OSBPL11
gene geneOn this page
Also known as ORP-11ORP11FLJ13012FLJ13164
Summary
OSBPL11 (oxysterol binding protein like 11, HGNC:16397) is a protein-coding gene on chromosome 3q21.2, encoding Oxysterol-binding protein-related protein 11 (Q9BXB4). Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage.
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain.
Source: NCBI Gene 114885 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 105 total
- MANE Select transcript:
NM_022776
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16397 |
| Approved symbol | OSBPL11 |
| Name | oxysterol binding protein like 11 |
| Location | 3q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ORP-11, ORP11, FLJ13012, FLJ13164 |
| Ensembl gene | ENSG00000144909 |
| Ensembl biotype | protein_coding |
| OMIM | 606739 |
| Entrez | 114885 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000296220, ENST00000910154, ENST00000910155, ENST00000910156, ENST00000910157, ENST00000931704, ENST00000931705, ENST00000931706, ENST00000953165
RefSeq mRNA: 1 — MANE Select: NM_022776
NM_022776
CCDS: CCDS3033
Canonical transcript exons
ENST00000296220 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000967853 | 125579865 | 125580040 |
| ENSE00000967854 | 125578960 | 125579039 |
| ENSE00000967855 | 125576189 | 125576365 |
| ENSE00000967856 | 125567394 | 125567595 |
| ENSE00001079273 | 125582910 | 125582978 |
| ENSE00001079275 | 125560379 | 125560519 |
| ENSE00001079276 | 125552181 | 125552679 |
| ENSE00001079279 | 125547406 | 125547592 |
| ENSE00001079281 | 125538451 | 125538633 |
| ENSE00001079283 | 125531861 | 125532014 |
| ENSE00001079287 | 125563698 | 125563843 |
| ENSE00001154393 | 125594637 | 125595497 |
| ENSE00001942711 | 125528858 | 125530580 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 95.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6303 / max 103.9363, expressed in 1716 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44307 | 3.3579 | 1391 |
| 44304 | 2.1564 | 986 |
| 44305 | 1.8159 | 853 |
| 44306 | 1.4690 | 928 |
| 44303 | 0.8311 | 495 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| biceps brachii | UBERON:0001507 | 95.86 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.18 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.72 | gold quality |
| diaphragm | UBERON:0001103 | 94.49 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.12 | gold quality |
| deltoid | UBERON:0001476 | 93.39 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.18 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 93.12 | gold quality |
| muscle organ | UBERON:0001630 | 92.91 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.91 | gold quality |
| muscle of leg | UBERON:0001383 | 92.50 | gold quality |
| monocyte | CL:0000576 | 92.20 | gold quality |
| mononuclear cell | CL:0000842 | 92.04 | gold quality |
| leukocyte | CL:0000738 | 91.73 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.73 | silver quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.54 | gold quality |
| secondary oocyte | CL:0000655 | 91.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.19 | gold quality |
| cranial nerve II | UBERON:0000941 | 90.95 | gold quality |
| gluteal muscle | UBERON:0002000 | 90.39 | gold quality |
| triceps brachii | UBERON:0001509 | 89.31 | gold quality |
| muscle tissue | UBERON:0002385 | 89.00 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.11 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 87.89 | gold quality |
