CFAP20
gene geneOn this page
Also known as GTL3fSAP23
Summary
CFAP20 (cilia and flagella associated protein 20, HGNC:29523) is a protein-coding gene on chromosome 16q21, encoding Cilia- and flagella-associated protein 20 (Q9Y6A4). Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. It is a selective cancer dependency (DepMap: 67.2% of cell lines).
Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm.
Source: NCBI Gene 29105 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 26 total — 5 likely-pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 67.2% of screened cell lines
- MANE Select transcript:
NM_013242
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29523 |
| Approved symbol | CFAP20 |
| Name | cilia and flagella associated protein 20 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GTL3, fSAP23 |
| Ensembl gene | ENSG00000070761 |
| Ensembl biotype | protein_coding |
| OMIM | 617906 |
| Entrez | 29105 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000262498, ENST00000562443, ENST00000562622, ENST00000564150, ENST00000565880, ENST00000567092, ENST00000567660, ENST00000896541, ENST00000933126, ENST00000933127, ENST00000933128
RefSeq mRNA: 1 — MANE Select: NM_013242
NM_013242
CCDS: CCDS10793
Canonical transcript exons
ENST00000262498 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000686445 | 58115269 | 58115457 |
| ENSE00000921088 | 58113592 | 58114030 |
| ENSE00001100813 | 58129032 | 58129381 |
| ENSE00003523794 | 58116041 | 58116152 |
| ENSE00003616717 | 58114810 | 58114920 |
| ENSE00003674010 | 58116872 | 58116951 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.9700 / max 200.2936, expressed in 1817 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157601 | 20.8007 | 1803 |
| 157602 | 10.3199 | 1779 |
| 157603 | 1.2948 | 883 |
| 157600 | 0.3090 | 121 |
| 157599 | 0.2109 | 76 |
| 157596 | 0.0346 | 6 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 98.09 | gold quality |
| sperm | CL:0000019 | 97.15 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.98 | gold quality |
| ventricular zone | UBERON:0003053 | 96.73 | gold quality |
| adult organism | UBERON:0007023 | 96.64 | gold quality |
| bronchus | UBERON:0002185 | 96.49 | gold quality |
| endothelial cell | CL:0000115 | 96.03 | gold quality |
| cortical plate | UBERON:0005343 | 95.92 | gold quality |
| left testis | UBERON:0004533 | 95.87 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.81 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.61 | gold quality |
| right testis | UBERON:0004534 | 95.55 | gold quality |
| embryo | UBERON:0000922 | 95.41 | gold quality |
| male germ cell | CL:0000015 | 95.33 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.29 | gold quality |
| right uterine tube | UBERON:0001302 | 95.16 | gold quality |
| upper leg skin | UBERON:0004262 | 95.11 | gold quality |
| testis | UBERON:0000473 | 94.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.76 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.59 | gold quality |
| retina | UBERON:0000966 | 94.56 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.19 | gold quality |
| pituitary gland | UBERON:0000007 | 94.11 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.05 | gold quality |
| caput epididymis | UBERON:0004358 | 94.04 | gold quality |
| skin of hip | UBERON:0001554 | 93.89 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.89 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 93.74 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.50 | gold quality |
| frontal cortex | UBERON:0001870 | 93.39 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81547 | yes | 11.89 |
| E-CURD-89 | no | 1104.20 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4, RELA, TADA2A, TBP
miRNA regulators (miRDB)
39 targeting CFAP20, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-425-5P | 99.59 | 67.67 | 900 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-5571-5P | 99.49 | 66.99 | 1764 |
| HSA-MIR-1206 | 99.30 | 69.32 | 1016 |
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 67.2% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cfap20 | ENSDARG00000100514 |
| mus_musculus | Cfap20 | ENSMUSG00000031796 |
| rattus_norvegicus | Cfap20 | ENSRNOG00000042179 |
| drosophila_melanogaster | Bug22 | FBGN0032248 |
| caenorhabditis_elegans | WBGENE00008288 |
Paralogs (1): CFAP20DC (ENSG00000163689)
Protein
Protein identifiers
Cilia- and flagella-associated protein 20 — Q9Y6A4 (reviewed: Q9Y6A4)
Alternative names: Basal body up-regulated protein 22, Transcription factor IIB
All UniProt accessions (2): Q9Y6A4, H3BPA3
UniProt curated annotations — full annotation on UniProt →
Function. Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Involved in the regulation of the size and morphology of cilia. Required for axonemal microtubules polyglutamylation.
Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with CFAP65.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body. Cilium axoneme. Flagellum axoneme.
Similarity. Belongs to the CFAP20 family.
RefSeq proteins (1): NP_037374* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007714 | CFA20_dom | Domain |
| IPR040441 | CFA20/CFAP20DC | Family |
Pfam: PF05018
UniProt features (1 total): chain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7UNG | ELECTRON MICROSCOPY | 3.6 |
| 8J07 | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6A4-F1 | 91.81 | 0.83 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 188 (showing top):
GOBP_BEHAVIOR, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, CMYB_01, RACCACAR_AML_Q6, GOBP_POSITIVE_REGULATION_OF_BEHAVIOR, GOCC_MICROTUBULE_ORGANIZING_CENTER, WEI_MYCN_TARGETS_WITH_E_BOX, PAX8_B, GOBP_REGULATION_OF_BEHAVIOR, GOBP_REGULATION_OF_FEEDING_BEHAVIOR, AML_Q6, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY
GO Biological Process (6): protein polyglutamylation (GO:0018095), flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271), regulation of cilium beat frequency involved in ciliary motility (GO:0060296), positive regulation of cell motility (GO:2000147), positive regulation of feeding behavior (GO:2000253)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (15): nucleoplasm (GO:0005654), centriole (GO:0005814), axonemal microtubule (GO:0005879), cilium (GO:0005929), motile cilium (GO:0031514), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), extracellular exosome (GO:0070062), sperm principal piece (GO:0097228), axonemal B tubule inner sheath (GO:0160112), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| cilium | 2 |
| peptidyl-glutamic acid modification | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| regulation of cilium beat frequency | 1 |
| regulation of cilium movement involved in cell motility | 1 |
| regulation of biological quality | 1 |
| positive regulation of locomotion | 1 |
| positive regulation of cellular process | 1 |
| cell motility | 1 |
| regulation of cell motility | 1 |
| feeding behavior | 1 |
| positive regulation of behavior | 1 |
| regulation of feeding behavior | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasmic microtubule | 1 |
| axoneme | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| 9+2 motile cilium | 1 |
| extracellular vesicle | 1 |
| sperm flagellum | 1 |
| A axonemal microtubule | 1 |
| axonemal microtubule doublet inner sheath | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1535 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFAP20 | TBP | P20226 | 912 |
| CFAP20 | GTF2B | Q00403 | 880 |
| CFAP20 | DRAP1 | Q14919 | 804 |
| CFAP20 | DR1 | Q01658 | 702 |
| CFAP20 | TBC1D32 | Q96NH3 | 528 |
| CFAP20 | REL | Q04864 | 481 |
| CFAP20 | FAHD2A | Q96GK7 | 468 |
| CFAP20 | H2BC21 | Q16778 | 461 |
| CFAP20 | H2AC19 | P20670 | 458 |
| CFAP20 | H2AC20 | Q16777 | 458 |
| CFAP20 | RELA | Q04206 | 443 |
| CFAP20 | HNF4A | P41235 | 428 |
| CFAP20 | CFAP298 | P57076 | 425 |
| CFAP20 | TMEM17 | Q86X19 | 422 |
| CFAP20 | CEP41 | Q9BYV8 | 403 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| CLASRP | CFAP20 | psi-mi:“MI:0915”(physical association) | 0.790 |
| ARL2BP | CFAP20 | psi-mi:“MI:0915”(physical association) | 0.790 |
