EXOC3L2

Summary

EXOC3L2 (exocyst complex component 3 like 2, HGNC:30162) is a protein-coding gene on chromosome 19q13.32, encoding Exocyst complex component 3-like protein 2 (Q2M3D2).

The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer’s disease.

Source: NCBI Gene 90332 — RefSeq curated summary.

At a glance

• Gene–disease (curated): brain malformation renal syndrome (Strong, GenCC)
• GWAS associations: 25
• Clinical variants (ClinVar): 105 total — 5 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 28
• MANE Select transcript: NM_001382422

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30162
Approved symbol	EXOC3L2
Name	exocyst complex component 3 like 2
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36147, XTP7
Ensembl gene	ENSG00000283632
Ensembl biotype	protein_coding
OMIM	616927
Entrez	90332

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000413988, ENST00000857198, ENST00000952151

RefSeq mRNA: 1 — MANE Select: NM_001382422 NM_001382422

CCDS: CCDS92642

Canonical transcript exons

ENST00000413988 — 12 exons

Exon	Start	End
ENSE00001112593	45231763	45231874
ENSE00001158867	45212370	45213357
ENSE00002774868	45238523	45239061
ENSE00002808887	45245341	45245407
ENSE00003799279	45234193	45234826
ENSE00003802157	45224778	45224913
ENSE00003803748	45217528	45217683
ENSE00003805802	45227662	45227772
ENSE00003807174	45216073	45216194
ENSE00003807367	45218197	45218319
ENSE00003809320	45227974	45228074
ENSE00003810760	45228165	45228266

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 96.31.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2963 / max 63.2392, expressed in 277 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181446	1.2963	277

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	96.31	gold quality
secondary oocyte	CL:0000655	91.91	gold quality
buccal mucosa cell	CL:0002336	90.46	gold quality
cardia of stomach	UBERON:0001162	88.12	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.63	silver quality
renal medulla	UBERON:0000362	87.08	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.70	silver quality
vena cava	UBERON:0004087	86.62	silver quality
subthalamic nucleus	UBERON:0001906	86.55	silver quality
pylorus	UBERON:0001166	86.10	silver quality
substantia nigra pars compacta	UBERON:0001965	85.81	silver quality
lateral globus pallidus	UBERON:0002476	85.77	gold quality
nasal cavity epithelium	UBERON:0005384	85.73	silver quality
ventral tegmental area	UBERON:0002691	85.66	silver quality
dorsal plus ventral thalamus	UBERON:0001897	85.60	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.20	silver quality
metanephros cortex	UBERON:0010533	85.13	gold quality
right lobe of thyroid gland	UBERON:0001119	84.78	gold quality
pericardium	UBERON:0002407	84.78	gold quality
metanephros	UBERON:0000081	84.43	gold quality
inferior vagus X ganglion	UBERON:0005363	84.08	silver quality
medulla oblongata	UBERON:0001896	83.77	silver quality
superior vestibular nucleus	UBERON:0007227	83.24	silver quality
pons	UBERON:0000988	82.79	silver quality
adult mammalian kidney	UBERON:0000082	82.71	gold quality
tongue	UBERON:0001723	82.64	silver quality
superior surface of tongue	UBERON:0007371	82.62	silver quality
body of tongue	UBERON:0011876	82.50	silver quality
trachea	UBERON:0003126	82.11	silver quality
left lobe of thyroid gland	UBERON:0001120	82.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	533.46
E-ANND-3	yes	3.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting EXOC3L2, 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-4425	100.00	67.59	1049
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6840-3P	98.68	65.95	1923

Literature-anchored findings (GeneRIF, showing 5)

• exoc3l2 silencing inhibits VEGF receptor 2 phosphorylation and VEGFA-directed migration of cultured endothelial cells. (PMID:21566143)
• This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to late-onset Alzheimer’s disease in the Northern Han Chinese population. (PMID:22381399)
• This meta-analysis assesses an association between rs597668 polymorphism in EXOC3L2 and Alzheimer’s disease. (PMID:23663385)
• EXOC3L2 rs597668 variant is associated with Alzheimer’s disease susceptibility. (PMID:28423615)
• We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow. (PMID:30327448)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc3l2a	ENSDARG00000008414
danio_rerio	exoc3l2b	ENSDARG00000030782
mus_musculus	Exoc3l2	ENSMUSG00000011263
rattus_norvegicus	Exoc3l2	ENSRNOG00000017448

