OSBPL7

Summary

OSBPL7 (oxysterol binding protein like 7, HGNC:16387) is a protein-coding gene on chromosome 17q21.32, encoding Oxysterol-binding protein-related protein 7 (Q9BZF2).

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. Two transcript variants encoding the same isoform have been identified.

Source: NCBI Gene 114881 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 128 total
• MANE Select transcript: NM_145798

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16387
Approved symbol	OSBPL7
Name	oxysterol binding protein like 7
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Aliases	ORP7, MGC71150
Ensembl gene	ENSG00000006025
Ensembl biotype	protein_coding
OMIM	606735
Entrez	114881

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 6 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay

ENST00000007414, ENST00000578461, ENST00000579728, ENST00000580140, ENST00000580226, ENST00000580808, ENST00000583167, ENST00000584698, ENST00000585051, ENST00000613735, ENST00000853972, ENST00000853973, ENST00000853974, ENST00000915866, ENST00000942055

RefSeq mRNA: 1 — MANE Select: NM_145798 NM_145798

CCDS: CCDS11515

Canonical transcript exons

ENST00000007414 — 23 exons

Exon	Start	End
ENSE00000735431	47816388	47816482
ENSE00000735452	47816107	47816202
ENSE00000735458	47815215	47815352
ENSE00000735462	47814521	47814614
ENSE00002702628	47807372	47808399
ENSE00002725432	47821666	47821794
ENSE00003470922	47810772	47810835
ENSE00003510078	47813266	47813403
ENSE00003513843	47816563	47816695
ENSE00003519210	47810594	47810672
ENSE00003526797	47816780	47816872
ENSE00003534393	47818986	47819099
ENSE00003547870	47813587	47813834
ENSE00003550163	47819729	47819782
ENSE00003576679	47808864	47808990
ENSE00003577556	47818506	47818616
ENSE00003580380	47809076	47809220
ENSE00003597467	47820204	47820365
ENSE00003602131	47809334	47809478
ENSE00003617158	47817256	47817359
ENSE00003652977	47819971	47820096
ENSE00003665070	47808538	47808660
ENSE00003667427	47818269	47818386

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 96.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3930 / max 94.0575, expressed in 1690 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166606	9.3739	1689
166607	0.0192	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.48	gold quality
body of stomach	UBERON:0001161	91.54	gold quality
transverse colon	UBERON:0001157	91.35	gold quality
pylorus	UBERON:0001166	90.26	gold quality
granulocyte	CL:0000094	90.18	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.93	gold quality
duodenum	UBERON:0002114	89.49	gold quality
stomach	UBERON:0000945	89.41	gold quality
small intestine	UBERON:0002108	89.07	gold quality
body of pancreas	UBERON:0001150	88.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.59	gold quality
rectum	UBERON:0001052	88.26	gold quality
fundus of stomach	UBERON:0001160	87.47	gold quality
metanephros cortex	UBERON:0010533	87.38	gold quality
right frontal lobe	UBERON:0002810	87.31	gold quality
cerebellar hemisphere	UBERON:0002245	87.03	gold quality
jejunal mucosa	UBERON:0000399	86.92	gold quality
spleen	UBERON:0002106	86.92	gold quality
cerebellar cortex	UBERON:0002129	86.87	gold quality
right lobe of thyroid gland	UBERON:0001119	86.81	gold quality
mucosa of stomach	UBERON:0001199	86.54	gold quality
left lobe of thyroid gland	UBERON:0001120	86.32	gold quality
right ovary	UBERON:0002118	86.10	gold quality
body of uterus	UBERON:0009853	85.71	gold quality
endocervix	UBERON:0000458	85.33	gold quality
intestine	UBERON:0000160	85.25	gold quality
thyroid gland	UBERON:0002046	85.21	gold quality
pituitary gland	UBERON:0000007	85.04	gold quality
apex of heart	UBERON:0002098	84.98	gold quality
right uterine tube	UBERON:0001302	84.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.23