| FOXJ1 | RFX3 | psi-mi:“MI:0914”(association) | 0.730 |
| LUC7L2 | ZRANB2 | psi-mi:“MI:0914”(association) | 0.640 |
| CFAP20 | SFSWAP | psi-mi:“MI:0914”(association) | 0.620 |
| SFSWAP | CFAP20 | psi-mi:“MI:0915”(physical association) | 0.620 |
| CFAP20 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.590 |
| CFAP20 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| CFAP20 | KPNA4 | psi-mi:“MI:0914”(association) | 0.510 |
| PRPF38A | H2BC17 | psi-mi:“MI:0914”(association) | 0.510 |
| SF3A2 | CFAP20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFAP20 | TFCP2L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Pqbp1 | PRPF4 | psi-mi:“MI:0914”(association) | 0.350 |
| Kif19 | psi-mi:“MI:0914”(association) | 0.350 | |
| FOXJ1 | ACSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CFAP20 | PRPF40A | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| CLK3 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK2 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (129): CFAP20 (Affinity Capture-MS), CFAP20 (Affinity Capture-MS), CFAP20 (Affinity Capture-MS), CFAP20 (Affinity Capture-MS), CFAP20 (Affinity Capture-MS), CFAP20 (Affinity Capture-MS), SFSWAP (Affinity Capture-MS), CLASRP (Affinity Capture-MS), U2AF1 (Affinity Capture-MS), SFSWAP (Affinity Capture-MS), TBC1D32 (Affinity Capture-MS), CDK20 (Affinity Capture-MS), ARL2BP (Affinity Capture-MS), CLASRP (Affinity Capture-MS), RABEPK (Affinity Capture-MS)
ESM2 similar proteins: A0A1S4A695, A0CDD4, A2VE01, A8IU92, B0R0D7, D3ZRP6, O88958, O97556, P46926, P48454, P50397, P50399, P62495, P62496, P62497, P62498, Q0VCX5, Q1W377, Q24208, Q259G4, Q3SYW1, Q499T7, Q4R7R3, Q503E1, Q5PQL4, Q5R4C7, Q5R8T8, Q5U2Q7, Q5ZHP3, Q5ZJL4, Q61598, Q64422, Q6B857, Q6GL74, Q6GPY6, Q6PBJ2, Q6Q7J2, Q7XPW5, Q8BTU1, Q8BWY3
Diamond homologs: A0CDD4, A8IU92, Q499T7, Q5ZHP3, Q61JK7, Q6B857, Q6GL74, Q6GPY6, Q6PBJ2, Q86D25, Q8BTU1, Q9VKV8, Q9Y6A4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 72 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 |
|---|---|---|---|
| mRNA Polyadenylation | 6 | 10.8× | 3e-03 |
| mRNA Splicing - Major Pathway | 8 | 8.9× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 8 | 11.1× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 5 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1701087 | NM_013242.3(CFAP20):c.305G>A (p.Arg102His) | Likely pathogenic |
| 1701088 | NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys) | Likely pathogenic |
| 1701089 | NM_013242.3(CFAP20):c.397del (p.Gln133fs) | Likely pathogenic |
| 1701090 | NM_013242.3(CFAP20):c.164+1G>A | Likely pathogenic |
| 1701091 | NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly) | Likely pathogenic |
SpliceAI
610 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:58114028:TTG:T | acceptor_gain | 1.0000 |
| 16:58115263:CAGTA:C | donor_loss | 1.0000 |
| 16:58115264:AGTAC:A | donor_loss | 1.0000 |
| 16:58115265:GTACC:G | donor_loss | 1.0000 |
| 16:58115266:TA:T | donor_loss | 1.0000 |
| 16:58115267:A:C | donor_loss | 1.0000 |
| 16:58115268:C:CA | donor_loss | 1.0000 |
| 16:58115268:CCT:C | donor_gain | 1.0000 |
| 16:58115270:TGC:T | donor_gain | 1.0000 |
| 16:58115271:G:A | donor_gain | 1.0000 |
| 16:58115453:AGTAC:A | acceptor_gain | 1.0000 |
| 16:58115454:GTAC:G | acceptor_gain | 1.0000 |
