SEC16B

Summary

SEC16B (SEC16 homolog B, endoplasmic reticulum export factor, HGNC:30301) is a protein-coding gene on chromosome 1q25.2, encoding Protein transport protein Sec16B (Q96JE7). Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER).

SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).

Source: NCBI Gene 89866 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant polycystic liver disease (Moderate, GenCC)
• GWAS associations: 116
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_033127

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30301
Approved symbol	SEC16B
Name	SEC16 homolog B, endoplasmic reticulum export factor
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	RGPR-p117, RGPR, Sec16S
Ensembl gene	ENSG00000120341
Ensembl biotype	protein_coding
OMIM	612855
Entrez	89866

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 25 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000308284, ENST00000327037, ENST00000441371, ENST00000464631, ENST00000495165, ENST00000526773, ENST00000527976, ENST00000528461, ENST00000870545, ENST00000870546, ENST00000870547, ENST00000870548, ENST00000870549, ENST00000870550, ENST00000870551, ENST00000870552, ENST00000870553, ENST00000870554, ENST00000870555, ENST00000870556, ENST00000870557, ENST00000870558, ENST00000870559, ENST00000870560, ENST00000870561, ENST00000870562, ENST00000870563, ENST00000870564, ENST00000870565, ENST00000870566

RefSeq mRNA: 7 — MANE Select: NM_033127 NM_001356499, NM_001356505, NM_001356506, NM_001390833, NM_001390834, NM_001390835, NM_033127

CCDS: CCDS44281, CCDS86035

Canonical transcript exons

ENST00000308284 — 26 exons

Exon	Start	End
ENSE00001545655	177969884	177970058
ENSE00002140785	177928788	177929929
ENSE00003464237	177932490	177932569
ENSE00003474479	177939702	177939777
ENSE00003478833	177958840	177958975
ENSE00003507504	177937214	177937513
ENSE00003513253	177944561	177944666
ENSE00003514657	177954279	177954376
ENSE00003523448	177936298	177936365
ENSE00003563877	177932698	177932806
ENSE00003564026	177933214	177933312
ENSE00003566204	177958132	177958362
ENSE00003579877	177960342	177960403
ENSE00003584654	177941900	177942040
ENSE00003586551	177940610	177940714
ENSE00003592726	177947825	177947942
ENSE00003592773	177933484	177933636
ENSE00003678468	177951914	177951995
ENSE00003688965	177930545	177930643
ENSE00003703329	177965893	177966005
ENSE00003704502	177960791	177960939
ENSE00003706458	177965047	177965167
ENSE00003707644	177967683	177968039
ENSE00003708347	177961590	177961734
ENSE00003708862	177964171	177964279
ENSE00003788881	177946420	177946531

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 93.43.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0099 / max 41.0884, expressed in 451 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16043	0.7689	391
16042	0.0943	50
16041	0.0929	16
16038	0.0268	8
16037	0.0100	4
16040	0.0096	5
16039	0.0073	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	93.43	gold quality
body of pancreas	UBERON:0001150	84.49	gold quality
adrenal tissue	UBERON:0018303	81.89	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.99	gold quality
body of stomach	UBERON:0001161	78.77	gold quality
sural nerve	UBERON:0015488	78.23	gold quality
small intestine	UBERON:0002108	78.20	gold quality
mucosa of transverse colon	UBERON:0004991	77.85	gold quality
pancreas	UBERON:0001264	77.82	gold quality
apex of heart	UBERON:0002098	77.69	gold quality
nerve	UBERON:0001021	77.28	gold quality
tibial nerve	UBERON:0001323	77.28	gold quality
Brodmann (1909) area 9	UBERON:0013540	77.26	gold quality
liver	UBERON:0002107	76.83	gold quality
right adrenal gland cortex	UBERON:0035827	76.44	gold quality
right frontal lobe	UBERON:0002810	76.19	gold quality
adenohypophysis	UBERON:0002196	76.06	gold quality
stomach	UBERON:0000945	75.84	gold quality
spleen	UBERON:0002106	75.43	gold quality
right uterine tube	UBERON:0001302	75.19	gold quality
gall bladder	UBERON:0002110	74.99	gold quality
right atrium auricular region	UBERON:0006631	74.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.75	gold quality
right adrenal gland	UBERON:0001233	74.73	gold quality
metanephros cortex	UBERON:0010533	74.73	gold quality
endocervix	UBERON:0000458	74.51	gold quality
left adrenal gland cortex	UBERON:0035825	74.25	gold quality
muscle of leg	UBERON:0001383	74.24	gold quality
prefrontal cortex	UBERON:0000451	74.13	gold quality
pituitary gland	UBERON:0000007	74.01	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.25