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function. (PMID:21669198)
• In preliminary results, significantly higher levels of OSBP2 and OSBPL-7 mRNA were seen in blood samples from cholangiocarcinoma patients than in healthy controls. (PMID:21763455)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	osbpl7	ENSDARG00000012981
mus_musculus	Osbpl7	ENSMUSG00000038534
rattus_norvegicus	Osbpl7	ENSRNOG00000009473
drosophila_melanogaster	CG3860	FBGN0034951
caenorhabditis_elegans		WBGENE00008832

Paralogs (11): OSBPL5 (ENSG00000021762), 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 7 — Q9BZF2 (reviewed: Q9BZF2)

All UniProt accessions (3): Q9BZF2, J3QLK7, J3QSC2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytosol. Endoplasmic reticulum membrane. Cell membrane.

Tissue specificity. Expressed in epithelium of small and large intestines (at protein level). Expressed in stomach, duodenum, jejunum, ascending colon, spleen, thymus, lymph node, trachea and leukocytes.

Similarity. Belongs to the OSBP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BZF2-1	1	yes
Q9BZF2-2	2

RefSeq proteins (1): NP_665741* (*=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 (16 total): modified residue 5, sequence variant 3, splice variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZF2-F1	72.02	0.42

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 (5): 272, 171, 217, 226, 256

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-192105	Synthesis of bile acids and bile salts

MSigDB gene sets: 191 (showing top): E2F_Q4_01, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, SREBP1_02, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_BILE_ACID_BIOSYNTHETIC_PROCESS, GTGCCTT_MIR506, PAX8_B, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (6): bile acid biosynthetic process (GO:0006699), regulation of autophagy (GO:0010506), cellular response to cholesterol (GO:0071397), positive regulation of proteasomal protein catabolic process (GO:1901800), lipid transport (GO:0006869), sterol transport (GO:0015918)

GO Molecular Function (5): cholesterol binding (GO:0015485), sterol transfer activity (GO:0120015), lipid carrier activity (GO:0005319), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (11): nucleoplasm (GO:0005654), autophagosome (GO:0005776), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), perinuclear endoplasmic reticulum (GO:0097038), nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Bile acid and bile salt metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
sterol binding	2
binding	2
organelle membrane	2
cytoplasm	2
intracellular membrane-bounded organelle	2
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
autophagy	1
regulation of catabolic process	1
cellular response to sterol	1
response to cholesterol	1
cellular response to alcohol	1
proteasomal protein catabolic process	1
positive regulation of protein catabolic process	1
regulation of proteasomal protein catabolic process	1
transport	1
lipid localization	1
lipid transport	1
organic hydroxy compound transport	1
alcohol binding	1
sterol transport	1
lipid transfer activity	1
molecular carrier activity	1
nuclear lumen	1
vacuole	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
nucleus	1
nuclear envelope	1
endoplasmic reticulum	1
perinuclear region of cytoplasm	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

704 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSBPL7	PLEK2	Q9NYT0	667
OSBPL7	PLEK	P08567	663
OSBPL7	VAPA	Q9P0L0	594
OSBPL7	TYW1B	Q6NUM6	571
OSBPL7	RRAS	P10301	567
OSBPL7	OSBPL9	Q96SU4	496
OSBPL7	PRR15L	Q9BU68	474
OSBPL7	PYCR3	Q53H96	459
OSBPL7	NFE2L1	Q14494	441
OSBPL7	PNPO	Q9NVS9	426
OSBPL7	SYCE1L	A8MT33	400
OSBPL7	ZNF567	Q8N184	397
OSBPL7	MTARC1	Q5VT66	394
OSBPL7	ABCA8	O94911	390
OSBPL7	DAB2IP	Q5VWQ8	390

IntAct

6 interactions, top by confidence:

A	B	Type	Score
OSBPL7	MAP1LC3B	psi-mi:“MI:0915”(physical association)	0.400
ORF46	OSBPL7	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
OSBPL7	CCDC85C	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): OSBPL7 (Affinity Capture-MS), GABARAPL2 (PCA), GABARAPL2 (Two-hybrid), OSBPL7 (Affinity Capture-RNA), OSBPL7 (Affinity Capture-RNA), OSBPL7 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), CCDC85C (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), VAPA (Affinity Capture-MS), OSBPL3 (Affinity Capture-MS), OSBPL7 (Cross-Linking-MS (XL-MS)), OSBPL7 (Two-hybrid), OSBPL7 (Affinity Capture-MS), OSBPL7 (Proximity Label-MS)

