CHLSN
gene geneOn this page
Also known as MGC11257YCR016W
Summary
CHLSN (cholesin, HGNC:22421) is a protein-coding gene on chromosome 7p22.3, encoding Protein cholesin (Q9BRJ6). Hormone secreted from the intestine in response to cholesterol, where it acts to inhibit cholesterol synthesis in the liver and VLDL secretion,leading to a reduction in circulating cholesterol levels.
Enables hormone activity. Involved in negative regulation of cholesterol biosynthetic process. Is active in extracellular space.
Source: NCBI Gene 84310 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 221 total
- Druggable target: yes
- MANE Select transcript:
NM_001318252
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22421 |
| Approved symbol | CHLSN |
| Name | cholesin |
| Location | 7p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC11257, YCR016W |
| Ensembl gene | ENSG00000146540 |
| Ensembl biotype | protein_coding |
| OMIM | 621174 |
| Entrez | 84310 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000357429, ENST00000397098, ENST00000397100, ENST00000412051, ENST00000444428, ENST00000465681, ENST00000488073, ENST00000491163, ENST00000853130, ENST00000853131
RefSeq mRNA: 11 — MANE Select: NM_001318252
NM_001134395, NM_001134396, NM_001318252, NM_001350968, NM_001350969, NM_001424325, NM_001424326, NM_001424327, NM_001424329, NM_001424333, NM_032350
CCDS: CCDS5320
Canonical transcript exons
ENST00000397098 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001034888 | 1127257 | 1127386 |
| ENSE00001527278 | 997006 | 997804 |
| ENSE00001564167 | 1137315 | 1138247 |
| ENSE00003459006 | 1000470 | 1000551 |
| ENSE00003573128 | 1009950 | 1010143 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 98.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.9860 / max 243.8719, expressed in 1823 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82401 | 32.8481 | 1810 |
| 82403 | 20.8245 | 1764 |
| 82400 | 4.3539 | 1569 |
| 82402 | 1.9595 | 923 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 98.18 | gold quality |
| right coronary artery | UBERON:0001625 | 97.24 | gold quality |
| pituitary gland | UBERON:0000007 | 96.85 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.71 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.68 | gold quality |
| amygdala | UBERON:0001876 | 96.62 | gold quality |
| apex of heart | UBERON:0002098 | 96.49 | gold quality |
| sural nerve | UBERON:0015488 | 96.49 | gold quality |
| popliteal artery | UBERON:0002250 | 96.28 | gold quality |
| tibial artery | UBERON:0007610 | 96.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.21 | gold quality |
| putamen | UBERON:0001874 | 95.87 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.74 | gold quality |
| tibial nerve | UBERON:0001323 | 95.70 | gold quality |
| aorta | UBERON:0000947 | 95.65 | gold quality |
| body of pancreas | UBERON:0001150 | 95.61 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.52 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.50 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.45 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.44 | gold quality |
| left coronary artery | UBERON:0001626 | 95.42 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.27 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.15 | gold quality |
| ascending aorta | UBERON:0001496 | 95.09 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.09 | gold quality |
| hypothalamus | UBERON:0001898 | 95.09 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.03 | gold quality |
| coronary artery | UBERON:0001621 | 94.96 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.95 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.89 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 57.15 |
| E-ANND-3 | yes | 11.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting CHLSN, 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-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-3675-3P | 99.09 | 67.70 | 968 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-7156-3P | 98.25 | 67.66 | 859 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-3173-5P | 97.35 | 65.82 | 1282 |
| HSA-MIR-6799-3P | 97.35 | 65.60 | 1302 |
| HSA-MIR-6742-5P | 96.32 | 64.01 | 869 |
| HSA-MIR-3937 | 87.69 | 61.61 | 103 |
Literature-anchored findings (GeneRIF, showing 2)
- Three ubiquitous methylation loci were consistently and strongly associated with type 2 diabetes in Ghanaians: TXNIP, C7orf50 and CPT1A (PMID:30107520)
- A gut-derived hormone regulates cholesterol metabolism. (PMID:38503280)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zmp:0000000624 | ENSDARG00000045254 |
| mus_musculus | Chlsn | ENSMUSG00000053553 |
| rattus_norvegicus | C12h7orf50 | ENSRNOG00000001289 |
Protein
Protein identifiers
Protein cholesin — Q9BRJ6 (reviewed: Q9BRJ6)
All UniProt accessions (4): Q9BRJ6, C9JQV0, H7C0T1, H7C2R9
UniProt curated annotations — full annotation on UniProt →
Function. Hormone secreted from the intestine in response to cholesterol, where it acts to inhibit cholesterol synthesis in the liver and VLDL secretion,leading to a reduction in circulating cholesterol levels. Acts through binding to its receptor, GPR146.
