UQCR10
gene geneOn this page
Also known as HSPC051UCRCQCR9UCCR7.2
Summary
UQCR10 (ubiquinol-cytochrome c reductase, complex III subunit X, HGNC:30863) is a protein-coding gene on chromosome 22q12.2, encoding Cytochrome b-c1 complex subunit 9 (Q9UDW1). Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. It is a selective cancer dependency (DepMap: 20.1% of cell lines).
UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).
Source: NCBI Gene 29796 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 9 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 20.1% of screened cell lines
- MANE Select transcript:
NM_013387
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30863 |
| Approved symbol | UQCR10 |
| Name | ubiquinol-cytochrome c reductase, complex III subunit X |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC051, UCRC, QCR9, UCCR7.2 |
| Ensembl gene | ENSG00000184076 |
| Ensembl biotype | protein_coding |
| OMIM | 610843 |
| Entrez | 29796 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000330029, ENST00000401406, ENST00000894362, ENST00000894363
RefSeq mRNA: 2 — MANE Select: NM_013387
NM_001003684, NM_013387
CCDS: CCDS46680, CCDS46681
Canonical transcript exons
ENST00000330029 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001554436 | 29767369 | 29767548 |
| ENSE00001802165 | 29769678 | 29770413 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 135.9688 / max 1314.3100, expressed in 1825 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191631 | 135.9688 | 1825 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of tongue | UBERON:0011876 | 99.61 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.56 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.48 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.39 | gold quality |
| diaphragm | UBERON:0001103 | 99.38 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.38 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.37 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.34 | gold quality |
| pons | UBERON:0000988 | 99.33 | gold quality |
| biceps brachii | UBERON:0001507 | 99.33 | gold quality |
| adult organism | UBERON:0007023 | 99.25 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.22 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.21 | gold quality |
| renal medulla | UBERON:0000362 | 99.17 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.16 | gold quality |
| tongue | UBERON:0001723 | 99.16 | gold quality |
| triceps brachii | UBERON:0001509 | 99.10 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.09 | gold quality |
| jejunum | UBERON:0002115 | 99.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.08 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.07 | gold quality |
| apex of heart | UBERON:0002098 | 99.07 | gold quality |
| oral cavity | UBERON:0000167 | 99.03 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.99 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.95 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.94 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.89 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.89 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.87 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 75.57 |
| E-MTAB-8410 | yes | 47.50 |
| E-HCAD-10 | yes | 30.75 |
| E-MTAB-7316 | yes | 21.91 |
| E-GEOD-135922 | yes | 10.33 |
| E-GEOD-106540 | no | 708.18 |
| E-MTAB-7606 | no | 539.91 |
| E-MTAB-6379 | no | 466.13 |
| E-MTAB-7037 | no | 332.36 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting UQCR10, 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-1911-5P | 98.92 | 67.53 | 325 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-676-5P | 98.49 | 68.87 | 1492 |
| HSA-MIR-892B | 98.00 | 67.11 | 821 |
| HSA-MIR-6819-5P | 97.96 | 66.59 | 1071 |
| HSA-MIR-943 | 97.81 | 64.42 | 694 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Functionality of complex III of the mitochondrial electron transport chain is required for the hypoxic stabilization of HIF-1 alpha and HIF-2 alpha (PMID:16054089)
- Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients (PMID:22277967)
- Reciprocal fusion gene involving UQCR10 and C1orf194 is associated with spinal ependymoma. (PMID:27401149)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | uqcr10 | ENSDARG00000104517 |
| mus_musculus | Uqcr10 | ENSMUSG00000059534 |
| rattus_norvegicus | Uqcr10-ps1 | ENSRNOG00000009521 |
| rattus_norvegicus | Uqcr10 | ENSRNOG00000059061 |
Protein
Protein identifiers
Cytochrome b-c1 complex subunit 9 — Q9UDW1 (reviewed: Q9UDW1)
Alternative names: Complex III subunit 9, Complex III subunit X, Cytochrome c1 non-heme 7 kDa protein, Ubiquinol-cytochrome c reductase complex 7.2 kDa protein
All UniProt accessions (1): Q9UDW1
UniProt curated annotations — full annotation on UniProt →
Function. Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c.
Subunit / interactions. Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1. The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)). Interacts with STMP1.
Subcellular location. Mitochondrion inner membrane.
