OSBPL5

Summary

OSBPL5 (oxysterol binding protein like 5, HGNC:16392) is a protein-coding gene on chromosome 11p15.4, encoding Oxysterol-binding protein-related protein 5 (Q9H0X9). Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, whic….

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 114879 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 196 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_020896

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16392
Approved symbol	OSBPL5
Name	oxysterol binding protein like 5
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1534, ORP5, OBPH1
Ensembl gene	ENSG00000021762
Ensembl biotype	protein_coding
OMIM	606733
Entrez	114879

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 17 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000263650, ENST00000348039, ENST00000389989, ENST00000459995, ENST00000465323, ENST00000471998, ENST00000477622, ENST00000478260, ENST00000498536, ENST00000525498, ENST00000526122, ENST00000528124, ENST00000530372, ENST00000532951, ENST00000533234, ENST00000533721, ENST00000534157, ENST00000534454, ENST00000534491, ENST00000866647, ENST00000866648, ENST00000866649, ENST00000866650, ENST00000965672, ENST00000965673

RefSeq mRNA: 3 — MANE Select: NM_020896 NM_001144063, NM_020896, NM_145638

CCDS: CCDS31343, CCDS31344

Canonical transcript exons

ENST00000263650 — 22 exons

Exon	Start	End
ENSE00002158273	3165216	3165310
ENSE00003470772	3092432	3092558
ENSE00003484196	3120421	3120624
ENSE00003506163	3094237	3094334
ENSE00003506561	3089846	3089948
ENSE00003555977	3121997	3122098
ENSE00003558770	3122348	3122428
ENSE00003560677	3104193	3104377
ENSE00003581805	3103239	3103320
ENSE00003586682	3093527	3093663
ENSE00003606326	3107263	3107455
ENSE00003611416	3102183	3102281
ENSE00003613904	3107771	3107945
ENSE00003625805	3126473	3126555
ENSE00003629732	3093746	3093835
ENSE00003653760	3119547	3119631
ENSE00003655032	3100158	3100256
ENSE00003663340	3101603	3101699
ENSE00003676014	3090558	3090696
ENSE00003679977	3129013	3129169
ENSE00003682315	3092867	3093052
ENSE00003848148	3087107	3088343

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 96.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.6662 / max 708.6725, expressed in 1738 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118280	11.6987	1695
118276	2.3941	187
118281	1.6391	1046
118277	1.0912	134
118282	0.4898	256
118278	0.2630	34
118275	0.0802	11
206163	0.0101	4

Top tissues by expression

260 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	96.75	gold quality
tendon of biceps brachii	UBERON:0008188	96.38	gold quality
endocervix	UBERON:0000458	96.30	gold quality
granulocyte	CL:0000094	96.28	gold quality
sural nerve	UBERON:0015488	95.92	gold quality
ectocervix	UBERON:0012249	93.88	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.68	gold quality
lower esophagus	UBERON:0013473	93.66	gold quality
nerve	UBERON:0001021	93.63	gold quality
tibial nerve	UBERON:0001323	93.63	gold quality
popliteal artery	UBERON:0002250	93.34	gold quality
tibial artery	UBERON:0007610	93.33	gold quality
thoracic aorta	UBERON:0001515	93.26	gold quality
aorta	UBERON:0000947	93.22	gold quality
ascending aorta	UBERON:0001496	93.20	gold quality
descending thoracic aorta	UBERON:0002345	93.20	gold quality
uterine cervix	UBERON:0000002	93.12	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.99	gold quality
body of uterus	UBERON:0009853	92.73	gold quality
skin of leg	UBERON:0001511	92.57	gold quality
stromal cell of endometrium	CL:0002255	92.47	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.40	gold quality
colonic epithelium	UBERON:0000397	92.21	gold quality
upper arm skin	UBERON:0004263	92.14	gold quality
left uterine tube	UBERON:0001303	91.92	gold quality
skin of abdomen	UBERON:0001416	91.90	gold quality
vagina	UBERON:0000996	91.70	gold quality
right coronary artery	UBERON:0001625	91.69	gold quality
spleen	UBERON:0002106	91.43	gold quality
cortical plate	UBERON:0005343	91.20	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting OSBPL5, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4447	99.85	67.81	2900

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 13)

