TM7SF2
gene geneOn this page
Also known as ANG1DHCR14ANET47
Summary
TM7SF2 (transmembrane 7 superfamily member 2, HGNC:11863) is a protein-coding gene on chromosome 11q13.1, encoding Delta(14)-sterol reductase TM7SF2 (O76062). Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. It is a selective cancer dependency (DepMap: 11.2% of cell lines).
Enables Delta14-sterol reductase activity. Involved in cholesterol biosynthetic process. Located in endoplasmic reticulum. Part of receptor complex.
Source: NCBI Gene 7108 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 71 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 11.2% of screened cell lines
- MANE Select transcript:
NM_003273
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11863 |
| Approved symbol | TM7SF2 |
| Name | transmembrane 7 superfamily member 2 |
| Location | 11q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ANG1, DHCR14A, NET47 |
| Ensembl gene | ENSG00000149809 |
| Ensembl biotype | protein_coding |
| OMIM | 603414 |
| Entrez | 7108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 24 protein_coding, 9 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000279263, ENST00000345348, ENST00000524690, ENST00000524986, ENST00000525385, ENST00000526048, ENST00000526085, ENST00000526809, ENST00000527851, ENST00000527968, ENST00000528026, ENST00000528802, ENST00000529233, ENST00000529292, ENST00000529414, ENST00000529601, ENST00000530650, ENST00000530750, ENST00000530892, ENST00000531029, ENST00000531321, ENST00000532328, ENST00000533646, ENST00000533766, ENST00000534371, ENST00000534667, ENST00000881612, ENST00000881613, ENST00000881614, ENST00000881620, ENST00000881621, ENST00000881622, ENST00000881623, ENST00000934219, ENST00000970956, ENST00000970957, ENST00000970958, ENST00000970959
RefSeq mRNA: 2 — MANE Select: NM_003273
NM_001277233, NM_003273
CCDS: CCDS41669, CCDS60846
Canonical transcript exons
ENST00000279263 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002150317 | 65115893 | 65116230 |
| ENSE00003488269 | 65111872 | 65112067 |
| ENSE00003489545 | 65113220 | 65113414 |
| ENSE00003497363 | 65112515 | 65112711 |
| ENSE00003548026 | 65114713 | 65114832 |
| ENSE00003618939 | 65112811 | 65112865 |
| ENSE00003668365 | 65113491 | 65113594 |
| ENSE00003784192 | 65115476 | 65115598 |
| ENSE00003788378 | 65115314 | 65115394 |
| ENSE00003789299 | 65114913 | 65115081 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 99.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.5382 / max 647.5938, expressed in 1604 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115026 | 21.5382 | 1604 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 99.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.14 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.02 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.93 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.85 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.02 | gold quality |
| adrenal gland | UBERON:0002369 | 98.01 | gold quality |
| body of pancreas | UBERON:0001150 | 95.52 | gold quality |
| endometrium epithelium | UBERON:0004811 | 95.51 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.44 | gold quality |
| apex of heart | UBERON:0002098 | 95.41 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.87 | gold quality |
| skin of leg | UBERON:0001511 | 94.49 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.96 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.74 | gold quality |
| zone of skin | UBERON:0000014 | 93.25 | gold quality |
| left ovary | UBERON:0002119 | 92.96 | gold quality |
| liver | UBERON:0002107 | 92.33 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.16 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.12 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.91 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.86 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.81 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.68 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.65 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.47 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.46 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.45 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.36 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 28.85 |
| E-ANND-3 | yes | 17.71 |
| E-MTAB-9388 | yes | 10.74 |
| E-MTAB-10596 | no | 244.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFYA, SP1, SREBF2
miRNA regulators (miRDB)
12 targeting TM7SF2, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-377-5P | 99.70 | 65.28 | 712 |
| HSA-MIR-6086 | 99.70 | 65.38 | 699 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-5587-5P | 99.07 | 68.58 | 838 |
| HSA-MIR-138-5P | 98.43 | 70.49 | 1292 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Results show that the TM7SF2 gene product SR-1 and six chimeras containing SR-1 and Neurospora erg-3 sequences fail to complement sterol c-14 reductase mutants in Neurospora and yeast. (PMID:11937680)
- a primary role in human cholesterol biosynthesis (PMID:16784888)
- LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum. (PMID:19940018)
- Data suggest that, besides the SRE motif, both the inverted CCAAT-box and GC-box2 are essential for full TM7SF2 promoter activation by SREBP-2. (PMID:20138239)
- Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally. (PMID:31911440)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tm7sf2 | ENSDARG00000032816 |
| mus_musculus | Tm7sf2 | ENSMUSG00000024799 |
| rattus_norvegicus | Tm7sf2 | ENSRNOG00000020989 |
Paralogs (2): LBR (ENSG00000143815), DHCR7 (ENSG00000172893)
Protein
Protein identifiers
Delta(14)-sterol reductase TM7SF2 — O76062 (reviewed: O76062)
Alternative names: 3-beta-hydroxysterol Delta (14)-reductase, Another new gene 1 protein, C-14 sterol reductase, Putative sterol reductase SR-1, Sterol C14-reductase, Transmembrane 7 superfamily member 2
All UniProt accessions (14): O76062, E9PK81, E9PLI3, E9PLL1, E9PLS9, E9PP79, E9PQ50, E9PQZ7, E9PRQ1, E9PS09, E9PS18, H0YCI8, H0YDY5, H0YEN6
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis.
Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, testis and adrenal gland, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leukocytes.
Induction. By sterol starvation.
Pathway. Steroid biosynthesis; cholesterol biosynthesis.
Similarity. Belongs to the ERG4/ERG24 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O76062-1 | 1 | yes |
| O76062-2 | 2 |
RefSeq proteins (2): NP_001264162, NP_003264* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001171 | ERG24_DHCR-like | Family |
| IPR018083 | Sterol_reductase_CS | Conserved_site |
Pfam: PF01222
Enzyme classification (BRENDA):
- EC 1.3.1.70 — DELTA14-sterol reductase (BRENDA: 16 organisms, 57 substrates, 84 inhibitors, 12 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 4,4-DIMETHYL-5ALPHA-CHOLESTA-7,14-DIEN-3BETA-OL | 0.0294–0.0345 | 3 |
| NADPH | 0.023–0.6 | 2 |
| 4ALPHA-METHYL-5ALPHA-ERGOSTA-8,14,24(28)-TRIEN-3 | 0.1 | 1 |
| 5ALPHA-CHOLESTA-8,14-DIEN-3BETA-OL | 0.45 | 1 |
| ERGOSTA-8,14-DIEN-3BETA-OL | 0.06 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- 4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+) = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H(+) (RHEA:18561)
- 5alpha-cholest-8,14-dien-3beta-ol + NADPH + H(+) = 5alpha-cholest-8-en-3beta-ol + NADP(+) (RHEA:46456)
- 4,4-dimethyl-8,14-cholestadien-3beta-ol + NADPH + H(+) = 4,4-dimethyl-5alpha-cholest-8-en-3beta-ol + NADP(+) (RHEA:46812)
UniProt features (21 total): binding site 8, transmembrane region 7, sequence variant 2, sequence conflict 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O76062-F1 | 94.07 | 0.88 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 338; 343; 350–351; 390; 394–398; 405; 311; 315
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-2426168 | Activation of gene expression by SREBF (SREBP) |
| R-HSA-6807047 | Cholesterol biosynthesis via desmosterol (Bloch pathway) |
| R-HSA-6807062 | Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway) |
| R-HSA-191273 | Cholesterol biosynthesis |
MSigDB gene sets: 198 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, JI_RESPONSE_TO_FSH_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, PEREZ_TP63_TARGETS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, chr11q13, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, SHEPARD_BMYB_MORPHOLINO_DN, MODULE_66, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, KOYAMA_SEMA3B_TARGETS_UP
GO Biological Process (7): cholesterol biosynthetic process (GO:0006695), obsolete cholesterol biosynthetic process via lathosterol (GO:0033490), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126)
GO Molecular Function (5): Delta14-sterol reductase activity (GO:0050613), NADP binding (GO:0050661), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)
GO Cellular Component (7): nuclear inner membrane (GO:0005637), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), signaling receptor complex (GO:0043235), membrane (GO:0016020), organelle membrane (GO:0031090)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cholesterol biosynthesis | 2 |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | 1 |
| Metabolism of steroids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sterol metabolic process | 2 |
| membrane | 2 |
| cholesterol metabolic process | 1 |
| sterol biosynthetic process | 1 |
| secondary alcohol biosynthetic process | 1 |
| primary metabolic process | 1 |
| steroid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| lipid metabolic process | 1 |