| 16:58115455:TAC:T | acceptor_gain | 1.0000 |
| 16:58115456:AC:A | acceptor_gain | 1.0000 |
| 16:58115457:CC:C | acceptor_gain | 1.0000 |
| 16:58115458:C:CA | acceptor_loss | 1.0000 |
| 16:58115458:C:CC | acceptor_gain | 1.0000 |
| 16:58115458:C:T | acceptor_gain | 1.0000 |
| 16:58115459:T:A | acceptor_loss | 1.0000 |
| 16:58115460:G:C | acceptor_gain | 1.0000 |
| 16:58115460:G:GC | acceptor_gain | 1.0000 |
| 16:58115465:A:AC | acceptor_gain | 1.0000 |
| 16:58115465:A:C | acceptor_gain | 1.0000 |
| 16:58115468:C:CT | acceptor_gain | 1.0000 |
| 16:58116038:TACC:T | donor_loss | 1.0000 |
| 16:58116039:A:AC | donor_gain | 1.0000 |
| 16:58116039:AC:A | donor_gain | 1.0000 |
| 16:58116039:ACCTG:A | donor_gain | 1.0000 |
| 16:58116040:C:CG | donor_gain | 1.0000 |
| 16:58116040:CC:C | donor_gain | 1.0000 |
AlphaMissense
1276 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:58115347:C:A | W129C | 1.000 |
| 16:58115347:C:G | W129C | 1.000 |
| 16:58115349:A:G | W129R | 1.000 |
| 16:58115349:A:T | W129R | 1.000 |
| 16:58115426:A:G | F103S | 1.000 |
| 16:58129043:A:G | W25R | 1.000 |
| 16:58129043:A:T | W25R | 1.000 |
| 16:58114895:C:G | R164P | 0.999 |
| 16:58114904:C:G | R161P | 0.999 |
| 16:58115348:C:G | W129S | 0.999 |
| 16:58115369:G:T | P122H | 0.999 |
| 16:58115377:G:C | C119W | 0.999 |
| 16:58115378:C:T | C119Y | 0.999 |
| 16:58115416:A:C | S106R | 0.999 |
| 16:58115416:A:T | S106R | 0.999 |
| 16:58115417:C:A | S106I | 0.999 |
| 16:58115418:T:G | S106R | 0.999 |
| 16:58115423:C:G | R104P | 0.999 |
| 16:58115432:C:G | R101P | 0.999 |
| 16:58115433:G:T | R101S | 0.999 |
| 16:58116885:C:A | G51W | 0.999 |
| 16:58116885:C:G | G51R | 0.999 |
| 16:58116885:C:T | G51R | 0.999 |
| 16:58129068:G:C | S16R | 0.999 |
| 16:58129068:G:T | S16R | 0.999 |
| 16:58129070:T:G | S16R | 0.999 |
| 16:58114856:A:G | L177P | 0.998 |
| 16:58114892:A:T | V165D | 0.998 |
| 16:58114898:C:G | R163P | 0.998 |
| 16:58114913:G:T | A158E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000101082 (16:58123622 A>C), RS1000358958 (16:58119848 C>A), RS1000360398 (16:58123738 T>C), RS1000453905 (16:58123403 T>C), RS1000460580 (16:58113463 T>C), RS1000529050 (16:58126895 T>C,G), RS1000582756 (16:58119458 A>G), RS1000811652 (16:58126570 A>C), RS1001364229 (16:58125440 T>C), RS1001483907 (16:58119297 G>A), RS1001537450 (16:58131104 C>T), RS1001572566 (16:58118683 G>T), RS1001668848 (16:58118730 G>A), RS1001701552 (16:58118934 C>T), RS1002464647 (16:58126303 G>T)
Disease associations
OMIM: gene MIM:617906 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005790_39 | Rosacea symptom severity | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724749 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.38 | Kd | 42 | nM | MOLIBRESIB |
| 7.10 | IC50 | 80 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179219: Binding affinity against C16ORF80 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0420 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression, affects response to substance | 3 |
| Smoke | decreases expression, increases abundance, increases expression | 3 |
| sodium arsenite | affects expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697589 | Binding | Inhibition of C16ORF80 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.