NOP14
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Also known as RES4-25UTP2
Summary
NOP14 (NOP14 nucleolar protein, HGNC:16821) is a protein-coding gene on chromosome 4p16.3, encoding Nucleolar protein 14 (P78316). Involved in nucleolar processing of pre-18S ribosomal RNA. It is a common-essential gene (DepMap: required in 98.0% of cancer cell lines).
This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 8602 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 230 total
- Cancer dependency (DepMap): dependent in 98.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001291978
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16821 |
| Approved symbol | NOP14 |
| Name | NOP14 nucleolar protein |
| Location | 4p16.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RES4-25, UTP2 |
| Ensembl gene | ENSG00000087269 |
| Ensembl biotype | protein_coding |
| OMIM | 611526 |
| Entrez | 8602 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000314262, ENST00000398071, ENST00000416614, ENST00000502735, ENST00000507120, ENST00000878857, ENST00000878858, ENST00000919453, ENST00000966689, ENST00000966690
RefSeq mRNA: 3 — MANE Select: NM_001291978
NM_001291978, NM_001291979, NM_003703
CCDS: CCDS33945, CCDS77893
Canonical transcript exons
ENST00000416614 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000556298 | 2949934 | 2950213 |
| ENSE00000699268 | 2941582 | 2941729 |
| ENSE00000699269 | 2942192 | 2942351 |
| ENSE00000699270 | 2944073 | 2944226 |
| ENSE00000699272 | 2945128 | 2945229 |
| ENSE00000699275 | 2946412 | 2946547 |
| ENSE00000699277 | 2947526 | 2947611 |
| ENSE00000699281 | 2951114 | 2951245 |
| ENSE00000699283 | 2952275 | 2952397 |
| ENSE00000699284 | 2953511 | 2953645 |
| ENSE00000699285 | 2954424 | 2954563 |
| ENSE00000699286 | 2956670 | 2956811 |
| ENSE00000854907 | 2939188 | 2939343 |
| ENSE00000854909 | 2948278 | 2948408 |
| ENSE00001196817 | 2963125 | 2963406 |
| ENSE00001312822 | 2957606 | 2957740 |
| ENSE00001635773 | 2937936 | 2938930 |
| ENSE00003624345 | 2939527 | 2939645 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 92.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6852 / max 444.6013, expressed in 1823 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51160 | 33.2927 | 1823 |
| 51161 | 0.2317 | 87 |
| 51162 | 0.1608 | 47 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 92.54 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.16 | gold quality |
| muscle of leg | UBERON:0001383 | 90.48 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.98 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.70 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.32 | silver quality |
| calcaneal tendon | UBERON:0003701 | 88.13 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 88.03 | silver quality |
| body of pancreas | UBERON:0001150 | 87.87 | gold quality |
| pancreas | UBERON:0001264 | 87.83 | gold quality |
| muscle organ | UBERON:0001630 | 87.53 | gold quality |
| skin of leg | UBERON:0001511 | 86.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.79 | gold quality |
| left ovary | UBERON:0002119 | 86.54 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.96 | gold quality |
| gingiva | UBERON:0001828 | 85.91 | silver quality |
| lymph node | UBERON:0000029 | 85.90 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.59 | gold quality |
| ovary | UBERON:0000992 | 85.58 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.24 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.18 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.08 | gold quality |
| squamous epithelium | UBERON:0006914 | 85.07 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting NOP14, 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-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-21-5P | 99.46 | 70.54 | 1035 |