Subcellular location. Secreted.
Tissue specificity. Secreted from the instestine, secretion is induced by feeding and cholesterol absorption.
Induction. Expression is induced by feeding and cholesterol absorption.
RefSeq proteins (12): NP_001127867, NP_001127868, NP_001305181, NP_001337897, NP_001337898, NP_001411254, NP_001411255, NP_001411256, NP_001411258, NP_001411262, NP_001411263, NP_115726 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019327 | WKF | Domain |
Pfam: PF10180
UniProt features (7 total): modified residue 4, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRJ6-F1 | 75.36 | 0.47 |
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): 23, 59, 97, 175
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 128 (showing top):
GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_ALCOHOL_BIOSYNTHETIC_PROCESS, chr7p22, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CHOLESTEROL_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, ZHU_CMV_ALL_DN, GOBP_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS
GO Biological Process (4): negative regulation of cholesterol biosynthetic process (GO:0045541), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), regulation of cholesterol biosynthetic process (GO:0045540), positive regulation of cholesterol biosynthetic process (GO:0045542)
GO Molecular Function (3): RNA binding (GO:0003723), hormone activity (GO:0005179), protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cholesterol biosynthetic process | 3 |
| regulation of cholesterol biosynthetic process | 2 |
| negative regulation of cholesterol metabolic process | 1 |
| negative regulation of sterol biosynthetic process | 1 |
| negative regulation of alcohol biosynthetic process | 1 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 1 |
| adenylate cyclase inhibitor activity | 1 |
| regulation of cholesterol metabolic process | 1 |
| regulation of sterol biosynthetic process | 1 |
| regulation of alcohol biosynthetic process | 1 |
| positive regulation of cholesterol metabolic process | 1 |
| positive regulation of sterol biosynthetic process | 1 |
| positive regulation of alcohol biosynthetic process | 1 |
| nucleic acid binding | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1260 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHLSN | MAK16 | Q9BXY0 | 490 |
| CHLSN | CFAP74 | Q9C0B2 | 468 |
| CHLSN | TMA16 | Q96EY4 | 466 |
| CHLSN | SLC22A23 | A1A5C7 | 449 |
| CHLSN | GOLGA8CP | A6NN73 | 419 |
| CHLSN | ZNF705A | Q6ZN79 | 418 |
| CHLSN | EME2 | A4GXA9 | 416 |
| CHLSN | RNGTT | O60942 | 374 |
| CHLSN | GOLGA6L6 | A8MZA4 | 368 |
| CHLSN | ZAR1 | Q86SH2 | 365 |
| CHLSN | MYO19 | Q96H55 | 359 |
| CHLSN | GOLGA6L1 | Q8N7Z2 | 358 |
| CHLSN | STON2 | Q8WXE9 | 355 |
| CHLSN | GALNT9 | Q9HCQ5 | 349 |
| CHLSN | RASA3 | Q14644 | 348 |
IntAct
176 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHLSN | THAP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| THAP1 | CHLSN | psi-mi:“MI:0915”(physical association) | 0.720 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| GRN | CHLSN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHLSN | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | CHLSN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| CHLSN | RPL14 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| CHLSN | tax | psi-mi:“MI:0915”(physical association) | 0.490 |