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
PEX3	Activation

miRNA regulators (miRDB)

51 targeting SEC16B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-539-5P	99.93	70.30	2855
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
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
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-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-3120-3P	99.54	70.28	2669

Literature-anchored findings (GeneRIF, showing 10)

• Mammalian cells contain two distinct Sec16 homologues: a large protein Sec16L of 2154 aa and a smaller protein Sec16S of 1060 aa. (PMID:17192411)
• Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese. (PMID:19851340)
• Data show that knockdown of Sec16B but not Sec16A by RNAi affected the morphology of peroxisomes, inhibited the transport of Pex16 from the ER to peroxisomes, and suppressed expression of Pex3. (PMID:21768384)
• describe characterization of the localization and dynamics of Sec16B relative to Sec16A, provide evidence that Sec16B is likely a minor or perhaps specialized form of Sec16, and that it is not functionally redundant with S (PMID:22355596)
• Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479. (PMID:23121087)
• SEC16B, MC4R, MAP2K5 and KCTD15 (rs17782313, rs543874, rs2241423 and rs11084753) polymorphisms are associated with the risk for children obesity in China. (PMID:25637721)
• Significant associations were identified at 3.5 years for SEC16B rs10913469 with dietary parameters (PMID:27005443)
• SNPs in several gene loci, including SEC16B were similarly associated (albeit not at array-wide signficance (P </= 6.7 x 10(-7)) with various phenotypes including fat mass, percentage fat mass, waist-to-hip ratio linked to body composition in this African cohort (PMID:30026463)
• Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis. (PMID:33958541)
• Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants. (PMID:35295960)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sec16b	ENSDARG00000099554
mus_musculus	Sec16b	ENSMUSG00000026589
rattus_norvegicus	Sec16b	ENSRNOG00000005229
drosophila_melanogaster	Sec16	FBGN0052654
caenorhabditis_elegans		WBGENE00017419

Paralogs (1): SEC16A (ENSG00000148396)

Protein

Protein identifiers

Protein transport protein Sec16B — Q96JE7 (reviewed: Q96JE7)

Alternative names: Leucine zipper transcription regulator 2, Regucalcin gene promoter region-related protein p117, SEC16 homolog B

All UniProt accessions (4): Q96JE7, E9PK14, H0YE70, U3KQ39

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. Involved in peroxisome biogenesis. Regulates the transport of peroxisomal biogenesis factors PEX3 and PEX16 from the ER to peroxisomes.

Subunit / interactions. SEC16A and SEC16B are each present in multiple copies in a heteromeric complex. Interacts with TFG. Interacts with SEC13.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the SEC16 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96JE7-1	1	yes
Q96JE7-2	2
Q96JE7-3	3

RefSeq proteins (7): NP_001343428, NP_001343434, NP_001343435, NP_001377762, NP_001377763, NP_001377764, NP_149118* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024298	Sec16_Sec23-bd	Domain
IPR024340	Sec16_CCD	Domain

Pfam: PF12931, PF12932

UniProt features (50 total): modified residue 13, compositionally biased region 12, region of interest 8, splice variant 6, sequence variant 5, sequence conflict 5, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JE7-F1	55.68	0.22

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 (13): 55, 143, 167, 188, 191, 254, 258, 858, 868, 871, 874, 882, 883

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-948021	Transport to the Golgi and subsequent modification

MSigDB gene sets: 141 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOCC_COATED_VESICLE, HNF4_DR1_Q3, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, HNF4_01