| blood | UBERON:0000178 | 87.42 | gold quality |
| globus pallidus | UBERON:0001875 | 86.95 | gold quality |
| visceral pleura | UBERON:0002401 | 86.57 | gold quality |
| body of tongue | UBERON:0011876 | 86.01 | gold quality |
| oocyte | CL:0000023 | 85.86 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.85 |
| E-MTAB-6142 | no | 60.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
190 targeting OSBPL11, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
Literature-anchored findings (GeneRIF, showing 4)
- The OSBPL11 gene is involved in cholesterol and glucose metabolism in obese individuals. (PMID:19325544)
- The results identify ORP11 as an OSBP homologue distributing at the Golgi-LE interface and define the ORP9-ORP11 dimer as a functional unit that may act as an intracellular lipid sensor or transporter. (PMID:20599956)
- ORP8 overexpression resulted in reduced expression of the aP2 mRNA, while down-regulation of adiponectin and aP2 was observed in ORP11 silenced cells. ORP8 overexpression or silencing of ORP11 markedly decreased cellular triglyceride storage. (PMID:23028956)
- OSBPL11 is down-regulated and may be a potential indicator for hepatocellular carcinoma. (PMID:31173207)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | osbpl11 | ENSDARG00000076328 |
| mus_musculus | Osbpl11 | ENSMUSG00000022807 |
| rattus_norvegicus | Osbpl11 | ENSRNOG00000001782 |
| drosophila_melanogaster | CG3860 | FBGN0034951 |
| caenorhabditis_elegans | WBGENE00008832 |
Paralogs (11): OSBPL7 (ENSG00000006025), OSBPL5 (ENSG00000021762), OSBPL3 (ENSG00000070882), OSBPL6 (ENSG00000079156), OSBPL8 (ENSG00000091039), OSBP (ENSG00000110048), OSBPL9 (ENSG00000117859), OSBPL2 (ENSG00000130703), OSBPL1A (ENSG00000141447), OSBPL10 (ENSG00000144645), OSBP2 (ENSG00000184792)
Protein
Protein identifiers
Oxysterol-binding protein-related protein 11 — Q9BXB4 (reviewed: Q9BXB4)
All UniProt accessions (2): Q9BXB4, A0A140VJQ6
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage. Weakly binds 25-hydroxycholesterol. Interacts with OSBPL9 to function as lipid transfer proteins. Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex.
Subunit / interactions. Heterodimer with OSBPL9.
Subcellular location. Late endosome membrane. Golgi apparatus. trans-Golgi network membrane.
Tissue specificity. Present at highest levels in ovary, testis, kidney, liver, stomach, brain, and adipose tissue. Strong expression (at protein level) in epithelial cells of kidney tubules, testicular tubules, caecum, and skin. Present at low levels in subcutaneous and visceral adipose tissue (at protein level).
Domain organisation. The PH domain binds phosphoinositides.
Similarity. Belongs to the OSBP family.
RefSeq proteins (1): NP_073613* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000648 | Oxysterol-bd | Family |
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR018494 | Oxysterol-bd_CS | Conserved_site |
| IPR037239 | OSBP_sf | Homologous_superfamily |
Pfam: PF00169, PF01237
Catalyzed reactions (Rhea), 1 shown:
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)(out) + a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)(in) + a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:81667)
UniProt features (32 total): modified residue 10, strand 9, region of interest 3, sequence variant 2, turn 2, helix 2, compositionally biased region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2D9X | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXB4-F1 | 75.26 | 0.48 |
