OSBPL6

Summary

OSBPL6 (oxysterol binding protein like 6, HGNC:16388) is a protein-coding gene on chromosome 2q31.2, encoding Oxysterol-binding protein-related protein 6 (Q9BZF3). Regulates cellular transport and efflux of cholesterol.

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 114880 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 139 total
• MANE Select transcript: NM_032523

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16388
Approved symbol	OSBPL6
Name	oxysterol binding protein like 6
Location	2q31.2
Locus type	gene with protein product
Status	Approved
Aliases	ORP6
Ensembl gene	ENSG00000079156
Ensembl biotype	protein_coding
OMIM	606734
Entrez	114880

Gene structure

Transcript identifiers

Ensembl transcripts: 62 — 60 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000190611, ENST00000315022, ENST00000357080, ENST00000359685, ENST00000392505, ENST00000409045, ENST00000409631, ENST00000477097, ENST00000477646, ENST00000881566, ENST00000881567, ENST00000881568, ENST00000881569, ENST00000881570, ENST00000881571, ENST00000881572, ENST00000881573, ENST00000881574, ENST00000881575, ENST00000881576, ENST00000881577, ENST00000881578, ENST00000881579, ENST00000881580, ENST00000881581, ENST00000881582, ENST00000881583, ENST00000881584, ENST00000881585, ENST00000881586, ENST00000881587, ENST00000932931, ENST00000932932, ENST00000932933, ENST00000932934, ENST00000932935, ENST00000932936, ENST00000932937, ENST00000946020, ENST00000946021, ENST00000946022, ENST00000946023, ENST00000946024, ENST00000946025, ENST00000946026, ENST00000946027, ENST00000946028, ENST00000946029, ENST00000946030, ENST00000946031, ENST00000946032, ENST00000946033, ENST00000946034, ENST00000946035, ENST00000946036, ENST00000946037, ENST00000946038, ENST00000946039, ENST00000946040, ENST00000946041, ENST00000946042, ENST00000946043

RefSeq mRNA: 5 — MANE Select: NM_032523 NM_001201480, NM_001201481, NM_001201482, NM_032523, NM_145739

CCDS: CCDS2277, CCDS2278, CCDS56150, CCDS56151, CCDS56152

Canonical transcript exons

ENST00000190611 — 25 exons

Exon	Start	End
ENSE00000882989	178394313	178394435
ENSE00000934302	178336301	178336433
ENSE00000934303	178338991	178339094
ENSE00000934304	178339672	178339764
ENSE00000934305	178349224	178349389
ENSE00000934306	178361682	178361815
ENSE00000934307	178372126	178372233
ENSE00000934311	178384039	178384176
ENSE00000934312	178385458	178385521
ENSE00000934313	178387061	178387139
ENSE00000934314	178389009	178389153
ENSE00000934315	178391073	178391217
ENSE00000934316	178392412	178392538
ENSE00001333028	178382420	178382507
ENSE00001333114	178284927	178285121
ENSE00001365502	178373890	178374027
ENSE00001389403	178383024	178383277
ENSE00001512215	178194512	178194674
ENSE00001956410	178395451	178402893
ENSE00002432076	178332641	178332754
ENSE00002504912	178332871	178333041
ENSE00002715526	178306030	178306286
ENSE00003475864	178328256	178328378
ENSE00003497645	178331552	178331605
ENSE00003676800	178324177	178324269

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3530 / max 146.8857, expressed in 1433 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23926	7.2649	1400
23927	0.8604	486
23928	0.1549	64
23930	0.0450	10
23931	0.0279	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.78	gold quality
tibialis anterior	UBERON:0001385	97.33	gold quality
bronchus	UBERON:0002185	96.56	gold quality
deltoid	UBERON:0001476	94.74	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.46	gold quality
middle temporal gyrus	UBERON:0002771	93.32	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.27	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.95	gold quality
endothelial cell	CL:0000115	90.94	gold quality
quadriceps femoris	UBERON:0001377	90.08	gold quality
postcentral gyrus	UBERON:0002581	89.63	gold quality
upper arm skin	UBERON:0004263	89.57	gold quality
lateral globus pallidus	UBERON:0002476	89.52	gold quality
gastrocnemius	UBERON:0001388	89.39	gold quality
parietal lobe	UBERON:0001872	89.37	gold quality
vastus lateralis	UBERON:0001379	89.35	gold quality
occipital lobe	UBERON:0002021	89.33	gold quality
primary visual cortex	UBERON:0002436	89.22	gold quality
skeletal muscle tissue	UBERON:0001134	88.85	gold quality
skeletal muscle organ	UBERON:0014892	88.75	gold quality
biceps brachii	UBERON:0001507	88.62	gold quality
muscle of leg	UBERON:0001383	88.55	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.69	gold quality
superior frontal gyrus	UBERON:0002661	87.43	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.24	gold quality
Brodmann (1909) area 46	UBERON:0006483	86.77	gold quality
secondary oocyte	CL:0000655	86.66	gold quality
superior vestibular nucleus	UBERON:0007227	86.42	gold quality
cortical plate	UBERON:0005343	85.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