GO Biological Process (10): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), endoplasmic reticulum organization (GO:0007029), Golgi organization (GO:0007030), peroxisome organization (GO:0007031), positive regulation of gene expression (GO:0010628), protein transport (GO:0015031), peroxisome fission (GO:0016559), positive regulation of protein exit from endoplasmic reticulum (GO:0070863), protein localization to endoplasmic reticulum exit site (GO:0070973), vesicle-mediated transport (GO:0016192)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), ER to Golgi transport vesicle membrane (GO:0012507), intracellular membrane-bounded organelle (GO:0043231), endoplasmic reticulum exit site (GO:0070971), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Post-translational protein modification	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
organelle organization	3
cellular anatomical structure	3
endomembrane system organization	2
transport	2
endomembrane system	2
intracellular membrane-bounded organelle	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
intracellular protein localization	1
establishment of protein localization	1
peroxisome organization	1
organelle fission	1
protein exit from endoplasmic reticulum	1
regulation of protein exit from endoplasmic reticulum	1
positive regulation of intracellular protein transport	1
protein localization to endoplasmic reticulum	1
cellular process	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
COPII-coated ER to Golgi transport vesicle	1
transport vesicle membrane	1
coated vesicle membrane	1
intracellular anatomical structure	1
membrane-bounded organelle	1
intracellular organelle	1
endoplasmic reticulum	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEC16B	RGN	Q15493	946
SEC16B	GNPDA2	Q8TDQ7	872
SEC16B	TMEM18	Q96B42	871
SEC16B	SEC31A	O94979	838
SEC16B	SEC24C	P53992	828
SEC16B	MC4R	P32245	823
SEC16B	KCTD15	Q96SI1	812
SEC16B	SAR1A	Q9NR31	807
SEC16B	SEC13	P55735	803
SEC16B	SEC23A	Q15436	793
SEC16B	FAIM2	Q9BWQ8	772
SEC16B	SH2B1	Q9NRF2	770
SEC16B	NEGR1	Q7Z3B1	768
SEC16B	MTCH2	Q9Y6C9	766
SEC16B	LMAN1	P49257	751

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SEC16B	SEC13	psi-mi:“MI:0914”(association)	0.550
SEC13	SEC16B	psi-mi:“MI:0915”(physical association)	0.550
ALG3	SEC16B	psi-mi:“MI:0915”(physical association)	0.370
SEC16B	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): SEC16B (Two-hybrid), SEC16B (Two-hybrid), SEC16B (Biochemical Activity), POTEF (Affinity Capture-MS), SEC13 (Affinity Capture-MS), SEC16B (Biochemical Activity), SEC13 (Two-hybrid), SEC16B (Affinity Capture-MS), SEC13 (Affinity Capture-MS), POTEF (Affinity Capture-MS), SLC25A31 (Affinity Capture-MS), SEC16B (Affinity Capture-MS), SEC16B (Positive Genetic), SEC16B (Affinity Capture-RNA)

ESM2 similar proteins: A0A0R4IZ84, A0A1L8H8C0, A0A1L8HFX9, A2RUV4, F1LP90, F5HSE3, O43310, O60237, O75167, O88453, P41110, P61406, Q12830, Q1LVF3, Q2HJG4, Q2PFD7, Q3TLH4, Q5RAK6, Q5ZMS6, Q66HC1, Q6A0A2, Q6NRP6, Q6NZL0, Q6P1U3, Q6PKG0, Q75N33, Q7TN02, Q7TPM1, Q7YZA2, Q7Z6E9, Q80TN7, Q80XI3, Q86UR5, Q86US8, Q8IVL0, Q8IVL1, Q8K0V4, Q8N4C8, Q90YL3, Q90YY5

Diamond homologs: E9QAT4, O15027, Q6AW68, Q6BCB4, Q75N33, Q75NY9, Q91XT4, Q96JE7, Q9FGK9, Q9FGK8, Q6CEV2, A1DLN3, A2R4T4, Q4WD95, Q5AYL5, Q9HEC9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFG	up-regulates	SEC16B	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4251 predictions. Top by Δscore:

Variant	Effect	Δscore
1:177930539:CCTTA:C	donor_loss	1.0000
1:177930540:CTTA:C	donor_loss	1.0000
1:177930541:TTACC:T	donor_loss	1.0000
1:177930542:TAC:T	donor_loss	1.0000
1:177930543:A:AT	donor_loss	1.0000
1:177930640:CACT:C	acceptor_gain	1.0000
1:177930642:CT:C	acceptor_gain	1.0000
1:177932486:TTACC:T	donor_loss	1.0000
1:177932487:TACCT:T	donor_loss	1.0000
1:177932488:A:AC	donor_gain	1.0000
1:177932489:C:CC	donor_gain	1.0000
1:177932489:CCT:C	donor_gain	1.0000
1:177932566:CCAC:C	acceptor_gain	1.0000
1:177932567:CACC:C	acceptor_gain	1.0000
1:177932568:ACC:A	acceptor_loss	1.0000
1:177932570:C:CA	acceptor_loss	1.0000
1:177932571:T:A	acceptor_loss	1.0000
1:177933209:CCTA:C	donor_loss	1.0000
1:177933210:CTA:C	donor_loss	1.0000
1:177933211:TACCT:T	donor_loss	1.0000
1:177933213:C:CG	donor_loss	1.0000
1:177933213:CCT:C	donor_gain	1.0000
1:177933308:GAGCT:G	acceptor_gain	1.0000
1:177933309:AGCT:A	acceptor_gain	1.0000
1:177933311:CT:C	acceptor_gain	1.0000
1:177933313:C:CA	acceptor_loss	1.0000
1:177933313:C:CC	acceptor_gain	1.0000
1:177933498:T:TA	donor_gain	1.0000
1:177933499:C:A	donor_gain	1.0000
1:177933547:ATCAG:A	donor_gain	1.0000

AlphaMissense

6893 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:177947915:A:G	W525R	0.997
1:177947915:A:T	W525R	0.997
1:177942032:C:A	K630N	0.992
1:177942032:C:G	K630N	0.992
1:177951992:G:C	F489L	0.992
1:177951992:G:T	F489L	0.992
1:177951994:A:G	F489L	0.992
1:177958960:C:A	K338N	0.992
1:177958960:C:G	K338N	0.992
1:177958163:A:G	F445S	0.991
1:177947913:C:A	W525C	0.990
1:177947913:C:G	W525C	0.990
1:177954361:C:G	A461P	0.989
1:177941907:A:G	L672P	0.988
1:177951993:A:G	F489S	0.988
1:177958875:A:G	W367R	0.988
1:177958875:A:T	W367R	0.988
1:177942021:G:T	A634D	0.987
1:177958941:A:G	C345R	0.987
1:177940701:A:G	L679P	0.986
1:177942012:A:G	L637P	0.986
1:177947837:C:A	G551W	0.986
1:177958868:A:G	L369P	0.986
1:177960902:G:C	F275L	0.986
1:177960902:G:T	F275L	0.986
1:177960904:A:G	F275L	0.986
1:177946499:A:G	C566R	0.985
1:177940639:A:G	W700R	0.984
1:177940639:A:T	W700R	0.984
1:177942030:A:G	L631P	0.984

dbSNP variants (sampled 300 via entrez): RS1000036655 (1:177956511 C>G), RS1000053515 (1:177938717 T>C), RS1000059214 (1:177963052 G>A,T), RS1000110784 (1:177950610 A>G), RS1000172781 (1:177934671 A>G), RS1000288029 (1:177968970 T>A), RS1000388046 (1:177941267 C>T), RS1000441845 (1:177940792 A>G), RS1000444987 (1:177933943 C>A), RS1000470795 (1:177981144 C>T), RS1000476981 (1:177974834 G>A,C), RS1000536888 (1:177985644 G>GT), RS1000551287 (1:177942912 C>G), RS1000613284 (1:177983895 T>A), RS1000649478 (1:177940020 G>C)

Disease associations

OMIM: gene MIM:612855 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant polycystic liver disease	Moderate	Autosomal dominant

Mondo (1): autosomal dominant polycystic liver disease (MONDO:0000447)

Orphanet (0):

HPO phenotypes

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

GWAS associations

116 associations (top):

