OSBPL10
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Summary
OSBPL10 (oxysterol binding protein like 10, HGNC:16395) is a protein-coding gene on chromosome 3p23, encoding Oxysterol-binding protein-related protein 10 (Q9BXB5). Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane.
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. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 114884 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 214 total
- MANE Select transcript:
NM_017784
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16395 |
| Approved symbol | OSBPL10 |
| Name | oxysterol binding protein like 10 |
| Location | 3p23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000144645 |
| Ensembl biotype | protein_coding |
| OMIM | 606738 |
| Entrez | 114884 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 12 protein_coding_CDS_not_defined, 10 protein_coding, 2 retained_intron
ENST00000396556, ENST00000428241, ENST00000429492, ENST00000438237, ENST00000452791, ENST00000463504, ENST00000465626, ENST00000466604, ENST00000467598, ENST00000467647, ENST00000467955, ENST00000469557, ENST00000472175, ENST00000479173, ENST00000479396, ENST00000480671, ENST00000485205, ENST00000490009, ENST00000673388, ENST00000698199, ENST00000911815, ENST00000911816, ENST00000959571, ENST00000959572
RefSeq mRNA: 2 — MANE Select: NM_017784
NM_001174060, NM_017784
CCDS: CCDS2651, CCDS54559
Canonical transcript exons
ENST00000396556 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001525446 | 31660825 | 31662116 |
| ENSE00001525447 | 31980899 | 31981262 |
| ENSE00001724748 | 31683634 | 31684114 |
| ENSE00001737189 | 31664079 | 31664232 |
| ENSE00001746442 | 31668642 | 31668824 |
| ENSE00001759198 | 31670797 | 31670983 |
| ENSE00003498172 | 31702359 | 31702508 |
| ENSE00003500607 | 31876433 | 31876512 |
| ENSE00003525332 | 31747910 | 31748120 |
| ENSE00003579736 | 31830040 | 31830231 |
| ENSE00003581525 | 31879655 | 31879830 |
| ENSE00003791179 | 31733257 | 31733411 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 97.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2551 / max 176.4356, expressed in 1385 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41585 | 5.6016 | 1321 |
| 41590 | 1.6333 | 562 |
| 41588 | 0.2994 | 122 |
| 41586 | 0.1704 | 84 |
| 41589 | 0.1582 | 80 |
| 41583 | 0.1491 | 55 |
| 41587 | 0.1335 | 67 |
| 41581 | 0.0319 | 8 |
| 41582 | 0.0270 | 6 |
| 41578 | 0.0190 | 3 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.19 | gold quality |
| oocyte | CL:0000023 | 96.99 | gold quality |
| right testis | UBERON:0004534 | 95.06 | gold quality |
| left testis | UBERON:0004533 | 95.00 | gold quality |
| saphenous vein | UBERON:0007318 | 94.65 | gold quality |
| decidua | UBERON:0002450 | 94.41 | gold quality |
| testis | UBERON:0000473 | 93.24 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.83 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.29 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.15 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.39 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 91.37 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.31 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 91.29 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.13 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.91 | gold quality |
| urinary bladder | UBERON:0001255 | 90.90 | gold quality |
| nephron tubule | UBERON:0001231 | 90.55 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.52 | gold quality |
| renal glomerulus | UBERON:0000074 | 90.46 | gold quality |
| placenta | UBERON:0001987 | 90.44 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.25 | gold quality |