ESM2 similar proteins: A1A4I4, A4D2P6, B2DCZ9, B4F7F3, D3ZFJ3, F1LXF1, O62683, O95049, P11274, P55194, P70268, P97492, P98203, Q05AA6, Q0QWG9, Q12851, Q13474, Q15642, Q16512, Q3KR56, Q3UFQ8, Q5FVC2, Q5PQM2, Q5RCJ1, Q5XHY1, Q60875, Q61161, Q63433, Q6PAJ1, Q6V7V2, Q6ZT62, Q7Z628, Q865S3, Q8C6B2, Q8ND23, Q8R1F1, Q8VEF1, Q923Q2, Q92974, Q96CP6

Diamond homologs: O13944, O14340, O80866, P16258, P22059, P35845, P38713, Q12451, Q3B7Z2, Q5QNQ6, Q8BX94, Q8BXR9, Q8K4M9, Q8L751, Q8S8P9, Q91XL9, Q93Y40, Q940Y1, Q969R2, Q9BXW6, Q9BZF2, Q9BZF3, Q9DBS9, Q9H1P3, Q9H4L5, Q9LZM1, Q9SAF0, Q9SR33, Q9SU36, D2KC46, D3ZY60, F1MS15, Q02201, Q54ID7, Q54PS9, Q54QP6, Q5M7Y0, Q5R6M6, Q5U3N0, Q6NRZ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	107
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3474 predictions. Top by Δscore:

Variant	Effect	Δscore
17:47808571:T:A	donor_gain	1.0000
17:47808861:GACC:G	donor_loss	1.0000
17:47808862:A:AC	donor_gain	1.0000
17:47808862:ACCTC:A	donor_loss	1.0000
17:47808863:C:CC	donor_gain	1.0000
17:47808863:C:G	donor_loss	1.0000
17:47808863:CCT:C	donor_gain	1.0000
17:47808986:TGAGT:T	acceptor_gain	1.0000
17:47808987:GAGT:G	acceptor_gain	1.0000
17:47808989:GT:G	acceptor_gain	1.0000
17:47808990:TCTGG:T	acceptor_loss	1.0000
17:47808991:C:CC	acceptor_gain	1.0000
17:47808991:CT:C	acceptor_loss	1.0000
17:47808992:T:G	acceptor_loss	1.0000
17:47809069:CACTT:C	donor_loss	1.0000
17:47809070:ACTTA:A	donor_loss	1.0000
17:47809071:CTTA:C	donor_loss	1.0000
17:47809072:TTA:T	donor_loss	1.0000
17:47809073:TAC:T	donor_loss	1.0000
17:47809074:A:AC	donor_gain	1.0000
17:47809075:C:CC	donor_gain	1.0000
17:47809075:CTG:C	donor_gain	1.0000
17:47809136:T:TA	donor_gain	1.0000
17:47809137:C:A	donor_gain	1.0000
17:47809218:GGC:G	acceptor_gain	1.0000
17:47809219:GC:G	acceptor_gain	1.0000
17:47809219:GCCT:G	acceptor_loss	1.0000
17:47809220:CC:C	acceptor_gain	1.0000
17:47809221:C:CC	acceptor_gain	1.0000
17:47809331:CA:C	donor_gain	1.0000