Study	Trait	p-value
GCST000296_1	Body mass index	6.000000e-08
GCST000299_15	Weight	1.000000e-08
GCST000830_3	Body mass index	4.000000e-23
GCST000880_8	Menarche (age at onset)	2.000000e-08
GCST001416_7	Body mass index (SNP x SNP interaction)	3.000000e-09
GCST001851_11	Schizophrenia	1.000000e-06
GCST001953_21	Obesity	9.000000e-23
GCST001953_28	Obesity	4.000000e-19
GCST001953_49	Obesity	7.000000e-20
GCST001955_10	Body mass index	5.000000e-12
GCST001967_1	Body mass index	2.000000e-13
GCST002021_11	Body mass index	4.000000e-11
GCST002337_68	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST002461_10	Body mass index	2.000000e-19
GCST002541_33	Menarche (age at onset)	1.000000e-15
GCST002783_117	Body mass index	1.000000e-33
GCST002783_142	Body mass index	3.000000e-35
GCST002783_329	Body mass index	2.000000e-40
GCST002783_604	Body mass index	3.000000e-11
GCST003177_28	Childhood body mass index	2.000000e-19
GCST003435_18	Body fat percentage	6.000000e-06
GCST003435_4	Body fat percentage	5.000000e-07
GCST003435_8	Body fat percentage	5.000000e-08
GCST003542_61	Night sleep phenotypes	2.000000e-06
GCST003993_34	Menarche (age at onset)	5.000000e-11
GCST004065_29	Waist circumference	2.000000e-19
GCST004065_33	Waist circumference	3.000000e-23
GCST004065_41	Waist circumference	2.000000e-08
GCST004066_107	Hip circumference	1.000000e-20
GCST004066_55	Hip circumference	6.000000e-08

EFO canonical traits (23, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004338	body weight
EFO:0004703	age at menarche
EFO:0007800	body fat percentage
EFO:0007827	nighttime rest measurement
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0006941	grip strength measurement
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007041	obese body mass index status
EFO:0004341	body fat distribution
EFO:0007626	emphysema imaging measurement
EFO:0010093	bitter non-alcoholic beverage consumption measurement
EFO:0006781	coffee consumption measurement
EFO:0000473	epigenetic status
EFO:0022597	aging
EFO:0000195	metabolic syndrome
EFO:0008111	diet measurement
EFO:0004469	HOMA-B
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004533	alkaline phosphatase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
bisphenol A	decreases methylation, affects cotreatment, decreases expression	2
Acetaminophen	decreases expression	2
Nickel	decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
trichostatin A	increases expression	1
ferrous chloride	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	increases expression	1
GW 7647	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	affects cotreatment, increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01157858	PHASE2	COMPLETED	Everolimus and LongActing Octreotide Trial in Polycystic Livers
NCT01670110	PHASE2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT02021110	PHASE2	COMPLETED	Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease
NCT05478083	PHASE2	RECRUITING	A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease
NCT00426153	PHASE2/PHASE3	COMPLETED	Octreotide in Severe Polycystic Liver Disease
NCT00565097	PHASE2/PHASE3	COMPLETED	Lanreotide as Treatment of Polycystic Livers
NCT00771888	PHASE2/PHASE3	UNKNOWN	Open-Label Extension of LOCKCYST Trial
NCT01315795	PHASE2/PHASE3	COMPLETED	Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease
NCT05281328	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Trial to Assess the Efficacy and Safety of Octreotide Subcutaneous Depot in Patients With PLD
NCT00934791	Not specified	TERMINATED	Polycystic Liver Disease in Kidney Transplant
NCT01354405	Not specified	COMPLETED	Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE)
NCT02173080	Not specified	COMPLETED	Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q).
NCT03960710	Not specified	UNKNOWN	Automatic Segmentation of Polycystic Liver
NCT04111692	Not specified	RECRUITING	A Prospective Observational Study of Foam Sclerotherapy .
NCT04645251	Not specified	RECRUITING	Polycystic Liver Disease Registry (UK)
NCT05215964	Not specified	UNKNOWN	The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease
NCT05500157	Not specified	UNKNOWN	Assessment of Treatment With Laparoscopic Fenestration or Aspiration Sclerotherapy for Large Symptomatic Hepatic Cysts