UTP15
gene geneOn this page
Also known as FLJ12787NET21FLJ23637
Summary
UTP15 (UTP15 small subunit processome component, HGNC:25758) is a protein-coding gene on chromosome 5q13.2, encoding U3 small nucleolar RNA-associated protein 15 homolog (Q8TED0). Ribosome biogenesis factor. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in endoplasmic reticulum and fibrillar center. Part of small-subunit processome.
Source: NCBI Gene 84135 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 63 total
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032175
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25758 |
| Approved symbol | UTP15 |
| Name | UTP15 small subunit processome component |
| Location | 5q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12787, NET21, FLJ23637 |
| Ensembl gene | ENSG00000164338 |
| Ensembl biotype | protein_coding |
| OMIM | 616194 |
| Entrez | 84135 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron
ENST00000296792, ENST00000508491, ENST00000508686, ENST00000509005, ENST00000510478, ENST00000512550, ENST00000513824, ENST00000543251, ENST00000862251, ENST00000862252, ENST00000862253, ENST00000918458, ENST00000918459, ENST00000918460
RefSeq mRNA: 3 — MANE Select: NM_032175
NM_001284430, NM_001284431, NM_032175
CCDS: CCDS34186, CCDS68893, CCDS68894
Canonical transcript exons
ENST00000296792 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001083635 | 73567262 | 73567434 |
| ENSE00001083654 | 73577856 | 73578005 |
| ENSE00001083655 | 73578751 | 73578852 |
| ENSE00001083657 | 73579317 | 73579375 |
| ENSE00001083661 | 73579017 | 73579150 |
| ENSE00001403511 | 73579877 | 73583380 |
| ENSE00003475611 | 73565743 | 73565912 |
| ENSE00003501028 | 73569497 | 73569675 |
| ENSE00003526394 | 73570586 | 73570711 |
| ENSE00003529543 | 73576952 | 73577036 |
| ENSE00003546940 | 73568420 | 73568604 |
| ENSE00003583494 | 73568235 | 73568327 |
| ENSE00003670164 | 73572489 | 73572624 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 91.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0920 / max 169.1686, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57044 | 16.5613 | 1783 |
| 57045 | 2.8644 | 1281 |
| 57046 | 0.6663 | 386 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 91.88 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.27 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.00 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.72 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.42 | gold quality |
| skin of leg | UBERON:0001511 | 83.84 | gold quality |
| islet of Langerhans | UBERON:0000006 | 83.76 | gold quality |
| rectum | UBERON:0001052 | 83.19 | gold quality |
| monocyte | CL:0000576 | 82.81 | gold quality |
| leukocyte | CL:0000738 | 82.53 | gold quality |
| zone of skin | UBERON:0000014 | 82.25 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.11 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.86 | gold quality |
| tendon | UBERON:0000043 | 81.54 | gold quality |
| bone marrow cell | CL:0002092 | 81.05 | gold quality |
| muscle of leg | UBERON:0001383 | 80.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.06 | gold quality |
| mucosa of stomach | UBERON:0001199 | 79.95 | gold quality |
| body of stomach | UBERON:0001161 | 79.77 | gold quality |
| pancreas | UBERON:0001264 | 79.59 | gold quality |
| esophagus mucosa | UBERON:0002469 | 79.38 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.25 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.20 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.03 | gold quality |
| left uterine tube | UBERON:0001303 | 79.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.00 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 78.98 | gold quality |
| lymph node | UBERON:0000029 | 78.96 | gold quality |
| adrenal gland | UBERON:0002369 | 78.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
94 targeting UTP15, 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-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | utp15 | ENSDARG00000002720 |
| mus_musculus | Utp15 | ENSMUSG00000041747 |
| rattus_norvegicus | Utp15 | ENSRNOG00000016591 |
| drosophila_melanogaster | CG3071 | FBGN0023527 |
| caenorhabditis_elegans | Y23H5B.5 | WBGENE00021276 |
Protein
Protein identifiers
U3 small nucleolar RNA-associated protein 15 homolog — Q8TED0 (reviewed: Q8TED0)
All UniProt accessions (4): A0A1Y8EI88, D6RF65, H0Y8P4, Q8TED0
UniProt curated annotations — full annotation on UniProt →
Function. Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75. Interacts directly with UTP4 and WDR43.