239 targeting OSBPL6, 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-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
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

Literature-anchored findings (GeneRIF, showing 2)

• family-based GWAS of imputed SNPs revealed novel genomic variants in (or near) PTPRG, OSBPL6, and PDCL3 that influence risk for Alzheimer’s Disease. rs7609954 in the gene PTPRG, rs1347297 in the gene OSBPL6, and rs1513625 near PDCL3. In addition, rs72953347 in OSBPL6 and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value=4.76 x 10-7; rs62400067, P-value=3.54 x 10-7). (PMID:26830138)
• Oxysterol-binding protein-like 6 is a novel regulator of cholesterol trafficking that is part of the miR-33 and miR-27b target gene networks contributing to the maintenance of cholesterol homeostasis. (PMID:26941018)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	osbpl6	ENSDARG00000063730
mus_musculus	Osbpl6	ENSMUSG00000042359
rattus_norvegicus	Osbpl6	ENSRNOG00000010812
drosophila_melanogaster	CG3860	FBGN0034951
caenorhabditis_elegans		WBGENE00008832

Paralogs (11): OSBPL7 (ENSG00000006025), OSBPL5 (ENSG00000021762), OSBPL3 (ENSG00000070882), OSBPL8 (ENSG00000091039), OSBP (ENSG00000110048), OSBPL9 (ENSG00000117859), OSBPL2 (ENSG00000130703), OSBPL1A (ENSG00000141447), OSBPL10 (ENSG00000144645), OSBPL11 (ENSG00000144909), OSBP2 (ENSG00000184792)

Protein

Protein identifiers

Oxysterol-binding protein-related protein 6 — Q9BZF3 (reviewed: Q9BZF3)

All UniProt accessions (1): Q9BZF3

UniProt curated annotations — full annotation on UniProt →

Function. Regulates cellular transport and efflux of cholesterol. Plays a role in phosphatidylinositol-4-phophate (PI4P) turnover at the neuronal membrane. Binds via its PH domain PI4P, phosphatidylinositol-4,5-diphosphate, phosphatidylinositol-3,4,5-triphosphate, and phosphatidic acid. Weakly binds 25-hydroxycholesterol.

Subunit / interactions. Homodimer. Interacts with OSBPL3.

Subcellular location. Cytoplasm. Cytosol. Endoplasmic reticulum membrane. Nucleus envelope. Cell membrane. Endosome membrane.

Tissue specificity. Expressed in brain and striated muscle (at protein level). Widely expressed. Expressed in skeletal muscle.

Induction. By acetylated low-density lipoprotein.

Similarity. Belongs to the OSBP family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9BZF3-1	1	yes
Q9BZF3-2	2
Q9BZF3-3	3
Q9BZF3-4	4
Q9BZF3-5	5
Q9BZF3-6	6

RefSeq proteins (5): NP_001188409, NP_001188410, NP_001188411, NP_115912, NP_665682 (=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 (23 total): splice variant 6, modified residue 4, sequence conflict 4, compositionally biased region 3, sequence variant 2, initiator methionine 1, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZF3-F1	71.35	0.41

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 (4): 290, 2, 35, 190

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 195 (showing top): FISCHER_G1_S_CELL_CYCLE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, CTATGCA_MIR153, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_BILE_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, KMCATNNWGGA_UNKNOWN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, OCT1_06, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS

GO Biological Process (4): bile acid biosynthetic process (GO:0006699), regulation of cholesterol transport (GO:0032374), lipid transport (GO:0006869), sterol transport (GO:0015918)