Similarity. Belongs to the UQCR10/QCR9 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UDW1-1 | 1 | yes |
| Q9UDW1-2 | 2 |
RefSeq proteins (2): NP_001003684, NP_037519* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008027 | QCR9 | Family |
| IPR036656 | QCR9_sf | Homologous_superfamily |
Pfam: PF05365
UniProt features (13 total): turn 3, helix 3, topological domain 2, initiator methionine 1, chain 1, transmembrane region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9HZL | ELECTRON MICROSCOPY | 2.52 |
| 9CG3 | ELECTRON MICROSCOPY | 2.96 |
| 5XTE | ELECTRON MICROSCOPY | 3.4 |
| 5XTH | ELECTRON MICROSCOPY | 3.9 |
| 5XTI | ELECTRON MICROSCOPY | 17.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UDW1-F1 | 95.04 | 0.92 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-611105 | Respiratory electron transport |
| R-HSA-9865881 | Complex III assembly |
MSigDB gene sets: 188 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, TGACCTY_ERR1_Q2, GOBP_MONOATOMIC_CATION_TRANSPORT, AACWWCAANK_UNKNOWN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_MITOCHONDRIAL_ELECTRON_TRANSPORT_UBIQUINOL_TO_CYTOCHROME_C, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, KEGG_HUNTINGTONS_DISEASE, GOCC_MITOCHONDRIAL_ENVELOPE, HNF4_01, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13
GO Biological Process (3): mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122), cellular respiration (GO:0045333), proton transmembrane transport (GO:1902600)
GO Molecular Function (2): quinol-cytochrome-c reductase activity (GO:0008121), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex III (GO:0045275), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Aerobic respiration and respiratory electron transport | 1 |
| Respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| energy derivation by oxidation of organic compounds | 1 |
| monoatomic cation transmembrane transport | 1 |
| electron transfer activity | 1 |
| proton transmembrane transporter activity | 1 |
| oxidoreduction-driven active transmembrane transporter activity | 1 |
| oxidoreductase activity, acting on diphenols and related substances as donors | 1 |
| active monoatomic ion transmembrane transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cytochrome complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
| oxidoreductase complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1791 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UQCR10 | HSCB | Q8IWL3 | 957 |
| UQCR10 | UQCRH | P07919 | 947 |
| UQCR10 | UQCRB | P14927 | 945 |
| UQCR10 | UQCRQ | O14949 | 933 |
| UQCR10 | MT-CYB | P00156 | 854 |
| UQCR10 | CYC1 | P08574 | 840 |
| UQCR10 | UQCRC2 | P22695 | 839 |
| UQCR10 | UQCR11 | O14957 | 833 |
| UQCR10 | UQCRC1 | P31930 | 830 |
| UQCR10 | UQCRFS1 | P47985 | 827 |
| UQCR10 | OSBP2 | Q969R2 | 810 |
| UQCR10 | COX6B1 | P14854 | 769 |
| UQCR10 | COX5B | P10606 | 732 |
| UQCR10 | COX7B | P24311 | 669 |
| UQCR10 | CYCS | P00001 | 667 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UQCRC1 | UQCRQ | psi-mi:“MI:0915”(physical association) | 0.740 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| UQCRH | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
| UQCRQ | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| KPNB1 | POM121C | psi-mi:“MI:0914”(association) | 0.530 |
| OLFML3 | UQCR10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DENR | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NDUFA11 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| S100A4 | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| NMES1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NMES1 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
| RALB | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| RALB | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| MYLK2 | PSMD3 | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| UQCR10 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
| TMED10 | CYC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC52A3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): UQCR10 (Affinity Capture-RNA), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Synthetic Lethality), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS)
ESM2 similar proteins: A2VDV9, A5PJ82, C0HLM6, D2H617, D3Z7Q2, D3Z9R8, D4ACP2, E2R5I0, E7EXZ6, F1MDB2, F6USH3, G1QDE8, G1S9B8, O00483, P00130, P10818, P11951, P13182, P43024, P56378, P56379, Q01321, Q0MQ97, Q0MQ98, Q0MQ99, Q0Q4Z0, Q28851, Q2NKS2, Q3SZ44, Q3YAJ5, Q4FZG9, Q4R542, Q5RCY6, Q5RDZ8, Q5REX0, Q62425, Q69YU5, Q6PBH5, Q78RX3, Q7YRK7
Diamond homologs: A0A1D8PLP3, O74433, P00130, Q6CJX2, Q8R1I1, Q9UDW1, P22289, Q7SGT7, Q9XY35, Q54QR8, Q9LXJ2, P46270
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UQCR10 | “form complex” | “CoQ-cytochrome c reductase-Mitochondrial respiratory chain complex III” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 52 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 |