Paralogs (4): EXOC3L1 (ENSG00000179044), EXOC3 (ENSG00000180104), TNFAIP2 (ENSG00000185215), EXOC3L4 (ENSG00000205436)

Protein

Protein identifiers

Exocyst complex component 3-like protein 2 — Q2M3D2 (reviewed: Q2M3D2)

Alternative names: HBV X-transactivated gene 7 protein, HBV XAg-transactivated protein 7

All UniProt accessions (1): Q2M3D2

UniProt curated annotations — full annotation on UniProt →

Disease relevance. Brain malformation renal syndrome (BMRS) [MIM:620943] An autosomal recessive syndrome characterized by brain abnormalities, Dandy-Walker malformation, and renal dysplasia. Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SEC6 family.

RefSeq proteins (1): NP_001369351* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010326	EXOC3/Sec6	Family
IPR042532	EXOC3/Sec6_C	Homologous_superfamily

Pfam: PF06046

UniProt features (9 total): region of interest 3, sequence variant 3, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2M3D2-F1	74.26	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, GOBP_SECRETION, CUI_TCF21_TARGETS_2_DN, GOCC_EXOCYST, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, LEE_BMP2_TARGETS_DN, GOCC_VESICLE_TETHERING_COMPLEX, ZNF282_TARGET_GENES, MIR15A_5P, MIR195_5P, MIR15B_5P

GO Biological Process (1): exocytosis (GO:0006887)

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

GO Cellular Component (1): exocyst (GO:0000145)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
binding	1
cell cortex	1
vesicle tethering complex	1

Protein interactions and networks

STRING

692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC3L2	PDE7B	Q9NP56	678
EXOC3L2	PICALM	Q13492	661
EXOC3L2	EXOC4	Q96A65	647
EXOC3L2	MARK4	Q96L34	609
EXOC3L2	BLOC1S3	Q6QNY0	598
EXOC3L2	BIN1	O00499	597
EXOC3L2	CLU	P10909	544
EXOC3L2	MS4A6E	Q96DS6	517
EXOC3L2	TNK1	Q13470	507
EXOC3L2	ABCA7	Q8IZY2	506
EXOC3L2	SEPTIN9	Q9UHD8	506
EXOC3L2	CD2AP	Q9Y5K6	471
EXOC3L2	APOE	P02649	448
EXOC3L2	SORL1	Q92673	447
EXOC3L2	TOMM40	O96008	445

IntAct

23 interactions, top by confidence:

A	B	Type	Score
EXOC3L2	TNFSF18	psi-mi:“MI:0915”(physical association)	0.560
MRPL12	EXOC3L2	psi-mi:“MI:0915”(physical association)	0.560
BIK	EXOC3L2	psi-mi:“MI:0915”(physical association)	0.560
	EXOC3L2	psi-mi:“MI:0915”(physical association)	0.560
EXOC3L2	GPR148	psi-mi:“MI:0915”(physical association)	0.560
EXOC3L2	HSPA8	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
EXOC3L2	SIAH1	psi-mi:“MI:0914”(association)	0.350
PCDH20	CAPN5	psi-mi:“MI:0914”(association)	0.350
TUBB	VWA8	psi-mi:“MI:0914”(association)	0.350
UBR2	NIPSNAP2	psi-mi:“MI:0914”(association)	0.350
MDC1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
EXOC3L2	MRPL12	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L2	BIK	psi-mi:“MI:0915”(physical association)	0.000
EXOC3L2		psi-mi:“MI:0915”(physical association)	0.000
EXOC3L2	GPR148	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): SIAH1 (Affinity Capture-MS), MIPEP (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), EXOC4 (Affinity Capture-Western), EXOC3L2 (Proximity Label-MS), EXOC3L2 (Two-hybrid), EXOC3L2 (Two-hybrid), EXOC3L2 (Two-hybrid), EXOC3L2 (Two-hybrid), EXOC3L2 (Two-hybrid), EXOC3L2 (Two-hybrid), EXOC3L2 (Positive Genetic), MIPEP (Affinity Capture-MS), SIAH1 (Affinity Capture-MS), EXOC3L2 (Negative Genetic)

ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8

Diamond homologs: A2AV37, O60645, Q0V8C2, Q0VCR8, Q2M3D2, Q62825, Q6KAR6, Q86VI1, Q8BI71, Q17RC7, Q6DIA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	1
Uncertain significance	62
Likely benign	21
Benign	10

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1027393	NC_000019.9:g.(45728172_45730919)_(45731525_45735020)del	Pathogenic
1252026	NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln)	Pathogenic
3340131	EXOC3L2, LEU41GLN	Pathogenic
3340132	EXOC3L2, ARG72TER	Pathogenic
3340134	EXOC3L2, EX3-5DEL (SCV001519072)	Pathogenic
3235909	NM_001382422.1(EXOC3L2):c.1972dup (p.Gln658fs)	Likely pathogenic

SpliceAI

891 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45213354:CTGC:C	acceptor_gain	1.0000
19:45213355:TGC:T	acceptor_gain	1.0000
19:45213356:GC:G	acceptor_gain	1.0000
19:45213357:CC:C	acceptor_gain	1.0000
19:45213357:CCTG:C	acceptor_loss	1.0000
19:45213358:C:CC	acceptor_gain	1.0000
19:45216068:CTCAC:C	donor_loss	1.0000
19:45216069:TCACC:T	donor_loss	1.0000
19:45216070:CACCT:C	donor_loss	1.0000
19:45216071:A:AG	donor_loss	1.0000
19:45216072:C:G	donor_loss	1.0000
19:45216190:GACTC:G	acceptor_gain	1.0000
19:45216191:ACTC:A	acceptor_gain	1.0000
19:45216191:ACTCC:A	acceptor_gain	1.0000
19:45216192:CTC:C	acceptor_gain	1.0000
19:45216192:CTCC:C	acceptor_gain	1.0000
19:45216192:CTCCT:C	acceptor_gain	1.0000
19:45216193:TC:T	acceptor_gain	1.0000
19:45216193:TCCT:T	acceptor_gain	1.0000
19:45216194:CC:C	acceptor_gain	1.0000
19:45216195:C:A	acceptor_loss	1.0000
19:45216195:C:CC	acceptor_gain	1.0000
19:45216198:C:CT	acceptor_gain	1.0000
19:45217523:CTGA:C	donor_loss	1.0000
19:45217524:TGA:T	donor_loss	1.0000
19:45217525:GAC:G	donor_loss	1.0000
19:45217526:A:AC	donor_gain	1.0000
19:45217527:C:CC	donor_gain	1.0000
19:45217527:CCAG:C	donor_gain	1.0000
19:45217679:AGCGC:A	acceptor_gain	1.0000

AlphaMissense

5011 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45218289:A:G	W191R	0.998
19:45218289:A:T	W191R	0.998
19:45218287:C:A	W191C	0.997
19:45218287:C:G	W191C	0.997
19:45217537:G:C	F270L	0.995
19:45217537:G:T	F270L	0.995
19:45217539:A:G	F270L	0.995
19:45217539:A:T	F270I	0.994
19:45217665:G:C	H228D	0.994
19:45213334:A:T	L322H	0.992
19:45216097:A:G	L306S	0.992
19:45217538:A:G	F270S	0.992
19:45227983:A:G	F95S	0.992
19:45216154:A:G	L287S	0.991
19:45213220:A:G	F360S	0.990
19:45227982:G:C	F95L	0.990
19:45227982:G:T	F95L	0.990
19:45227984:A:G	F95L	0.990
19:45213219:A:C	F360L	0.989
19:45213219:A:T	F360L	0.989
19:45213221:A:G	F360L	0.989
19:45213220:A:C	F360C	0.988
19:45216118:A:T	I299N	0.988
19:45216120:G:C	S298R	0.988
19:45216120:G:T	S298R	0.988
19:45216122:T:G	S298R	0.988
19:45217550:A:G	L266P	0.988
19:45217571:A:G	L259P	0.988
19:45217539:A:C	F270V	0.987
19:45217667:A:G	L227P	0.987

dbSNP variants (sampled 300 via entrez): RS1000026004 (19:45216897 C>T), RS1000424724 (19:45225835 C>T), RS1000433164 (19:45246646 A>G,T), RS1000471139 (19:45214653 C>T), RS1000511579 (19:45231173 C>T), RS1000598048 (19:45244739 C>T), RS1000826049 (19:45238701 G>A), RS1000875981 (19:45242367 C>T), RS1000880315 (19:45226101 G>T), RS1000949929 (19:45238520 C>T), RS1000991360 (19:45242721 G>A), RS1001078940 (19:45215897 C>T), RS1001124255 (19:45237017 A>T), RS1001185061 (19:45228598 C>G), RS1001344003 (19:45234516 A>G,T)