GO Molecular Function (4): cholesterol binding (GO:0015485), sterol transfer activity (GO:0120015), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (13): endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), nuclear membrane (GO:0031965), perinuclear endoplasmic reticulum (GO:0097038), nucleus (GO:0005634), nuclear envelope (GO:0005635), cytoplasm (GO:0005737), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), endosome membrane (GO:0010008), 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	4
endomembrane system	3
sterol binding	2
binding	2
organelle membrane	2
cytoplasm	2
nucleus	2
intracellular membrane-bounded organelle	2
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
cholesterol transport	1
regulation of sterol transport	1
transport	1
lipid localization	1
lipid transport	1
organic hydroxy compound transport	1
alcohol binding	1
sterol transport	1
lipid transfer activity	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1
nuclear envelope	1
endoplasmic reticulum	1
perinuclear region of cytoplasm	1
organelle envelope	1
intracellular anatomical structure	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

558 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSBPL6	PLEK2	Q9NYT0	695
OSBPL6	PLEK	P08567	692
OSBPL6	ATP8B1	O43520	567
OSBPL6	VAPA	Q9P0L0	550
OSBPL6	NPC1	O15118	476
OSBPL6	MRPL54	Q6P161	465
OSBPL6	ABCB11	O95342	464
OSBPL6	PJVK	Q0ZLH3	464
OSBPL6	TNRC18	O15417	461
OSBPL6	NFE2L3	Q9Y4A8	451
OSBPL6	NCAPH2	Q6IBW4	446
OSBPL6	AGBL5	Q8NDL9	437
OSBPL6	DNPEP	Q9ULA0	436
OSBPL6	PDE11A	Q9HCR9	433
OSBPL6	GALNT18	Q6P9A2	430

IntAct

130 interactions, top by confidence:

A	B	Type	Score
QRSL1	GATB	psi-mi:“MI:0914”(association)	0.790
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
VAPB	PITPNM1	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
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
TMED2	ATP9A	psi-mi:“MI:0914”(association)	0.640
ARRDC1	NEDD4	psi-mi:“MI:0914”(association)	0.640
ZFPL1	PPP2R5E	psi-mi:“MI:0914”(association)	0.640
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
ILVBL	COG7	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
ORF	EIF3F	psi-mi:“MI:0914”(association)	0.560
OSBPL6	ORF	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
SLC2A5	RBFOX3	psi-mi:“MI:0914”(association)	0.530

BioGRID (119): OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Two-hybrid), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS), OSBPL6 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A0JNW5, A2RSJ4, F4HRV8, O17482, O95876, P49021, P79457, Q08D51, Q28C33, Q3B7T1, Q3UD82, Q498F0, Q5H8C4, Q5JSH3, Q5JTW2, Q5QNQ6, Q5R9R1, Q5THJ4, Q5ZLG9, Q6BDS2, Q6GLR7, Q6GQV7, Q6INA9, Q6NRZ1, Q6NVE8, Q6ZMT4, Q6ZWJ1, Q709C8, Q80T23, Q80XK6, Q812E4, Q8BX70, Q8BXR9, Q8C5W4, Q8IWB9, Q8N3A8, Q8N7X0, Q8TDW5

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 142 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	49.0×	2e-08
Activation of BAD and translocation to mitochondria	6	47.6×	3e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	42.0×	5e-07
Activation of BH3-only proteins	6	31.0×	2e-06
RHO GTPases activate PKNs	7	23.1×	2e-06
Intrinsic Pathway for Apoptosis	6	18.3×	4e-05
RHOQ GTPase cycle	6	11.3×	4e-04
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	11.2×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	17.0×	1e-03
intracellular protein localization	8	6.5×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	123
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4482 predictions. Top by Δscore:

Variant	Effect	Δscore
2:178284921:TTTCA:T	acceptor_loss	1.0000
2:178284922:TTCAG:T	acceptor_loss	1.0000
2:178284924:CAG:C	acceptor_loss	1.0000
2:178284925:AGGTT:A	acceptor_loss	1.0000
2:178285119:AAGG:A	donor_loss	1.0000
2:178285122:G:T	donor_loss	1.0000
2:178285123:T:A	donor_loss	1.0000
2:178324176:GAGT:G	acceptor_gain	1.0000
2:178328251:CTCA:C	acceptor_loss	1.0000
2:178328252:TCAGG:T	acceptor_loss	1.0000
2:178328253:CAGG:C	acceptor_loss	1.0000
2:178328254:A:AG	acceptor_gain	1.0000
2:178328254:AG:A	acceptor_gain	1.0000
2:178328254:AGG:A	acceptor_loss	1.0000
2:178328255:G:A	acceptor_loss	1.0000
2:178328255:G:GG	acceptor_gain	1.0000
2:178328255:GG:G	acceptor_gain	1.0000
2:178328255:GGAA:G	acceptor_gain	1.0000
2:178328374:ACAAG:A	donor_loss	1.0000
2:178328375:CAAG:C	donor_loss	1.0000
2:178328376:AAGGT:A	donor_loss	1.0000
2:178328377:AGGT:A	donor_loss	1.0000
2:178328378:GG:G	donor_loss	1.0000
2:178328379:G:C	donor_loss	1.0000
2:178328380:T:A	donor_loss	1.0000
2:178332867:TTA:T	acceptor_loss	1.0000
2:178332868:TAG:T	acceptor_loss	1.0000
2:178332869:A:AG	acceptor_gain	1.0000
2:178332869:A:AT	acceptor_loss	1.0000
2:178332870:G:GG	acceptor_gain	1.0000