| tax | CHLSN | psi-mi:“MI:0915”(physical association) | 0.490 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| CHLSN | ALDH1B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (218): C7orf50 (Two-hybrid), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Two-hybrid), C7orf50 (Affinity Capture-MS), C7orf50 (Reconstituted Complex), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS)
ESM2 similar proteins: B0K019, B2KF05, D3ZQL6, D4A615, D4ACP5, E1BBG2, O15037, O43159, O94762, P46087, Q07G43, Q15477, Q4KLL9, Q5REG4, Q5T124, Q5TKR9, Q5U4F0, Q5ZLK6, Q60739, Q6AXX1, Q6NZL6, Q6NZR5, Q6PFD6, Q6ZQF7, Q7L2J0, Q80U38, Q80V91, Q8BGT6, Q8BHW9, Q8BZ21, Q8C0J6, Q8C2K5, Q8CFK6, Q8IV53, Q8IY33, Q8K1S6, Q8K3A9, Q8N3F8, Q8N9I9, Q8TE77
Diamond homologs: Q5I0E3, Q9BRJ6, Q9CXL3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | C7orf50 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 194 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Peptide chain elongation | 21 | 20.7× | 2e-20 |
| Viral mRNA Translation | 21 | 20.7× | 2e-20 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 21 | 20.4× | 2e-20 |
| Selenocysteine synthesis | 21 | 19.6× | 5e-20 |
| Eukaryotic Translation Termination | 21 | 19.6× | 5e-20 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 21 | 19.2× | 6e-20 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 21 | 19.2× | 6e-20 |
| Formation of a pool of free 40S subunits | 22 | 19.1× | 2e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 22 | 23.4× | 2e-21 |
| ribosomal large subunit biogenesis | 7 | 17.8× | 2e-05 |
| translation | 23 | 13.6× | 5e-17 |
| ribosomal small subunit biogenesis | 10 | 13.1× | 1e-06 |
| rRNA processing | 14 | 11.4× | 8e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
221 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 178 |
| Likely benign | 18 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4199 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:1000547:CCCAT:C | acceptor_gain | 1.0000 |
| 7:1000548:CCAT:C | acceptor_gain | 1.0000 |
| 7:1000548:CCATC:C | acceptor_gain | 1.0000 |
| 7:1000549:CAT:C | acceptor_gain | 1.0000 |
| 7:1000549:CATC:C | acceptor_gain | 1.0000 |
| 7:1000552:C:CC | acceptor_gain | 1.0000 |
| 7:1055481:AAGGT:A | donor_loss | 1.0000 |
| 7:1055482:AGGTG:A | donor_loss | 1.0000 |
| 7:1055484:GT:G | donor_loss | 1.0000 |
| 7:1127251:CCTTA:C | donor_loss | 1.0000 |
| 7:1127252:CTTAC:C | donor_loss | 1.0000 |
| 7:1127253:TTA:T | donor_loss | 1.0000 |
| 7:1127254:TA:T | donor_loss | 1.0000 |
| 7:1127255:A:AC | donor_gain | 1.0000 |
| 7:1127255:A:AG | donor_loss | 1.0000 |
| 7:1127256:C:CC | donor_gain | 1.0000 |
| 7:1127382:CCATC:C | acceptor_gain | 1.0000 |
| 7:1127383:CATC:C | acceptor_gain | 1.0000 |
| 7:1127383:CATCC:C | acceptor_gain | 1.0000 |
| 7:1127384:ATC:A | acceptor_gain | 1.0000 |
| 7:1127385:TC:T | acceptor_gain | 1.0000 |
| 7:1127386:CC:C | acceptor_gain | 1.0000 |
| 7:1127386:CCTGC:C | acceptor_loss | 1.0000 |
| 7:1127387:C:CC | acceptor_gain | 1.0000 |
| 7:1127387:C:CG | acceptor_loss | 1.0000 |
| 7:1127388:T:C | acceptor_loss | 1.0000 |
| 7:1127393:C:CT | acceptor_gain | 1.0000 |
| 7:997803:ACCTG:A | acceptor_loss | 1.0000 |
| 7:997806:T:A | acceptor_loss | 1.0000 |
| 7:1000465:CACA:C | donor_loss | 0.9900 |
AlphaMissense
1232 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:1000521:A:C | F118L | 0.998 |
| 7:1000521:A:T | F118L | 0.998 |
| 7:1000523:A:G | F118L | 0.998 |
| 7:1000522:A:G | F118S | 0.991 |
| 7:1000522:A:C | F118C | 0.987 |