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 (10): 62, 172, 174, 177, 181, 184, 189, 1, 15, 27
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013407 | RHOH GTPase cycle |
MSigDB gene sets: 0 (showing top):
GO Biological Process (4): fat cell differentiation (GO:0045444), triglyceride homeostasis (GO:0070328), intermembrane lipid transfer (GO:0120009), lipid transport (GO:0006869)
GO Molecular Function (3): sterol binding (GO:0032934), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (7): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), late endosome membrane (GO:0031902), protein-containing complex (GO:0032991), endosome (GO:0005768)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| cell differentiation | 1 |
| acylglycerol homeostasis | 1 |
| lipid transport | 1 |
| membrane organization | 1 |
| transport | 1 |
| lipid localization | 1 |
| steroid binding | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| cellular_component | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1178 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OSBPL11 | PLEK2 | Q9NYT0 | 616 |
| OSBPL11 | PLEK | P08567 | 605 |
| OSBPL11 | OSBP | P22059 | 472 |
| OSBPL11 | OSBP2 | Q969R2 | 464 |
| OSBPL11 | NME6 | O75414 | 461 |
| OSBPL11 | VAPA | Q9P0L0 | 454 |
| OSBPL11 | LRRC30 | A6NM36 | 409 |
| OSBPL11 | PI4KB | P78405 | 397 |
| OSBPL11 | PLXNB1 | O43157 | 391 |
| OSBPL11 | LRRC20 | Q8TCA0 | 384 |
| OSBPL11 | DHX30 | Q7L2E3 | 368 |
| OSBPL11 | VAPB | O95292 | 367 |
| OSBPL11 | PTPN23 | Q9H3S7 | 365 |
| OSBPL11 | OSBPL3 | Q9H4L5 | 355 |
| OSBPL11 | OSBPL7 | Q9BZF2 | 354 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OSBPL9 | VAPB | psi-mi:“MI:0914”(association) | 0.790 |
| OSBPL9 | OSBPL11 | psi-mi:“MI:0915”(physical association) | 0.780 |
| OSBPL11 | OSBPL9 | psi-mi:“MI:0915”(physical association) | 0.780 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| OSBPL11 | VAPB | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| CFAP36 | SNTB2 | psi-mi:“MI:0914”(association) | 0.620 |
| RAB11A | CHML | psi-mi:“MI:2364”(proximity) | 0.610 |
| OSBPL11 | psi-mi:“MI:0407”(direct interaction) | 0.590 | |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| PLVAP | SMPD2 | psi-mi:“MI:0914”(association) | 0.530 |
| ALOX5 | DDHD2 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJA1 | HERC2 | psi-mi:“MI:0914”(association) | 0.530 |
| TPCN2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJA1 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (146): OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Reconstituted Complex), OSBPL11 (Proximity Label-MS), OSBPL11 (Proximity Label-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS)
ESM2 similar proteins: A0A075QQ08, A0A1D8EJF9, A0A1U8F5V2, A0A1U8GR65, A0A2J6L8Y7, A0A3Q7FGP1, A0A3Q7I7R4, A0A445AGS0, A7KWF8, C6ZJZ3, C7SG33, D3UW26, K0P2S0, M1J8U6, M1JJT8, O23252, O60573, O77210, O81481, O81482, P0DXI0, P0DXI5, P10687, P10894, P29557, P48598, P48599, P48600, Q03389, Q0GRC4, Q3UTA9, Q4QXS7, Q4VQY1, Q4VQY3, Q66UV4, Q66WU1, Q681Q7, Q8BMB3, Q8CI95, Q8K394
Diamond homologs: A0A2Z4HQ03, A2A8Z1, B9EJ86, O43021, O74178, O80866, P0C199, P35844, P38755, Q02201, Q0IJ05, Q54NM4, Q5M7Y0, Q5R6M6, Q5R9W4, Q6NRZ4, Q6P3Q6, Q6VVX2, Q86KG4, Q8BX94, Q8CI95, Q96SU4, Q9BXB4, Q9BXB5, Q9BZF1, Q9EQG9, Q9ER64, Q9GKI7, Q9H0X9, Q9H1P3, Q9UUA1, Q9UW21, Q9UW25, Q9Y5P4, S4R1M9, O94512, Q12451, Q54PS9, Q8S8P9, Q9SVZ9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1892 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:125531855:GCATA:G | donor_loss | 1.0000 |