Subcellular location. Nucleus. Nucleolus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TED0-1 | 1 | yes |
| Q8TED0-2 | 2 | |
| Q8TED0-3 | 3 |
RefSeq proteins (3): NP_001271359, NP_001271360, NP_115551* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR018983 | U3_snoRNA-assocProt_15_C | Domain |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400, PF09384
UniProt features (55 total): strand 30, repeat 7, sequence conflict 4, sequence variant 3, turn 3, splice variant 2, helix 2, initiator methionine 1, chain 1, cross-link 1, modified residue 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7RUO | X-RAY DIFFRACTION | 1.8 |
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TED0-F1 | 82.24 | 0.34 |
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 (2): 249, 2
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: 126 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MATURATION_OF_SSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GARY_CD5_TARGETS_DN, FISCHER_DREAM_TARGETS, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, CUI_TCF21_TARGETS_2_UP, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX
GO Biological Process (5): rRNA processing (GO:0006364), ribosomal small subunit biogenesis (GO:0042274), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of rRNA processing (GO:2000234), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), 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 |
|---|---|
| cellular anatomical structure | 3 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| nucleolus | 2 |
| nuclear lumen | 2 |
| intracellular membrane-bounded organelle | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| regulation of transcription by RNA polymerase I | 1 |
| transcription by RNA polymerase I | 1 |
| positive regulation of DNA-templated transcription | 1 |
| rRNA processing | 1 |
| positive regulation of RNA metabolic process | 1 |
| regulation of rRNA processing | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
2645 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UTP15 | WDR43 | Q15061 | 982 |
| UTP15 | UTP4 | Q969X6 | 981 |
| UTP15 | HEATR1 | Q9H583 | 972 |
| UTP15 | WDR75 | Q8IWA0 | 941 |
| UTP15 | BMS1 | Q14692 | 778 |
| UTP15 | NOP58 | Q9Y2X3 | 753 |
| UTP15 | UTP6 | Q9NYH9 | 744 |
| UTP15 | UTP18 | Q9Y5J1 | 728 |
| UTP15 | NOP56 | O00567 | 710 |
| UTP15 | WDR36 | Q8NI36 | 710 |
| UTP15 | UTP14A | Q9BVJ6 | 704 |
| UTP15 | NOL10 | Q9BSC4 | 699 |
| UTP15 | NOP14 | P78316 | 645 |
| UTP15 | MPHOSPH10 | O00566 | 629 |
| UTP15 | BYSL | Q13895 | 627 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UTP4 | UTP15 | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL7 | WDR43 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| WDR43 | UTP15 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL11 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR75 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D15 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| UTP4 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| WDR43 | WDR75 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D15 | UBXN8 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL7 | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | TPST1 | psi-mi:“MI:0914”(association) | 0.530 |
| PARP2 | UTP15 | psi-mi:“MI:0557”(adp ribosylation reaction) | 0.440 |
| UTP15 | H4C16 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UTP15 | PGK2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATM | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncaph | ATP5MF-PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC6 | GLOD5 | psi-mi:“MI:0914”(association) | 0.350 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (159): UTP15 (Affinity Capture-MS), UTP15 (Affinity Capture-MS), UTP15 (Affinity Capture-MS), UTP15 (Affinity Capture-MS), UTP15 (Affinity Capture-MS), NPM1 (Co-fractionation), TBL3 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation), UTP15 (Co-fractionation)
ESM2 similar proteins: A2RRU3, A7MB12, A8XSW2, A8XYW9, G5ECZ4, G5EFW7, O13282, O14053, O43071, O75529, O94365, P25635, P38328, P40968, P42000, P49846, P87177, P91341, Q04199, Q04305, Q05946, Q05BV3, Q12220, Q15269, Q20059, Q3MKM6, Q5F3D7, Q5REE0, Q5RFQ3, Q5XGE2, Q6ED65, Q7ZW33, Q7ZXZ2, Q8BHB4, Q8BQM8, Q8BU03, Q8C7V3, Q8SQS4, Q8TED0, Q8VYZ5