| HSA-MIR-590-5P | 99.25 | 70.76 | 930 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-4709-5P | 98.51 | 67.25 | 1335 |
| HSA-MIR-125A-3P | 97.04 | 66.92 | 902 |
| HSA-MIR-563 | 96.26 | 66.13 | 450 |
| HSA-MIR-380-5P | 95.68 | 67.32 | 512 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 8)
- our study provides new evidence for NOP14 in regulating PC cell proliferation and migration, and may provide new insights for clinical diagnosis and therapy. (PMID:22425761)
- NOP14 suppresses breast cancer progression by inhibiting NRIP1/Wnt/beta-catenin pathway. (PMID:26213846)
- Targeting NOP14 allows for effective suppression of tumor invasion in a mutp53-dependent manner, implicating NOP14 inhibition as a potential approach for attenuating metastasis in p53-mutant tumors (PMID:28280038)
- we identified an identical homozygous NOP14 variant as a possible contributing factor for RPL in two Iranian families. (PMID:29440706)
- CCND1, DNMT3B and NOP14 were identified as direct targets of miR-502-5p. (PMID:31971654)
- NOP14 regulates the growth, migration, and invasion of colorectal cancer cells by modulating the NRIP1/GSK-3beta/beta-catenin signaling pathway. (PMID:34218653)
- Increased expression of NOP14 is associated with improved prognosis due to immune regulation in colorectal cancer. (PMID:35473611)
- NOP14-mediated ribosome biogenesis is required for mTORC2 activation and predicts rapamycin sensitivity. (PMID:38272224)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nop14 | ENSDARG00000098859 |
| mus_musculus | Nop14 | ENSMUSG00000036693 |
| rattus_norvegicus | Nop14 | ENSRNOG00000012147 |
| drosophila_melanogaster | l(3)07882 | FBGN0010926 |
| caenorhabditis_elegans | nol-14 | WBGENE00021660 |
Protein
Protein identifiers
Nucleolar protein 14 — P78316 (reviewed: P78316)
Alternative names: Nucleolar complex protein 14
All UniProt accessions (2): P78316, E9PFK5
UniProt curated annotations — full annotation on UniProt →
Function. Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm.
Subunit / interactions. Component of the ribosomal small subunit (SSU) processome.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the NOP14 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P78316-1 | 1 | yes |
| P78316-2 | 2 |
RefSeq proteins (3): NP_001278907, NP_001278908, NP_003694 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007276 | Nop14 | Family |
Pfam: PF04147
UniProt features (20 total): compositionally biased region 8, modified residue 4, region of interest 3, splice variant 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P78316-F1 | 73.67 | 0.23 |
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): 96, 146, 148, 349
Function
Pathways and Gene Ontology
Reactome pathways
2 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 |
MSigDB gene sets: 142 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, KANNAN_TP53_TARGETS_DN, GNF2_MCM5, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, chr4p16, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN
GO Biological Process (8): endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447), maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), endonucleolytic cleavage to generate mature 5’-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472), endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), rRNA processing (GO:0006364), maturation of SSU-rRNA (GO:0030490), ribosomal small subunit biogenesis (GO:0042274), ribosome biogenesis (GO:0042254)
GO Molecular Function (3): RNA binding (GO:0003723), enzyme binding (GO:0019899), snoRNA binding (GO:0030515)
GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), membrane (GO:0016020), 90S preribosome (GO:0030686), Noc4p-Nop14p complex (GO:0030692), small-subunit processome (GO:0032040), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 3 |
| endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 3 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| preribosome | 2 |
| t-UTP complex | 2 |
| maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 1 |
| maturation of SSU-rRNA | 1 |
| rRNA 5’-end processing | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| RNA binding | 1 |
| intracellular membraneless organelle | 1 |
| 90S preribosome | 1 |
| preribosome, small subunit precursor | 1 |
| Noc complex | 1 |
| nucleolus | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2159 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOP14 | EMG1 | Q92979 | 986 |
| NOP14 | BYSL | Q13895 | 863 |
| NOP14 | MAT2A | P31153 | 828 |
| NOP14 | NOC4L | Q9BVI4 | 821 |
| NOP14 | BMS1 | Q14692 | 811 |
| NOP14 | UTP14A | Q9BVJ6 | 811 |
| NOP14 | UTP20 | O75691 | 798 |
| NOP14 | NAT10 | Q9H0A0 | 782 |
| NOP14 | PWP2 | Q15269 | 777 |
| NOP14 | RRP12 | Q5JTH9 | 766 |
| NOP14 | NOP56 | O00567 | 752 |
| NOP14 | PNO1 | Q9NRX1 | 735 |
| NOP14 | NOP58 | Q9Y2X3 | 733 |
| NOP14 | RRP9 | O43818 | 708 |
| NOP14 | TBL3 | Q12788 | 698 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| S100B | S100A4 | psi-mi:“MI:0914”(association) | 0.870 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| SEC31A | SEC13 | psi-mi:“MI:0914”(association) | 0.730 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| BYSL | PARN | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF414 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| IPO5 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC31A | NOP14 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| PURG | U2SURP | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| NOP14 | HMGA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NOP14 | HNRNPC | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ect2 | STX18 | psi-mi:“MI:0914”(association) | 0.350 |
| Vps4b | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (237): NOP14 (Affinity Capture-RNA), NOP14 (Affinity Capture-RNA), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS), NOP14 (Affinity Capture-MS)
ESM2 similar proteins: A1A5P2, A6QNR1, A8WY26, D3ZND0, O15213, O59678, P27672, P78316, Q0V8M0, Q15050, Q24K12, Q28IV8, Q2KIH4, Q2KII6, Q3T0Q8, Q3T0Z5, Q3UFY0, Q4KLC4, Q5M985, Q5RAS1, Q5RJT2, Q5TAP6, Q5TJE7, Q5ZKM1, Q640M1, Q6EJB6, Q6P0I6, Q6PFJ1, Q8BK35, Q8IY81, Q8N9T8, Q8NEJ9, Q8R3N1, Q8VDQ9, Q96BZ8, Q96EU6, Q9BRP8, Q9BRR8, Q9BVJ6, Q9C086
Diamond homologs: P78316, Q8R3N1, Q9VEJ2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 186 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 10 | 25.1× | 1e-10 |
| Cap-dependent Translation Initiation | 10 | 25.1× | 1e-10 |
| SARS-CoV-1 modulates host translation machinery | 10 | 25.1× | 1e-10 |
| Eukaryotic Translation Elongation | 10 | 22.6× | 3e-10 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 10 | 22.1× | 4e-10 |
| Influenza Viral RNA Transcription and Replication | 12 | 21.0× | 1e-11 |
| rRNA processing in the nucleus and cytosol | 16 | 20.9× | 7e-15 |
| rRNA modification in the nucleus and cytosol | 13 | 19.8× | 3e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| maturation of SSU-rRNA | 7 | 32.3× | 2e-07 |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 7 | 28.4× | 5e-07 |
| ribosomal small subunit biogenesis | 20 | 27.4× | 7e-21 |
| cytoplasmic translation | 16 | 17.9× | 2e-13 |
| rRNA processing | 15 | 12.8× | 2e-10 |
| translation | 16 | 9.9× | 1e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
230 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 171 |