| secondary alcohol metabolic process | 1 |
| steroid biosynthetic process | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 1 |
| adenyl nucleotide binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cell periphery | 1 |
| protein-containing complex | 1 |
| cellular anatomical structure | 1 |
| membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1318 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TM7SF2 | ZNHIT2 | Q9UHR6 | 902 |
| TM7SF2 | EBP | Q15125 | 896 |
| TM7SF2 | SQLE | Q14534 | 830 |
| TM7SF2 | SC5D | O75845 | 784 |
| TM7SF2 | CYP51A1 | Q16850 | 782 |
| TM7SF2 | DHCR24 | Q15392 | 739 |
| TM7SF2 | NSDHL | Q15738 | 736 |
| TM7SF2 | FDFT1 | P37268 | 727 |
| TM7SF2 | MSMO1 | Q15800 | 719 |
| TM7SF2 | HSD17B7 | P56937 | 717 |
| TM7SF2 | LSS | P48449 | 702 |
| TM7SF2 | MVK | Q03426 | 697 |
| TM7SF2 | LMNB2 | Q03252 | 671 |
| TM7SF2 | HMGCS1 | Q01581 | 665 |
| TM7SF2 | MVD | P53602 | 664 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CYSRT1 | TM7SF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TM7SF2 | LCE2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TM7SF2 | CHRM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AP3B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| DISC1 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MYB | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAP2A | TM7SF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TM7SF2 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TM7SF2 | LCE2C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-MS), LCE2C (Two-hybrid), CYSRT1 (Two-hybrid), TM7SF2 (Two-hybrid), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-RNA), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-MS), SWAP70 (Cross-Linking-MS (XL-MS)), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-MS), TM7SF2 (Affinity Capture-RNA)
ESM2 similar proteins: A0A8C2M425, A1L1J9, A1L504, A6NH21, A8WCG0, B0BNG2, F1RMN2, O43292, O75908, O76062, O77759, O88496, O88908, O89109, P38435, Q07175, Q0P4Y8, Q49LS0, Q5KR61, Q5RF50, Q5XK03, Q5ZKZ9, Q643R3, Q658P3, Q6MG14, Q6NVG1, Q767L9, Q7TN60, Q7TPN3, Q7TQM4, Q7ZWN0, Q8BKF1, Q8C3X8, Q8IUH8, Q8IZY2, Q8N130, Q8VC65, Q8WMV1, Q91YD1, Q9BU23
Diamond homologs: A0A1D8PIC7, G4SW86, I1RF79, I1RR90, I1RZZ3, O08984, O13597, O76062, O88455, P23913, P25340, P32462, P36209, P38670, P78575, Q01447, Q09195, Q14739, Q3U9G9, Q4WJ59, Q4WJJ9, Q4WKA5, Q4WW43, Q54PP1, Q5E9J5, Q5R7H4, Q5UQI4, Q6P4M0, Q71KT5, Q7SXF1, Q7ZXH1, Q8WMV1, Q9LDR4, Q9LDU6, Q9UBM7, Q9Z2Z8, A0A1D8PJ25, Q8MLV1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1450 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:65112893:GAGT:G | donor_gain | 1.0000 |
| 11:65112896:T:G | donor_gain | 1.0000 |
| 11:65113485:CTCCA:C | acceptor_loss | 1.0000 |
| 11:65113488:CAGGC:C | acceptor_loss | 1.0000 |
| 11:65113489:A:AG | acceptor_gain | 1.0000 |
| 11:65113489:AGGC:A | acceptor_loss | 1.0000 |
| 11:65113490:G:GG | acceptor_gain | 1.0000 |
| 11:65113490:GGC:G | acceptor_gain | 1.0000 |
| 11:65113590:GCTGG:G | donor_gain | 1.0000 |
| 11:65113593:GG:G | donor_gain | 1.0000 |
| 11:65113594:GG:G | donor_gain | 1.0000 |
| 11:65113594:GGTA:G | donor_loss | 1.0000 |
| 11:65113595:G:GG | donor_gain | 1.0000 |
| 11:65113595:GT:G | donor_loss | 1.0000 |
| 11:65113596:T:G | donor_loss | 1.0000 |
| 11:65114708:CCCA:C | acceptor_loss | 1.0000 |
| 11:65114709:CCA:C | acceptor_loss | 1.0000 |
| 11:65114710:CAG:C | acceptor_loss | 1.0000 |