| 3:125531856:CATAC:C | donor_loss | 1.0000 |
| 3:125531857:ATACC:A | donor_loss | 1.0000 |
| 3:125531860:C:G | donor_loss | 1.0000 |
| 3:125531860:CCT:C | donor_gain | 1.0000 |
| 3:125531862:T:TA | donor_gain | 1.0000 |
| 3:125531894:G:A | donor_gain | 1.0000 |
| 3:125532010:ATCGC:A | acceptor_gain | 1.0000 |
| 3:125532011:TCGC:T | acceptor_gain | 1.0000 |
| 3:125532012:CGC:C | acceptor_gain | 1.0000 |
| 3:125532012:CGCC:C | acceptor_gain | 1.0000 |
| 3:125532013:GC:G | acceptor_gain | 1.0000 |
| 3:125532013:GCC:G | acceptor_loss | 1.0000 |
| 3:125532014:CC:C | acceptor_gain | 1.0000 |
| 3:125532015:C:CC | acceptor_gain | 1.0000 |
| 3:125532016:T:G | acceptor_loss | 1.0000 |
| 3:125532023:C:CT | acceptor_gain | 1.0000 |
| 3:125532023:C:T | acceptor_gain | 1.0000 |
| 3:125532024:A:T | acceptor_gain | 1.0000 |
| 3:125538446:CATA:C | donor_loss | 1.0000 |
| 3:125538447:ATACC:A | donor_loss | 1.0000 |
| 3:125538448:TACC:T | donor_loss | 1.0000 |
| 3:125538449:ACCTG:A | donor_loss | 1.0000 |
| 3:125538450:C:CG | donor_loss | 1.0000 |
| 3:125538629:TAACC:T | acceptor_gain | 1.0000 |
| 3:125538631:ACC:A | acceptor_gain | 1.0000 |
| 3:125538632:CC:C | acceptor_gain | 1.0000 |
| 3:125538632:CCC:C | acceptor_gain | 1.0000 |
| 3:125538633:CC:C | acceptor_gain | 1.0000 |
| 3:125538634:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4915 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:125531948:C:A | K697N | 1.000 |
| 3:125531948:C:G | K697N | 1.000 |
| 3:125532007:A:G | W678R | 1.000 |
| 3:125532007:A:T | W678R | 1.000 |
| 3:125538570:C:A | W635C | 1.000 |
| 3:125538570:C:G | W635C | 1.000 |
| 3:125538572:A:G | W635R | 1.000 |
| 3:125538572:A:T | W635R | 1.000 |
| 3:125538577:C:T | G633E | 1.000 |
| 3:125538578:C:G | G633R | 1.000 |
| 3:125538578:C:T | G633R | 1.000 |
| 3:125538631:A:T | V615D | 1.000 |
| 3:125547442:A:G | F602S | 1.000 |
| 3:125547520:A:G | L576S | 1.000 |
| 3:125547523:A:G | I575T | 1.000 |
| 3:125547523:A:T | I575N | 1.000 |
| 3:125547527:A:G | S574P | 1.000 |
| 3:125547529:C:G | R573P | 1.000 |
| 3:125547532:G:T | A572D | 1.000 |
| 3:125547544:G:T | P568H | 1.000 |
| 3:125552208:A:G | S543P | 1.000 |
| 3:125552213:C:T | G541D | 1.000 |
| 3:125552214:C:G | G541R | 1.000 |
| 3:125552218:G:C | F539L | 1.000 |
| 3:125552218:G:T | F539L | 1.000 |
| 3:125552219:A:C | F539C | 1.000 |
| 3:125552219:A:G | F539S | 1.000 |
| 3:125552220:A:G | F539L | 1.000 |
| 3:125552485:A:C | N450K | 1.000 |
| 3:125552485:A:T | N450K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000132680 (3:125584971 G>A,C,T), RS1000157621 (3:125544740 G>C), RS1000169369 (3:125541182 G>A,C), RS1000182866 (3:125566476 C>T), RS1000185471 (3:125585138 T>A), RS1000294875 (3:125533769 C>T), RS1000330558 (3:125530317 T>C), RS1000339534 (3:125578696 G>A), RS1000392409 (3:125567351 G>A,T), RS1000403399 (3:125576462 C>A,T), RS1000446340 (3:125564586 G>C), RS1000447201 (3:125572856 T>C), RS1000472331 (3:125583575 C>G,T), RS1000492834 (3:125543128 T>TA), RS1000521289 (3:125583762 T>C)
Disease associations
OMIM: gene MIM:606739 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, increases expression | 2 |
| Progesterone | affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arbutin | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Iron | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.