• OBPH1/Obph1 gene is imprinted, with preferential expression from the maternal allele in human and mouse. (PMID:12504849)
• OSBPL5 is relatd to invasion and poor prognosis in pancreatic cancer. (PMID:19032366)
• Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells. (PMID:20644730)
• ORP5 may cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes. (PMID:21220512)
• Results show that OSBPL5 and CALU were expressed at higher levels in the lung tissues of metastasis-positive cases than that in the metastasis-negative cases suggesting they can promote invasiveness of lung cancer cells. (PMID:25963840)
• ORP5 and ORP8 could mediate PI4P/phosphatidylserine (PS) countertransport between the endoplasmic reticulum (ER) and the plasma membrane (PM), thus delivering PI4P to the ER-localized PI4P phosphatase Sac1 for degradation and PS from the ER to the PM. (PMID:26206935)
• mammalian ORP5 and ORP8 proteins localize to ER-mitochondrial MCS, in addition to ER-PM contact sites. (PMID:27113756)
• ORP5/8 are endoplasmic reticulum (ER) membrane proteins implicated in lipid trafficking that localize to ER-plasma membrane (PM) contacts and maintain membrane homeostasis. Here the authors show that PtdIns(4,5)P 2 plays a critical role in the targeting and function of ORP5/8 at the PM. (PMID:28970484)
• Data suggest that ORP5/OSBPL5 promotes cell proliferation, cell motility, and invasiveness of neoplasm cells; this effect of ORP5/OSBPL5 depends on functional OSBP-related domain (ORD). ORP5/OSBPL5 is needed for activation of mTORC1 signaling and for transport of mTOR to lysosomes. (mTORC1 = mechanistic target of rapamycin complex-1; mTOR = mechanistic target of rapamycin) (PMID:29358326)
• ORP5/8 recruitment to the plasma membrane occurs through interactions with the N-terminal Pleckstrin homology domains and adjacent basic residues of ORP5/8 with both phosphatidylinositol 4-phosphate and Phosphatidylinositol 4,5-bisphosphate. (PMID:29472386)
• ORP5/8 regulate Ca(2+) signaling at specific membrane contact sites foci. (PMID:29748134)
• ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites? (PMID:32570981)
• ORP5 promotes migration and invasion of cervical cancer cells by inhibiting endoplasmic reticulum stress. (PMID:37314629)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	osbpl5	ENSDARG00000076002
mus_musculus	Osbpl5	ENSMUSG00000037606
rattus_norvegicus	Osbpl5	ENSRNOG00000020713
drosophila_melanogaster	Orp8	FBGN0261550
caenorhabditis_elegans		WBGENE00014215

Paralogs (11): OSBPL7 (ENSG00000006025), OSBPL3 (ENSG00000070882), OSBPL6 (ENSG00000079156), OSBPL8 (ENSG00000091039), OSBP (ENSG00000110048), OSBPL9 (ENSG00000117859), OSBPL2 (ENSG00000130703), OSBPL1A (ENSG00000141447), OSBPL10 (ENSG00000144645), OSBPL11 (ENSG00000144909), OSBP2 (ENSG00000184792)

Protein

Protein identifiers

Oxysterol-binding protein-related protein 5 — Q9H0X9 (reviewed: Q9H0X9)

Alternative names: Oxysterol-binding protein homolog 1

All UniProt accessions (9): E9PIJ6, E9PJE6, E9PLN3, E9PNH0, E9PPQ2, E9PQB4, E9PRA9, H0YCD7, Q9H0X9

UniProt curated annotations — full annotation on UniProt →

Function. Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner. May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes. Binds 25-hydroxycholesterol and cholesterol.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitously expressed.

Miscellaneous. According to a report, the gene is imprinted in placenta, where it is predominantly expressed from the maternal allele only. Not imprinted in other tissues. According to another report, it is not imprinted in trophoblast stem cells.

Similarity. Belongs to the OSBP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H0X9-1	1	yes
Q9H0X9-2	2
Q9H0X9-3	3

RefSeq proteins (3): NP_001137535, NP_065947, NP_663613 (=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

UniProt features (29 total): binding site 9, compositionally biased region 4, splice variant 3, region of interest 3, modified residue 2, sequence variant 2, mutagenesis site 2, chain 1, transmembrane region 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0X9-F1	71.57	0.38

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): 384–389; 384–389; 446–449; 449; 478–479; 504; 670; 674; 678

Post-translational modifications (2): 12, 747

Mutagenesis-validated functional residues (2):

Position	Phenotype
389	impaired lipid countertransport between the endoplasmic reticulum and the plasma membrane.
478–479	impaired lipid countertransport between the endoplasmic reticulum and the plasma membrane.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1482801	Acyl chain remodelling of PS

MSigDB gene sets: 171 (showing top): GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, LE_EGR2_TARGETS_DN, GOBP_STEROL_TRANSPORT, CUI_TCF21_TARGETS_2_DN

GO Biological Process (7): Golgi to plasma membrane transport (GO:0006893), cholesterol metabolic process (GO:0008203), phospholipid transport (GO:0015914), cholesterol transport (GO:0030301), phosphatidylserine acyl-chain remodeling (GO:0036150), lipid transport (GO:0006869), intermembrane lipid transfer (GO:0120009)