AlphaMissense

6200 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:178328268:T:A	W70R	1.000
2:178328268:T:C	W70R	1.000
2:178328270:G:C	W70C	1.000
2:178328270:G:T	W70C	1.000
2:178328331:G:C	G91R	1.000
2:178328341:T:C	L94P	1.000
2:178328343:A:G	K95E	1.000
2:178328345:G:C	K95N	1.000
2:178328345:G:T	K95N	1.000
2:178328350:G:C	R97T	1.000
2:178328350:G:T	R97I	1.000
2:178328351:A:C	R97S	1.000
2:178328351:A:T	R97S	1.000
2:178328358:C:T	P100S	1.000
2:178328367:G:C	G103R	1.000
2:178328368:G:A	G103D	1.000
2:178328370:T:A	W104R	1.000
2:178328370:T:C	W104R	1.000
2:178328372:G:C	W104C	1.000
2:178328372:G:T	W104C	1.000
2:178328373:C:G	H105D	1.000
2:178331552:C:A	R107S	1.000
2:178331553:G:C	R107P	1.000
2:178331559:T:C	F109S	1.000
2:178331565:T:C	L111P	1.000
2:178331573:G:A	G114R	1.000
2:178331573:G:C	G114R	1.000
2:178331574:G:A	G114E	1.000
2:178331574:G:T	G114V	1.000
2:178331580:T:C	L116S	1.000

dbSNP variants (sampled 300 via entrez): RS1000005501 (2:178228636 G>A), RS1000021149 (2:178254077 C>T), RS1000035925 (2:178269689 T>G), RS1000043618 (2:178315047 A>G), RS1000070591 (2:178334673 G>A), RS1000080762 (2:178263250 G>A), RS1000082267 (2:178212799 G>C), RS1000094338 (2:178381952 G>A), RS1000116190 (2:178353268 C>G), RS1000117700 (2:178266219 A>C,G), RS1000141891 (2:178333181 C>G,T), RS1000143876 (2:178295045 A>C), RS1000148960 (2:178205521 T>C), RS1000154604 (2:178223125 G>A), RS1000193865 (2:178245948 A>C)

Disease associations

OMIM: gene MIM:606734 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST003332_1	Rapid functional decline in sporadic amyotrophic lateral sclerosis	2.000000e-08
GCST003427_72	Alzheimer disease and age of onset	5.000000e-08
GCST007327_70	Smoking status (ever vs never smokers)	4.000000e-08
GCST008829_5	Neuritic plaque	5.000000e-07
GCST010002_405	Refractive error	1.000000e-70
GCST010796_3177	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-09
GCST010796_3178	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_3179	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010818_18	Gut microbiota alpha diversity (PD_whole_tree index)	1.000000e-06
GCST010818_4	Gut microbiota alpha diversity (PD_whole_tree index)	8.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007784	functional decline measurement
EFO:0004847	age at onset
EFO:0004318	smoking behavior
EFO:0006798	neuritic plaque measurement
EFO:0004327	electrocardiography
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	6
trichostatin A	affects cotreatment, decreases expression, affects expression	4
bisphenol A	decreases expression, decreases methylation, increases methylation, affects cotreatment	3
sodium arsenite	increases abundance, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Estradiol	decreases expression, decreases reaction, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
tungsten carbide	decreases expression, affects cotreatment	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
sodium arsenate	decreases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases abundance, increases expression	1
cupric chloride	increases expression	1
1-nitropyrene	increases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Decitabine	affects expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Aldehydes	increases expression	1

Clinical trials (associated diseases)

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