| 7:1000527:C:A | W116C | 0.986 |
| 7:1000527:C:G | W116C | 0.986 |
| 7:997787:G:C | F141L | 0.986 |
| 7:997787:G:T | F141L | 0.986 |
| 7:997789:A:G | F141L | 0.986 |
| 7:1000498:A:T | L126H | 0.983 |
| 7:1000529:A:G | W116R | 0.981 |
| 7:1000529:A:T | W116R | 0.981 |
| 7:1000523:A:C | F118V | 0.979 |
| 7:997767:A:G | L148P | 0.979 |
| 7:1000515:C:A | K120N | 0.978 |
| 7:1000515:C:G | K120N | 0.978 |
| 7:997803:A:T | V136D | 0.978 |
| 7:1000498:A:G | L126P | 0.977 |
| 7:997723:C:G | A163P | 0.977 |
| 7:997771:A:C | Y147D | 0.977 |
| 7:1000523:A:T | F118I | 0.975 |
| 7:1000506:C:A | Q123H | 0.973 |
| 7:1000506:C:G | Q123H | 0.973 |
| 7:1000495:A:G | L127P | 0.971 |
| 7:1000502:A:G | W125R | 0.971 |
| 7:1000502:A:T | W125R | 0.971 |
| 7:997758:A:G | L151P | 0.971 |
| 7:1000498:A:C | L126R | 0.969 |
| 7:997771:A:G | Y147H | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000005933 (7:1007706 T>A,C), RS1000011906 (7:1096458 G>A,C), RS1000046278 (7:1095532 C>T), RS1000090736 (7:1092673 C>T), RS1000090921 (7:1125086 G>A), RS1000095024 (7:1029555 C>T), RS1000099848 (7:1063601 G>A), RS1000105732 (7:978523 A>G), RS1000160165 (7:994418 C>A,G,T), RS1000172939 (7:1053060 G>T), RS1000174950 (7:979315 G>A), RS1000249512 (7:1070863 C>T), RS1000250523 (7:1021909 A>C), RS1000254419 (7:979290 C>T), RS1000257716 (7:1099195 G>A)
Disease associations
OMIM: gene MIM:621174 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000785_22 | Longevity | 1.000000e-06 |
| GCST003678_19 | C-reactive protein levels or total cholesterol levels (pleiotropy) | 3.000000e-09 |
| GCST003819_2 | Endometriosis | 3.000000e-06 |
| GCST006612_32 | LDL cholesterol | 2.000000e-16 |
| GCST006614_134 | Total cholesterol levels | 8.000000e-19 |
| GCST008084_165 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-08 |
| GCST008084_93 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-08 |
| GCST010204_188 | Low density lipoprotein cholesterol levels | 6.000000e-12 |
| GCST010242_139 | HDL cholesterol levels | 2.000000e-12 |
| GCST010242_291 | HDL cholesterol levels | 3.000000e-26 |
| GCST010245_81 | LDL cholesterol levels | 1.000000e-08 |
| GCST012489_75 | Heel bone mineral density x serum urate levels interaction | 4.000000e-09 |
| GCST90002385_174 | High light scatter reticulocyte count | 2.000000e-16 |
| GCST90002392_710 | Mean corpuscular volume | 5.000000e-12 |
| GCST90002397_496 | Mean spheric corpuscular volume | 1.000000e-12 |
| GCST90002405_215 | Reticulocyte count | 4.000000e-18 |
| GCST90002406_234 | Reticulocyte fraction of red cells | 7.000000e-17 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066340 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.82 | Kd | 15.12 | nM | CHEMBL3752910 |
| 7.82 | ED50 | 15.12 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147974: Binding affinity to human C7orf50 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0151 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, affects expression | 5 |
| bisphenol A | affects methylation, decreases expression, decreases methylation, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | 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 | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects expression | 1 |
| Benzene | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651016 | Binding | Binding affinity to human C7orf50 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): endometriosis