| hair follicle | UBERON:0002073 | 89.79 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.27 | gold quality |
| tonsil | UBERON:0002372 | 88.93 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.28 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.59 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.48 | gold quality |
| urethra | UBERON:0000057 | 87.41 | gold quality |
| gingiva | UBERON:0001828 | 87.41 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 29.00 |
| E-ANND-3 | yes | 9.42 |
| E-ENAD-27 | yes | 4.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
131 targeting OSBPL10, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 6)
- Analysis of variants in three genes encoding OSBP homologues in families with familial low high-density lipoprotein levels or familial combined hyperlipidemia revealed linkage of OSBPL10 single-nucleotide polymorphisms with high triglyceride trait. (PMID:19554302)
- Overall, the rs2290532 (D254N) polymorphism in OSBPL10 may predispose individuals to hyper-LDL cholesterolemia. (PMID:20224571)
- Single-nucleotide polymorphisms in OSBPL10 is associated with peripheral arterial disease. (PMID:20610895)
- Data indicate that the apoB-100 secretion phenotype is replicated in HepG2 cells transduced with the ORP10 shRNA lentiviruses. (PMID:22906437)
- findings reveal that circOSBPL10 may serve as a new proliferation factor and prognostic marker in gastric cancer (PMID:31409903)
- PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission. (PMID:34817532)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | osbpl10b | ENSDARG00000040027 |
| danio_rerio | ENSDARG00000099747 | |
| mus_musculus | Osbpl10 | ENSMUSG00000040875 |
| rattus_norvegicus | Osbpl10 | ENSRNOG00000011435 |
| 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), OSBPL11 (ENSG00000144909), OSBP2 (ENSG00000184792)
Protein
Protein identifiers
Oxysterol-binding protein-related protein 10 — Q9BXB5 (reviewed: Q9BXB5)
All UniProt accessions (5): Q9BXB5, A0A5F9ZH75, A0A8V8TM06, H7C199, H7C487
UniProt curated annotations — full annotation on UniProt →
Function. Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P. Plays a role in negative regulation of lipid biosynthesis. Negatively regulates APOB secretion from hepatocytes. Binds cholesterol and acidic phospholipids. Also binds 25-hydroxycholesterol. Binds phosphatidylserine.
Subunit / interactions. Interacts with OSBPL9. Interacts with DIAPH1.
Subcellular location. Cytoplasm. Cytoskeleton.
Domain organisation. The C-terminal region binds cholesterol, 25-hydroxysterol and acidic phospholipids and is required for localization to microtubules. The PH domain selectively interacts with phosphatidylinositol-4-phosphate.
Polymorphism. Polymorphisms are associated with dyslipidemia. Variant Asn-254 is associated with LDL-cholesterol levels in Japanese population. Association with peripheral arterial disease has also been observed.
Similarity. Belongs to the OSBP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXB5-1 | 1 | yes |
| Q9BXB5-2 | 2 |
RefSeq proteins (2): NP_001167531, NP_060254* (*=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 |
| IPR041680 | PH_8 | Domain |
Pfam: PF01237, PF15409
UniProt features (33 total): modified residue 10, binding site 9, compositionally biased region 5, region of interest 4, chain 1, domain 1, splice variant 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXB5-F1 | 75.03 | 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.
Ligand- & substrate-binding residues (9): 413–418; 413–418; 477–480; 480; 535–536; 561; 721; 725; 729
Post-translational modifications (10): 29, 30, 38, 57, 60, 64, 196, 201, 209, 223