AlphaMissense

5514 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:47808595:C:G	R788P	1.000
17:47808882:C:G	R760T	1.000
17:47808889:C:G	D758H	1.000
17:47809459:A:G	W634R	1.000
17:47809459:A:T	W634R	1.000
17:47810651:A:G	F608S	1.000
17:47813272:A:C	S577R	1.000
17:47813272:A:T	S577R	1.000
17:47813274:T:G	S577R	1.000
17:47813313:A:C	Y564D	1.000
17:47818990:A:G	L122P	1.000
17:47819017:A:G	L113P	1.000
17:47819026:C:G	R110P	1.000
17:47819754:A:G	L77P	1.000
17:47819979:A:G	W65R	1.000
17:47819979:A:T	W65R	1.000
17:47819998:C:A	R58S	1.000
17:47819998:C:G	R58S	1.000
17:47819999:C:G	R58T	1.000
17:47820004:C:A	K56N	1.000
17:47820004:C:G	K56N	1.000
17:47808296:A:G	W842R	0.999
17:47808296:A:T	W842R	0.999
17:47808540:G:C	F806L	0.999
17:47808540:G:T	F806L	0.999
17:47808541:A:G	F806S	0.999
17:47808542:A:G	F806L	0.999
17:47808543:G:C	F805L	0.999
17:47808543:G:T	F805L	0.999
17:47808545:A:G	F805L	0.999

dbSNP variants (sampled 300 via entrez): RS1000044925 (17:47811436 C>T), RS1000112481 (17:47807342 T>C), RS1000902711 (17:47816957 C>T), RS1000915323 (17:47823033 C>T), RS1001662639 (17:47821899 G>C), RS1002268534 (17:47822023 G>A), RS1002757915 (17:47808364 A>C), RS1002912047 (17:47819649 G>A,T), RS1003495022 (17:47811979 TGTTGTACGCACGA>T), RS1003656148 (17:47821347 C>T), RS1003736752 (17:47815018 A>G,T), RS1003769369 (17:47814707 C>A), RS1003799487 (17:47821566 G>A), RS1004065499 (17:47811196 T>TC), RS1004867095 (17:47811706 C>T)

Disease associations

OMIM: gene MIM:606735 | disease phenotypes: MIM:614388

GenCC curated gene-disease

Mondo (1): encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (MONDO:0013726)

Orphanet (1): DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000759_11	LDL cholesterol	4.000000e-09
GCST000760_19	Cholesterol, total	1.000000e-08
GCST001915_38	Alzheimer’s disease (cognitive decline)	8.000000e-08
GCST002221_26	Cholesterol, total	1.000000e-07
GCST002222_43	LDL cholesterol	3.000000e-07
GCST002896_39	Cholesterol, total	4.000000e-13
GCST002898_34	LDL cholesterol	4.000000e-10
GCST005951_17	Body mass index	3.000000e-09
GCST006629_11	Pulse pressure	5.000000e-31
GCST006867_76	Type 2 diabetes	5.000000e-08
GCST007294_105	Body fat distribution (trunk fat ratio)	4.000000e-11
GCST007294_131	Body fat distribution (trunk fat ratio)	6.000000e-06
GCST007294_156	Body fat distribution (trunk fat ratio)	7.000000e-10
GCST007294_178	Body fat distribution (trunk fat ratio)	4.000000e-06
GCST007295_101	Body fat distribution (leg fat ratio)	4.000000e-08
GCST007295_117	Body fat distribution (leg fat ratio)	1.000000e-09
GCST007295_118	Body fat distribution (leg fat ratio)	1.000000e-06
GCST007295_57	Body fat distribution (leg fat ratio)	7.000000e-07
GCST007995_4	Asthma (childhood onset)	3.000000e-09
GCST008163_557	Height	2.000000e-06
GCST008916_117	Asthma	1.000000e-09
GCST010042_27	Asthma	3.000000e-12
GCST010043_36	Asthma	1.000000e-11
GCST011320_32	Type 2 diabetes or prostate cancer (pleiotropy)	5.000000e-08
GCST90014325_66	Asthma	5.000000e-10
GCST90020028_1416	Hip circumference adjusted for BMI	1.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004340	body mass index
EFO:0005763	pulse pressure measurement
EFO:0004341	body fat distribution
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression	2
GSK-J4	increases expression	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Doxorubicin	affects expression	1
Estradiol	increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Mustard Gas	increases expression	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2FK	HAP1 OSBPL7 (-) 1	Cancer cell line	Male
CVCL_E2FL	HAP1 OSBPL7 (-) 2	Cancer cell line	Male
CVCL_E2FM	HAP1 OSBPL7 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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