163 | Estimated glomerular filtration rate | 1.000000e-10 |
| GCST008361_2 | Response to cognitive-behavioural therapy in major depressive disorder | 2.000000e-06 |
| GCST90000025_176 | Appendicular lean mass | 2.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067274 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.47 | Kd | 33.94 | nM | CHEMBL3752910 |
| 7.47 | ED50 | 33.94 | nM | CHEMBL3752910 |
| 7.14 | Kd | 71.72 | nM | CHEMBL5653589 |
| 7.14 | ED50 | 71.72 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148952: Binding affinity to human PDCD11 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0339 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148952: Binding affinity to human PDCD11 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0717 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 2 |
| Estradiol | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| beauvericin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| motexafin gadolinium | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cannabidiol | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Clozapine | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tretinoin | decreases 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 |
|---|---|---|---|
| CHEMBL5651994 | Binding | Binding affinity to human PDCD11 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.