| 11:65114711:A:AG | acceptor_gain | 1.0000 |
| 11:65114711:AG:A | acceptor_gain | 1.0000 |
| 11:65114712:G:GT | acceptor_gain | 1.0000 |
| 11:65114712:GG:G | acceptor_gain | 1.0000 |
| 11:65114712:GGT:G | acceptor_gain | 1.0000 |
| 11:65114712:GGTC:G | acceptor_gain | 1.0000 |
| 11:65114712:GGTCC:G | acceptor_gain | 1.0000 |
| 11:65114829:CGAG:C | donor_loss | 1.0000 |
| 11:65114830:GAG:G | donor_gain | 1.0000 |
| 11:65114831:AGGTG:A | donor_loss | 1.0000 |
| 11:65114832:GG:G | donor_loss | 1.0000 |
| 11:65114834:T:A | donor_loss | 1.0000 |
AlphaMissense
2648 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:65115544:C:G | H348D | 0.997 |
| 11:65115354:A:C | K311N | 0.995 |
| 11:65115354:A:T | K311N | 0.995 |
| 11:65115331:T:C | F304L | 0.994 |
| 11:65115333:C:A | F304L | 0.994 |
| 11:65115333:C:G | F304L | 0.994 |
| 11:65115353:A:T | K311I | 0.993 |
| 11:65115563:A:C | D354A | 0.993 |
| 11:65113348:A:C | S145R | 0.992 |
| 11:65113350:C:A | S145R | 0.992 |
| 11:65113350:C:G | S145R | 0.992 |
| 11:65113558:A:C | K189N | 0.992 |
| 11:65113558:A:T | K189N | 0.992 |
| 11:65115531:G:C | W343C | 0.992 |
| 11:65115531:G:T | W343C | 0.992 |
| 11:65115563:A:T | D354V | 0.992 |
| 11:65115003:A:C | S272R | 0.991 |
| 11:65115005:C:A | S272R | 0.991 |
| 11:65115005:C:G | S272R | 0.991 |
| 11:65115365:G:C | R315P | 0.991 |
| 11:65115529:T:A | W343R | 0.991 |
| 11:65115529:T:C | W343R | 0.991 |
| 11:65115552:C:A | N350K | 0.991 |
| 11:65115552:C:G | N350K | 0.991 |
| 11:65115583:T:A | W361R | 0.991 |
| 11:65115583:T:C | W361R | 0.991 |
| 11:65115563:A:G | D354G | 0.990 |
| 11:65113592:T:A | W201R | 0.989 |
| 11:65113592:T:C | W201R | 0.989 |
| 11:65114831:A:T | E241V | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000178121 (11:65110168 C>T), RS1000855590 (11:65112928 C>T), RS1000879214 (11:65112813 G>A), RS1002288541 (11:65112183 C>A,T), RS1002337128 (11:65111945 G>C,T), RS1002937925 (11:65114656 T>C), RS1003075415 (11:65114376 G>A,T), RS1003343870 (11:65113014 A>C,G), RS1003713003 (11:65114299 G>GC), RS1003909028 (11:65113625 G>A), RS1004350643 (11:65112447 G>A,T), RS1004813594 (11:65110729 A>G), RS1004875494 (11:65116433 G>A), RS1004884411 (11:65112234 G>A), RS1005083131 (11:65111122 C>G,T)
Disease associations
OMIM: gene MIM:603414 | 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: yes
ChEMBL targets (1): CHEMBL5839 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 5 |
| bisphenol A | decreases expression, increases expression, affects expression | 4 |
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 4 |
| perfluorooctane sulfonic acid | decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol S | decreases expression, increases expression | 2 |
| Air Pollutants | increases oxidation, decreases expression, affects cotreatment, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| afimoxifene | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| yessotoxin | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| epoxiconazole | increases expression | 1 |
| monomethylarsonous acid | 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 | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3539026 | Binding | Inhibition of DHCR14 activity in human hepatocytes assessed as increase in FF-MAS level per gram of protein by GC-MS analysis (Rvb = 0.7 ug) | Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis. — Drug Metab Dispos |
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.