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1482801 | Acyl chain remodelling of PS |
MSigDB gene sets: 186 (showing top):
GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, SHEPARD_BMYB_MORPHOLINO_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, TTTGTAG_MIR520D, MODULE_511, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MODULE_453, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS
GO Biological Process (5): phosphatidylserine acyl-chain remodeling (GO:0036150), intermembrane lipid transfer (GO:0120009), lipid metabolic process (GO:0006629), lipid transport (GO:0006869), phospholipid transport (GO:0015914)
GO Molecular Function (6): phosphatidylserine binding (GO:0001786), obsolete phospholipid transporter activity (GO:0005548), cholesterol binding (GO:0015485), lipid carrier activity (GO:0005319), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (5): cytosol (GO:0005829), cytoskeleton (GO:0005856), membrane (GO:0016020), transporter complex (GO:1990351), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| lipid transport | 2 |
| binding | 2 |
| phosphatidylserine metabolic process | 1 |
| membrane organization | 1 |
| primary metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| organophosphate ester transport | 1 |
| phospholipid binding | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| sterol binding | 1 |
| alcohol binding | 1 |
| molecular carrier activity | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OSBPL10 | PLEK2 | Q9NYT0 | 615 |
| OSBPL10 | PLEK | P08567 | 603 |
| OSBPL10 | APOB | P04114 | 528 |
| OSBPL10 | ZNF860 | A6NHJ4 | 507 |
| OSBPL10 | NIBAN1 | Q9BZQ8 | 479 |
| OSBPL10 | RXRA | P19793 | 478 |
| OSBPL10 | OSBP | P22059 | 473 |
| OSBPL10 | OSBP2 | Q969R2 | 459 |
| OSBPL10 | PIK3AP1 | Q6ZUJ8 | 430 |
| OSBPL10 | OGDHL | Q9ULD0 | 427 |
| OSBPL10 | ACTC1 | P04270 | 415 |
| OSBPL10 | VAPA | Q9P0L0 | 402 |
| OSBPL10 | ANKRD22 | Q5VYY1 | 392 |
| OSBPL10 | STT3B | Q8TCJ2 | 390 |
| OSBPL10 | GADL1 | Q6ZQY3 | 386 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OSBPL9 | VAPB | psi-mi:“MI:0914”(association) | 0.790 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| OSBPL11 | VAPB | psi-mi:“MI:0914”(association) | 0.730 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| OSBPL10 | OSBPL9 | psi-mi:“MI:0915”(physical association) | 0.630 |
| OSBPL10 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| OSBPL10 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| PCNT | OSBPL10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OSBPL10 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| IKBKG | OSBPL10 | psi-mi:“MI:0915”(physical association) | 0.370 |
| VAPA | psi-mi:“MI:0914”(association) | 0.350 | |
| Tgs1 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (77): OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Affinity Capture-RNA), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS)
ESM2 similar proteins: A2AHJ4, A4IID4, A9JRL3, A9X1A0, B0KWC1, B1MTG7, B2KI64, B2RQE8, B3EX61, B4UT09, G5EBH0, O00418, O00763, O02697, O02810, O08561, O08796, O08874, P25455, P48736, P70531, Q07139, Q28C33, Q49GP3, Q4U2V3, Q5R585, Q641K1, Q6DD21, Q6F6B3, Q6GN16, Q6NRE7, Q6PCL9, Q80X66, Q86X55, Q8BKC8, Q8BPM2, Q8CI95, Q8IVH8, Q924I2, Q99JP0
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
Cancer significance
Clinical variants and AI predictions
ClinVar
214 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 179 |
| Likely benign | 14 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4421 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:31664074:GTTA:G | donor_loss | 1.0000 |
| 3:31664075:TTAC:T | donor_loss | 1.0000 |
| 3:31664076:TACCT:T | donor_loss | 1.0000 |