Disease associations

OMIM: gene MIM:616927 | disease phenotypes: MIM:249000, MIM:620943

GenCC curated gene-disease

Disease	Classification	Inheritance
brain malformation renal syndrome	Strong	Autosomal recessive

Mondo (2): Meckel syndrome (MONDO:0018921), brain malformation renal syndrome (MONDO:0975799)

Orphanet (1): Meckel syndrome (Orphanet:564)

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000092	Renal tubular atrophy
HP:0000659	Peters anomaly
HP:0000793	Membranoproliferative glomerulonephritis
HP:0001305	Dandy-Walker malformation
HP:0001320	Cerebellar vermis hypoplasia
HP:0001562	Oligohydramnios
HP:0001873	Thrombocytopenia
HP:0001875	Decreased total neutrophil count
HP:0001876	Pancytopenia
HP:0001903	Anemia
HP:0002089	Pulmonary hypoplasia
HP:0002198	Dilated fourth ventricle
HP:0003577	Congenital onset
HP:0003774	Stage 5 chronic kidney disease
HP:0004719	Hyperechogenic kidneys
HP:0005445	Enlarged posterior fossa
HP:0005528	Bone marrow hypocellularity
HP:0007063	Aplasia of the inferior half of the cerebellar vermis
HP:0011344	Severe global developmental delay
HP:0025700	Anhydramnios
HP:0030674	Antenatal onset
HP:0031412	Abnormal telomere morphology
HP:0034198	Second trimester onset
HP:0040012	Chromosome breakage
HP:0100307	Cerebellar hemisphere hypoplasia
HP:0100333	Unilateral cleft lip
HP:0100334	Unilateral cleft palate

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000337_21	Quantitative traits	2.000000e-06
GCST000337_22	Quantitative traits	4.000000e-07
GCST001337_36	Platelet count	4.000000e-10
GCST002422_1	Alzheimer’s disease	9.000000e-116
GCST003219_43	Advanced age-related macular degeneration	3.000000e-07
GCST004599_154	Mean platelet volume	6.000000e-78
GCST005194_29	Coronary artery disease	1.000000e-10
GCST005557_4	Serum uric acid levels	3.000000e-07
GCST005950_15	Body mass index x sex x age interaction (4df test)	2.000000e-10
GCST005951_56	Body mass index	1.000000e-06
GCST005952_8	Body mass index (age>50)	9.000000e-12
GCST005954_4	Body mass index x age interaction	2.000000e-07
GCST006701_3	Parental longevity (father’s attained age)	9.000000e-09
GCST006979_682	Heel bone mineral density	2.000000e-10
GCST007320_22	Alzheimer’s disease or family history of Alzheimer’s disease	2.000000e-22
GCST007320_41	Alzheimer’s disease or family history of Alzheimer’s disease	5.000000e-13
GCST007320_46	Alzheimer’s disease or family history of Alzheimer’s disease	4.000000e-12
GCST007827_3	Alzheimer’s disease or HDL levels (pleiotropy)	1.000000e-97
GCST007827_8	Alzheimer’s disease or HDL levels (pleiotropy)	3.000000e-36
GCST90002384_455	Hemoglobin	1.000000e-13
GCST90002395_417	Mean platelet volume	2.000000e-166
GCST90002401_295	Platelet distribution width	9.000000e-80
GCST90002402_566	Platelet count	2.000000e-52
GCST90002403_302	Red blood cell count	1.000000e-13
GCST90002407_629	White blood cell count	5.000000e-09

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004309	platelet count
EFO:1001492	atrophic macular degeneration
EFO:0004761	uric acid measurement
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007796	parental longevity
EFO:0009270	heel bone mineral density
EFO:0009268	family history of Alzheimer’s disease
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004509	hemoglobin measurement
EFO:0007984	platelet component distribution width
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
sodium arsenite	increases expression	1
aflatoxin B2	decreases methylation	1
maleic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression, affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Arsenic	affects methylation	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Triclosan	decreases expression	1
Valproic Acid	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01401998	Not specified	RECRUITING	ARPKD Database Study