|---|---|---|---|
| Respiratory electron transport | 10 | 25.0× | 1e-09 |
| Complex I biogenesis | 5 | 21.8× | 4e-04 |
| Aerobic respiration and respiratory electron transport | 5 | 11.7× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| aerobic respiration | 6 | 32.3× | 9e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
9 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
314 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:29767545:GGGG:G | donor_gain | 1.0000 |
| 22:29767546:G:GT | donor_gain | 1.0000 |
| 22:29767546:GGG:G | donor_gain | 1.0000 |
| 22:29767546:GGGGT:G | donor_loss | 1.0000 |
| 22:29767547:GG:G | donor_gain | 1.0000 |
| 22:29767547:GGG:G | donor_gain | 1.0000 |
| 22:29767547:GGGTG:G | donor_loss | 1.0000 |
| 22:29767548:GG:G | donor_gain | 1.0000 |
| 22:29767548:GGTGA:G | donor_loss | 1.0000 |
| 22:29767550:T:A | donor_loss | 1.0000 |
| 22:29769676:A:AG | acceptor_gain | 1.0000 |
| 22:29769677:G:GG | acceptor_gain | 1.0000 |
| 22:29767549:G:GG | donor_gain | 0.9900 |
| 22:29767593:GAC:G | donor_gain | 0.9900 |
| 22:29767594:ACA:A | donor_gain | 0.9900 |
| 22:29769671:A:AG | acceptor_gain | 0.9900 |
| 22:29769673:T:G | acceptor_gain | 0.9900 |
| 22:29769677:GAA:G | acceptor_gain | 0.9900 |
| 22:29769670:A:G | acceptor_gain | 0.9800 |
| 22:29769673:TGCAG:T | acceptor_loss | 0.9800 |
| 22:29769674:GCAG:G | acceptor_loss | 0.9800 |
| 22:29769675:CAGAA:C | acceptor_loss | 0.9800 |
| 22:29769676:A:C | acceptor_loss | 0.9800 |
| 22:29769677:G:GC | acceptor_loss | 0.9800 |
| 22:29769677:GA:G | acceptor_gain | 0.9800 |
| 22:29767519:G:GT | donor_gain | 0.9700 |
| 22:29769662:T:A | acceptor_loss | 0.9700 |
| 22:29769669:A:AG | acceptor_gain | 0.9700 |
| 22:29769672:A:G | acceptor_gain | 0.9700 |
| 22:29769677:GAAGC:G | acceptor_gain | 0.9700 |
AlphaMissense
414 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:29767480:G:C | G28R | 0.973 |
| 22:29769686:G:C | W53C | 0.971 |
| 22:29769686:G:T | W53C | 0.971 |
| 22:29769684:T:A | W53R | 0.956 |
| 22:29769684:T:C | W53R | 0.956 |
| 22:29767478:T:A | V27E | 0.948 |
| 22:29767463:C:A | A22D | 0.947 |
| 22:29767496:A:T | E33V | 0.938 |
| 22:29767546:G:T | G50W | 0.936 |
| 22:29767522:G:C | A42P | 0.935 |
| 22:29767526:T:A | I43N | 0.935 |
| 22:29769682:T:C | L52P | 0.934 |
| 22:29767481:G:A | G28D | 0.929 |
| 22:29767466:T:A | L23H | 0.926 |
| 22:29767516:G:C | A40P | 0.920 |
| 22:29769680:G:C | K51N | 0.920 |
| 22:29769680:G:T | K51N | 0.920 |
| 22:29767448:G:T | R17M | 0.919 |
| 22:29767547:G:T | G50V | 0.918 |
| 22:29769685:G:C | W53S | 0.918 |
| 22:29769698:G:C | K57N | 0.918 |
| 22:29769698:G:T | K57N | 0.918 |
| 22:29767466:T:G | L23R | 0.917 |
| 22:29767546:G:A | G50R | 0.915 |
| 22:29767546:G:C | G50R | 0.915 |
| 22:29767502:C:A | A35D | 0.913 |
| 22:29767499:G:C | R34P | 0.910 |
| 22:29767513:G:C | G39R | 0.898 |
| 22:29767517:C:A | A40E | 0.895 |
| 22:29767504:T:C | F36L | 0.894 |
dbSNP variants (sampled 300 via entrez): RS1000215510 (22:29770712 T>C), RS1001496647 (22:29769359 G>A), RS1001821344 (22:29768967 C>G), RS1002449165 (22:29767529 A>G,T), RS1002884328 (22:29767127 G>GGGA), RS1003576055 (22:29770746 G>T), RS1004565234 (22:29768920 C>T), RS1004724399 (22:29766852 C>A,T), RS1005000154 (22:29769341 A>C), RS1005701117 (22:29765475 C>T), RS1006501189 (22:29770238 A>C), RS1006646477 (22:29770491 G>C), RS1006742916 (22:29770365 A>G), RS1007608945 (22:29769061 A>G), RS1007791336 (22:29767061 G>A)
Disease associations
OMIM: gene MIM:610843 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003974_1 | Tonsillectomy | 1.000000e-09 |
| GCST004131_67 | Inflammatory bowel disease | 4.000000e-08 |
| GCST004132_86 | Crohn’s disease | 8.000000e-07 |
| GCST005537_65 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 6.000000e-09 |
| GCST006629_42 | Pulse pressure | 2.000000e-11 |
| GCST90002387_177 | Immature fraction of reticulocytes | 4.000000e-28 |
| GCST90020026_214 | Hip index | 2.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2388 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| bisphenol A | affects expression, decreases expression | 3 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| Doxorubicin | increases expression, affects expression | 2 |
| Lipopolysaccharides | affects cotreatment, decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Fluorouracil | affects expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 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 |
|---|---|---|---|
| CHEMBL663989 | Binding | Compound was tested for inhibition of Cytochrome bc1 complex in controling fungal diseases in crop plants; Active | Synthesis and structural analysis of the active enantiomer of famoxadone, a potent inhibitor of cytochrome bc1. — Bioorg Med Chem Lett |
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.