| Likely benign | 11 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3180 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:2939213:T:TA | donor_gain | 1.0000 |
| 4:2939344:C:CC | acceptor_gain | 1.0000 |
| 4:2939526:CA:C | donor_gain | 1.0000 |
| 4:2939530:TTG:T | donor_gain | 1.0000 |
| 4:2939555:T:TA | donor_gain | 1.0000 |
| 4:2940549:CAT:C | donor_gain | 1.0000 |
| 4:2941576:CCTCA:C | donor_loss | 1.0000 |
| 4:2941577:CTCA:C | donor_loss | 1.0000 |
| 4:2941578:TCA:T | donor_loss | 1.0000 |
| 4:2941579:CA:C | donor_loss | 1.0000 |
| 4:2941581:C:CT | donor_loss | 1.0000 |
| 4:2941726:CAGT:C | acceptor_gain | 1.0000 |
| 4:2944068:CTCA:C | donor_loss | 1.0000 |
| 4:2944069:TCACC:T | donor_loss | 1.0000 |
| 4:2944070:CACC:C | donor_loss | 1.0000 |
| 4:2944222:GGGCA:G | acceptor_gain | 1.0000 |
| 4:2944223:GGCA:G | acceptor_gain | 1.0000 |
| 4:2944224:GCA:G | acceptor_gain | 1.0000 |
| 4:2944225:CA:C | acceptor_gain | 1.0000 |
| 4:2944225:CAC:C | acceptor_gain | 1.0000 |
| 4:2944226:AC:A | acceptor_loss | 1.0000 |
| 4:2944227:C:CC | acceptor_gain | 1.0000 |
| 4:2945123:CGCA:C | donor_loss | 1.0000 |
| 4:2945124:GCA:G | donor_loss | 1.0000 |
| 4:2945125:CA:C | donor_loss | 1.0000 |
| 4:2945127:C:CT | donor_loss | 1.0000 |
| 4:2945226:TGAG:T | acceptor_gain | 1.0000 |
| 4:2945228:AGCT:A | acceptor_loss | 1.0000 |
| 4:2945229:GC:G | acceptor_loss | 1.0000 |
| 4:2945230:C:CA | acceptor_loss | 1.0000 |
AlphaMissense
5677 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:2939239:C:G | R808P | 0.998 |
| 4:2939255:C:G | A803P | 0.996 |
| 4:2957740:G:T | R66S | 0.995 |
| 4:2939234:C:G | D810H | 0.994 |
| 4:2939248:C:G | R805P | 0.994 |
| 4:2957739:C:G | R66P | 0.994 |
| 4:2939219:C:G | A815P | 0.993 |
| 4:2939233:T:G | D810A | 0.993 |
| 4:2939254:G:T | A803D | 0.993 |
| 4:2939233:T:A | D810V | 0.992 |
| 4:2939259:T:A | K801N | 0.992 |
| 4:2939259:T:G | K801N | 0.992 |
| 4:2939269:C:G | R798P | 0.992 |
| 4:2938884:C:G | A841P | 0.991 |
| 4:2938898:A:G | L836P | 0.991 |
| 4:2939223:G:C | F813L | 0.990 |
| 4:2939223:G:T | F813L | 0.990 |
| 4:2939225:A:G | F813L | 0.990 |
| 4:2956762:A:G | L127S | 0.990 |
| 4:2938918:T:A | R829S | 0.989 |
| 4:2938918:T:G | R829S | 0.989 |
| 4:2963224:G:C | F32L | 0.989 |
| 4:2963224:G:T | F32L | 0.989 |
| 4:2963226:A:G | F32L | 0.989 |
| 4:2939287:A:G | L792P | 0.988 |
| 4:2938886:A:G | L840P | 0.986 |
| 4:2939221:A:G | L814P | 0.986 |
| 4:2939224:A:G | F813S | 0.986 |
| 4:2939240:G:T | R808S | 0.985 |
| 4:2963197:G:C | F41L | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000019339 (4:2952277 C>T), RS10000927 (4:2938702 C>T), RS1000115863 (4:2962812 G>A,C), RS10002702 (4:2938335 A>C,G,T), RS1000325986 (4:2955796 G>A), RS1000378478 (4:2956070 A>G), RS1000534086 (4:2965341 C>T), RS1000626257 (4:2960707 A>T), RS1000661384 (4:2957084 C>A), RS1000955249 (4:2940749 T>C), RS1001042502 (4:2945375 G>C), RS1001052841 (4:2962327 G>A,C), RS1001094861 (4:2945681 C>G), RS1001186450 (4:2960859 T>C), RS1001277981 (4:2951528 T>C)
Disease associations
OMIM: gene MIM:611526 | 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 |
|---|---|---|
| GCST004691_6 | Huntington’s disease progression | 3.000000e-06 |
| GCST008809_2 | Smoking behaviour (cigarettes smoked per day) | 3.000000e-08 |
| GCST009524_9 | Household income (MTAG) | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
| EFO:0006525 | cigarettes per day measurement |
| EFO:0009695 | household income |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Cuprizone | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Haloperidol | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| T-2 Toxin | increases 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): Huntington disease