Diamond homologs: A2RRU3, A7MB12, O02482, O82266, O94365, Q10282, Q5F3D7, Q5REE0, Q5XGE2, Q7ZW33, Q7ZXZ2, Q8C7V3, Q8TED0, B6QC56, B8AP31, C0NRC6, C6HTE8, O35828, P49177, Q40687, Q5RBW3, A0A1W2PR48, O13166, O13168, O14435, O42469, O42470, O42478, P16371, P16520, P40066, P63002, P63003, P79083, Q04724, Q04725, Q04726, Q04727, Q07141, Q08117
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UTP15 | “form complex” | “UTP-A complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 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 |
|---|---|---|---|
| rRNA modification in the nucleus and cytosol | 9 | 23.4× | 3e-08 |
| Nuclear RNA decay | 5 | 21.4× | 5e-04 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 13 | 11.2× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 10 | 23.0× | 1e-08 |
| ribosomal large subunit biogenesis | 5 | 22.4× | 7e-04 |
| rRNA processing | 11 | 15.7× | 4e-08 |
| RNA processing | 5 | 11.1× | 9e-03 |
| RNA splicing | 8 | 7.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1838 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:73568232:A:AG | acceptor_gain | 1.0000 |
| 5:73568233:A:G | acceptor_gain | 1.0000 |
| 5:73568326:GA:G | donor_gain | 1.0000 |
| 5:73568328:G:GG | donor_gain | 1.0000 |
| 5:73568418:A:AG | acceptor_gain | 1.0000 |
| 5:73568419:G:GG | acceptor_gain | 1.0000 |
| 5:73568605:G:GG | donor_gain | 1.0000 |
| 5:73572620:GA:G | donor_gain | 1.0000 |
| 5:73576948:TTAGG:T | acceptor_loss | 1.0000 |
| 5:73576949:TAGG:T | acceptor_loss | 1.0000 |
| 5:73576951:G:GT | acceptor_loss | 1.0000 |
| 5:73577034:GCA:G | donor_gain | 1.0000 |
| 5:73577035:CA:C | donor_gain | 1.0000 |
| 5:73577037:G:GG | donor_gain | 1.0000 |
| 5:73577852:TTAGC:T | acceptor_loss | 1.0000 |
| 5:73577854:A:AG | acceptor_gain | 1.0000 |
| 5:73577855:G:GT | acceptor_gain | 1.0000 |
| 5:73577855:GC:G | acceptor_gain | 1.0000 |
| 5:73577983:G:GT | donor_gain | 1.0000 |
| 5:73577984:A:T | donor_gain | 1.0000 |
| 5:73577996:G:GT | donor_gain | 1.0000 |
| 5:73578003:CGGGT:C | donor_loss | 1.0000 |
| 5:73578006:G:A | donor_loss | 1.0000 |
| 5:73578007:T:A | donor_loss | 1.0000 |
| 5:73578744:A:AG | acceptor_gain | 1.0000 |
| 5:73578746:TGCA:T | acceptor_loss | 1.0000 |
| 5:73578747:GCA:G | acceptor_loss | 1.0000 |
| 5:73578748:CAGGA:C | acceptor_loss | 1.0000 |
| 5:73578749:A:AG | acceptor_gain | 1.0000 |
| 5:73578749:A:AT | acceptor_loss | 1.0000 |
AlphaMissense
3387 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:73568311:T:A | V56D | 0.999 |
| 5:73572561:A:T | K249I | 0.999 |
| 5:73567420:T:A | W26R | 0.998 |
| 5:73567420:T:C | W26R | 0.998 |
| 5:73568266:T:A | V41D | 0.998 |
| 5:73568308:C:A | A55D | 0.998 |
| 5:73568429:T:G | Y65D | 0.998 |
| 5:73568502:G:C | R89P | 0.998 |
| 5:73568520:T:C | L95P | 0.998 |
| 5:73569573:T:A | W149R | 0.998 |
| 5:73569573:T:C | W149R | 0.998 |
| 5:73570586:G:A | G183E | 0.998 |
| 5:73572614:T:C | S267P | 0.998 |
| 5:73578809:T:C | L368P | 0.998 |
| 5:73579108:G:C | R413P | 0.998 |
| 5:73569543:T:C | S139P | 0.997 |
| 5:73572509:T:A | W232R | 0.997 |
| 5:73572509:T:C | W232R | 0.997 |
| 5:73572562:A:C | K249N | 0.997 |
| 5:73572562:A:T | K249N | 0.997 |
| 5:73572612:G:A | G266D | 0.997 |
| 5:73577881:G:A | G307E | 0.997 |
| 5:73578836:T:C | L377P | 0.997 |
| 5:73579099:T:C | L410P | 0.997 |
| 5:73568507:G:C | D91H | 0.996 |
| 5:73568508:A:T | D91V | 0.996 |
| 5:73568526:C:A | A97D | 0.996 |
| 5:73568529:G:A | G98D | 0.996 |
| 5:73568553:T:C | L106P | 0.996 |
| 5:73569516:T:C | F130L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000107909 (5:73580753 A>G), RS1000120750 (5:73564025 T>G), RS1000218021 (5:73573409 G>A), RS1000316267 (5:73565931 C>G,T), RS1000327010 (5:73573654 G>A), RS1000329196 (5:73566316 C>T), RS1000462808 (5:73571927 G>A), RS1000657839 (5:73564881 G>A,T), RS1000721020 (5:73565395 G>A), RS1000808385 (5:73569292 T>C), RS1001072354 (5:73577836 A>C), RS1001392620 (5:73575512 A>C), RS1001413388 (5:73565696 C>G), RS1001466679 (5:73565798 T>C,G), RS1001522088 (5:73578055 A>G)
Disease associations
OMIM: gene MIM:616194 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Formaldehyde | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| nivalenol | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
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.