| 3:31664077:A:T | donor_loss | 1.0000 |
| 3:31664077:ACCT:A | donor_gain | 1.0000 |
| 3:31664078:C:G | donor_loss | 1.0000 |
| 3:31664078:CCTC:C | donor_gain | 1.0000 |
| 3:31664080:T:TA | donor_gain | 1.0000 |
| 3:31664102:T:TA | donor_gain | 1.0000 |
| 3:31664103:C:A | donor_gain | 1.0000 |
| 3:31664129:T:TA | donor_gain | 1.0000 |
| 3:31664228:GGTTC:G | acceptor_gain | 1.0000 |
| 3:31664229:GTTCC:G | acceptor_loss | 1.0000 |
| 3:31664230:TTC:T | acceptor_gain | 1.0000 |
| 3:31664230:TTCCT:T | acceptor_loss | 1.0000 |
| 3:31664231:TC:T | acceptor_gain | 1.0000 |
| 3:31664231:TCC:T | acceptor_loss | 1.0000 |
| 3:31664232:CC:C | acceptor_gain | 1.0000 |
| 3:31664232:CCTGG:C | acceptor_loss | 1.0000 |
| 3:31664233:C:A | acceptor_loss | 1.0000 |
| 3:31664233:C:CC | acceptor_gain | 1.0000 |
| 3:31664234:T:A | acceptor_loss | 1.0000 |
| 3:31664239:A:AC | acceptor_gain | 1.0000 |
| 3:31664239:A:C | acceptor_gain | 1.0000 |
| 3:31664242:C:CT | acceptor_gain | 1.0000 |
| 3:31664243:G:C | acceptor_gain | 1.0000 |
| 3:31670987:C:CT | acceptor_gain | 1.0000 |
| 3:31670987:C:T | acceptor_gain | 1.0000 |
| 3:31670988:A:T | acceptor_gain | 1.0000 |
| 3:31702354:CCTA:C | donor_loss | 1.0000 |
AlphaMissense
4994 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:31664166:C:A | K721N | 1.000 |
| 3:31664166:C:G | K721N | 1.000 |
| 3:31668763:A:G | W659R | 1.000 |
| 3:31668763:A:T | W659R | 1.000 |
| 3:31668822:A:T | V639D | 1.000 |
| 3:31670920:C:G | R597P | 1.000 |
| 3:31683672:A:G | F563S | 1.000 |
| 3:31702366:A:G | L413S | 1.000 |
| 3:31702384:A:G | L407P | 1.000 |
| 3:31980899:C:A | R94M | 1.000 |
| 3:31980909:A:G | W91R | 1.000 |
| 3:31980909:A:T | W91R | 1.000 |
| 3:31664179:G:T | A717D | 0.999 |
| 3:31664203:A:G | L709P | 0.999 |
| 3:31664223:C:A | W702C | 0.999 |
| 3:31664223:C:G | W702C | 0.999 |
| 3:31664225:A:G | W702R | 0.999 |
| 3:31664225:A:T | W702R | 0.999 |
| 3:31668645:G:A | S698F | 0.999 |
| 3:31668761:C:A | W659C | 0.999 |
| 3:31668761:C:G | W659C | 0.999 |
| 3:31668762:C:G | W659S | 0.999 |
| 3:31668768:C:T | G657E | 0.999 |
| 3:31668817:C:G | A641P | 0.999 |
| 3:31670833:A:G | F626S | 0.999 |
| 3:31670914:A:G | I599T | 0.999 |
| 3:31670914:A:T | I599N | 0.999 |
| 3:31670918:A:G | S598P | 0.999 |
| 3:31670923:G:T | A596D | 0.999 |
| 3:31670929:G:T | A594D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003050 (3:32065775 G>T), RS1000028738 (3:32045909 G>T), RS1000035986 (3:32000455 A>G), RS1000036916 (3:31834429 C>T), RS1000060348 (3:32008690 C>A,T), RS1000061168 (3:31942154 A>G), RS1000062644 (3:31759176 T>C), RS1000078867 (3:31912118 G>A,C), RS1000091764 (3:31759454 T>C), RS1000097830 (3:31928941 T>C), RS1000123592 (3:31951699 T>C), RS1000124234 (3:31688728 C>A), RS1000128097 (3:32024415 T>C), RS1000138677 (3:31854218 G>C), RS1000140196 (3:31834942 T>A)
Disease associations
OMIM: gene MIM:606738 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000720_2 | Peripheral artery disease | 5.000000e-07 |
| GCST002312_8 | Periodontal disease-related phenotype (Socransky) | 6.000000e-06 |
| GCST009364_27 | Triglyceride levels x long total sleep time interaction (2df test) | 8.000000e-10 |
| GCST012174_1 | Diabetic retinopathy in type 2 diabetes | 7.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 9 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Cisplatin | affects expression, decreases expression | 2 |
| Doxorubicin | decreases expression, affects response to substance | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| ferrous chloride | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
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): diabetic retinopathy, periodontitis, peripheral arterial disease