GO Molecular Function (7): phosphatidylserine binding (GO:0001786), obsolete phospholipid transporter activity (GO:0005548), oxysterol binding (GO:0008142), cholesterol binding (GO:0015485), phosphatidylinositol-4-phosphate binding (GO:0070273), phosphatidylserine transfer activity (GO:0140343), lipid binding (GO:0008289)

GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020), endoplasmic reticulum-plasma membrane contact site (GO:0140268), endoplasmic reticulum (GO:0005783)

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
lipid transport	2
anion binding	2
sterol binding	2
cytoplasm	2
cellular anatomical structure	2
post-Golgi vesicle-mediated transport	1
vesicle-mediated transport to the plasma membrane	1
sterol metabolic process	1
secondary alcohol metabolic process	1
organophosphate ester transport	1
sterol transport	1
phosphatidylserine metabolic process	1
transport	1
lipid localization	1
membrane organization	1
phospholipid binding	1
modified amino acid binding	1
alcohol binding	1
phosphatidylinositol phosphate binding	1
phospholipid transfer activity	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
organelle membrane contact site	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSBPL5	RMDN3	Q96TC7	991
OSBPL5	NPC1	O15118	990
OSBPL5	VAPA	Q9P0L0	760
OSBPL5	STARD3	Q14849	733
OSBPL5	PLEK2	Q9NYT0	732
OSBPL5	PLEK	P08567	724
OSBPL5	PHLDA2	Q53GA4	723
OSBPL5	SLC67A1	Q96BI1	711
OSBPL5	TSSC4	Q9Y5U2	702
OSBPL5	ZFYVE27	Q5T4F4	639
OSBPL5	VAPB	O95292	624
OSBPL5	VDAC1	P21796	601
OSBPL5	NAP1L4	Q99733	597
OSBPL5	PDZD8	Q8NEN9	583
OSBPL5	PITPNM1	O00562	580

IntAct

52 interactions, top by confidence:

A	B	Type	Score
YWHAH	FAM83G	psi-mi:“MI:0914”(association)	0.710
LRIF1	SMCHD1	psi-mi:“MI:0914”(association)	0.680
OSBPL5	NAGLU	psi-mi:“MI:0914”(association)	0.640
OSBPL8	CSNK2A2	psi-mi:“MI:0914”(association)	0.640
SDC2	PDPK1	psi-mi:“MI:0914”(association)	0.640
P2RY1	SLC19A2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
SLC30A4	OPA1	psi-mi:“MI:0914”(association)	0.530
ABL1	OSBPL5	psi-mi:“MI:0915”(physical association)	0.400
KIFC3	MAP3K3	psi-mi:“MI:0914”(association)	0.350
KLC4	PUF60	psi-mi:“MI:0914”(association)	0.350
Cd2ap		psi-mi:“MI:0914”(association)	0.350
RIOK3	SUPT6H	psi-mi:“MI:0914”(association)	0.350
IPO8	BIN1	psi-mi:“MI:0914”(association)	0.350
Samm50	ZC3H18	psi-mi:“MI:0914”(association)	0.350
LIMK1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
Sesn2	CASTOR2	psi-mi:“MI:0914”(association)	0.350
MAGEA1	KIF1B	psi-mi:“MI:0914”(association)	0.350
CDC23	VWA8	psi-mi:“MI:0914”(association)	0.350
Mus81	KIF1B	psi-mi:“MI:0914”(association)	0.350
ZNF281	KIF21B	psi-mi:“MI:0914”(association)	0.350
NP	KPNA4	psi-mi:“MI:0914”(association)	0.350
NP	IPO5	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
AKAP8L	SUPT5H	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), OSBPL5 (Affinity Capture-MS), PRR11 (Affinity Capture-MS)

ESM2 similar proteins: A2VDW6, A4D2P6, A8VU90, B0BNK9, E9PY61, F1LQY6, O94810, O95382, Q05AA6, Q0QWG9, Q13474, Q2TBQ9, Q3KR56, Q3UFQ8, Q3UR97, Q3V3V9, Q5FVC2, Q5R8E2, Q5XHY1, Q60875, Q61085, Q6F5E8, Q6P597, Q6P5Z2, Q6PRD1, Q6V7V2, Q80XL1, Q80ZJ8, Q865S3, Q86UD0, Q8C6B2, Q8K031, Q8K045, Q8N4Y2, Q8ND23, Q91W40, Q91ZP9, Q92502, Q92974, Q969H4

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

196 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	154
Likely benign	14
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

4710 predictions. Top by Δscore:

Variant	Effect	Δscore
11:3089960:CCGAG:C	acceptor_gain	1.0000
11:3089961:C:T	acceptor_gain	1.0000
11:3089961:CGAG:C	acceptor_gain	1.0000
11:3089962:G:T	acceptor_gain	1.0000
11:3090553:CTCA:C	donor_loss	1.0000
11:3090554:TCA:T	donor_loss	1.0000
11:3090555:CAC:C	donor_loss	1.0000
11:3090556:ACCAG:A	donor_loss	1.0000
11:3090557:C:T	donor_loss	1.0000
11:3090575:T:TA	donor_gain	1.0000
11:3090692:GACCT:G	acceptor_gain	1.0000
11:3090693:ACCT:A	acceptor_gain	1.0000
11:3090694:CCTC:C	acceptor_gain	1.0000
11:3090695:CT:C	acceptor_gain	1.0000
11:3090697:C:CC	acceptor_gain	1.0000
11:3090697:CTGCA:C	acceptor_loss	1.0000
11:3092428:TGA:T	donor_loss	1.0000
11:3092430:ACCTC:A	donor_loss	1.0000
11:3092431:CCTCG:C	donor_loss	1.0000
11:3092484:T:TA	donor_gain	1.0000
11:3092554:TGTGG:T	acceptor_gain	1.0000
11:3092556:TGG:T	acceptor_gain	1.0000
11:3092557:GG:G	acceptor_gain	1.0000
11:3092558:GC:G	acceptor_loss	1.0000
11:3092559:C:CA	acceptor_loss	1.0000
11:3092559:C:CC	acceptor_gain	1.0000
11:3092865:A:AC	donor_gain	1.0000
11:3092865:ACT:A	donor_gain	1.0000
11:3092866:C:CC	donor_gain	1.0000
11:3092866:CT:C	donor_gain	1.0000

AlphaMissense

5713 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:3119567:C:A	R224M	1.000
11:3119567:C:G	R224T	1.000
11:3119573:A:T	I222N	1.000
11:3120460:C:A	K189N	1.000
11:3120460:C:G	K189N	1.000
11:3120464:A:G	F188S	1.000
11:3120534:A:G	W165R	1.000
11:3120534:A:T	W165R	1.000
11:3120601:C:A	W142C	1.000
11:3120601:C:G	W142C	1.000
11:3120603:A:G	W142R	1.000
11:3120603:A:T	W142R	1.000
11:3107937:A:G	W234R	0.999
11:3107937:A:T	W234R	0.999
11:3107945:C:T	G231D	0.999
11:3119566:C:A	R224S	0.999
11:3119566:C:G	R224S	0.999
11:3119568:T:C	R224G	0.999
11:3119573:A:C	I222S	0.999
11:3119573:A:G	I222T	0.999
11:3119576:A:G	L221P	0.999
11:3119631:C:G	G203R	0.999
11:3120432:A:G	W199R	0.999
11:3120432:A:T	W199R	0.999
11:3120458:A:G	L190P	0.999
11:3120462:T:C	K189E	0.999
11:3120466:G:C	C187W	0.999
11:3120467:C:T	C187Y	0.999
11:3120468:A:G	C187R	0.999
11:3120469:G:C	F186L	0.999

dbSNP variants (sampled 300 via entrez): RS1000003135 (11:3146791 G>A), RS1000013878 (11:3104748 C>T), RS1000031216 (11:3136707 G>A), RS1000047174 (11:3121195 T>A,C), RS1000099378 (11:3137848 T>C), RS1000156526 (11:3150169 G>A), RS1000172870 (11:3111140 C>G), RS1000175203 (11:3145953 C>G), RS1000206118 (11:3086702 G>A,T), RS1000269626 (11:3121990 C>T), RS1000273262 (11:3123525 C>T), RS1000274312 (11:3091149 G>A,C,T), RS1000276490 (11:3106242 C>T), RS1000283602 (11:3150027 C>T), RS1000319358 (11:3114132 A>G,T)

Disease associations

OMIM: gene MIM:606733 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST003898_15	Cisplatin-induced ototoxicity	8.000000e-06
GCST008467_16	Aspartate aminotransferase levels in non-alcoholic fatty liver disease	2.000000e-07
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST011706_2	Cerebral microbleeds (lobar)	3.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006951	ototoxicity
EFO:0004736	aspartate aminotransferase measurement
EFO:0010059	cerebral microbleeds

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	2
Acrolein	increases oxidation, increases abundance, affects cotreatment	2
Air Pollutants	increases oxidation, decreases expression, affects cotreatment, increases abundance	2
Arsenic	affects expression, affects methylation	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Estradiol	affects binding, increases expression, affects cotreatment, decreases expression	2
Ozone	increases oxidation, increases abundance, affects cotreatment	2
Tretinoin	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
bisphenol A	decreases methylation	1
butyraldehyde	decreases expression	1
nickel sulfate	increases expression	1
perfluorodecanoic acid	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1ZJ	Abcam HeLa OSBPL5 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.