EXOC8

Summary

EXOC8 (exocyst complex component 8, HGNC:24659) is a protein-coding gene on chromosome 1q42.2, encoding Exocyst complex component 8 (Q8IYI6). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. It is a selective cancer dependency (DepMap: 33.6% of cell lines).

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome.

Source: NCBI Gene 149371 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 107 total — 1 likely-pathogenic
• Phenotypes (HPO): 25
• Cancer dependency (DepMap): dependent in 33.6% of screened cell lines
• MANE Select transcript: NM_175876

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24659
Approved symbol	EXOC8
Name	exocyst complex component 8
Location	1q42.2
Locus type	gene with protein product
Status	Approved
Aliases	SEC84, EXO84, Exo84p
Ensembl gene	ENSG00000116903
Ensembl biotype	protein_coding
OMIM	615283
Entrez	149371

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000366645

RefSeq mRNA: 1 — MANE Select: NM_175876 NM_175876

CCDS: CCDS1593

Canonical transcript exons

ENST00000366645 — 1 exons

Exon	Start	End
ENSE00001442235	231332753	231337852

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 92.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7933 / max 133.8733, expressed in 1783 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17978	9.8930	1782
17979	0.5775	194
17980	0.3228	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	92.15	gold quality
deltoid	UBERON:0001476	90.96	gold quality
endothelial cell	CL:0000115	90.32	gold quality
germinal epithelium of ovary	UBERON:0001304	90.26	gold quality
parietal pleura	UBERON:0002400	89.92	gold quality
upper leg skin	UBERON:0004262	89.42	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.52	gold quality
visceral pleura	UBERON:0002401	88.50	gold quality
amniotic fluid	UBERON:0000173	88.15	gold quality
tibialis anterior	UBERON:0001385	87.99	silver quality
palpebral conjunctiva	UBERON:0001812	86.22	gold quality
tibia	UBERON:0000979	85.98	gold quality
biceps brachii	UBERON:0001507	85.84	gold quality
quadriceps femoris	UBERON:0001377	85.70	gold quality
vastus lateralis	UBERON:0001379	85.45	gold quality
gingival epithelium	UBERON:0001949	84.71	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	84.71	gold quality
skeletal muscle tissue	UBERON:0001134	84.68	gold quality
Brodmann (1909) area 46	UBERON:0006483	84.05	gold quality
mucosa of paranasal sinus	UBERON:0005030	84.03	gold quality
gastrocnemius	UBERON:0001388	83.90	gold quality
placenta	UBERON:0001987	83.83	gold quality
ileal mucosa	UBERON:0000331	83.70	gold quality
esophagus squamous epithelium	UBERON:0006920	83.68	gold quality
gingiva	UBERON:0001828	83.66	gold quality
muscle of leg	UBERON:0001383	83.25	gold quality
middle temporal gyrus	UBERON:0002771	83.25	gold quality
bone marrow	UBERON:0002371	83.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.09	gold quality
calcaneal tendon	UBERON:0003701	83.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting EXOC8, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-539-5P	99.93	70.30	2855

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 33.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• evidence that mammalian exocyst components are present as distinct subcomplexes on vesicles and the plasma membrane and that Ral GTPases regulate the assembly interface of a full octameric exocyst complex through interaction with Sec5 and Exo84 (PMID:14525976)
• shRNA-mediated knockdown of the Ral effector proteins Sec5 and Exo84, but less so in the case of RalBP1, reduced oncogenic RalGEF-mediated transformation and oncogenic Ras-driven tumorigenic growth of human cells. (PMID:20145037)
• We identified interactions between RalA and its effectors sec5 and exo84 in the Exocyst complex as directly necessary for migration and invasion of prostate cancer tumor cells. (PMID:22761837)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	exoc8	ENSDARG00000063211
mus_musculus	Exoc8	ENSMUSG00000074030
rattus_norvegicus	Exoc8	ENSRNOG00000071599
drosophila_melanogaster	Exo84	FBGN0266668
caenorhabditis_elegans	exoc-8	WBGENE00013687

Protein

Protein identifiers

Exocyst complex component 8 — Q8IYI6 (reviewed: Q8IYI6)

Alternative names: Exocyst complex 84 kDa subunit

All UniProt accessions (1): Q8IYI6

UniProt curated annotations — full annotation on UniProt →

Function. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts (via PH domain) with GTP-bound RALA and RALB. Interacts with SH3BP1; required for the localization of both SH3BP1 and the exocyst to the leading edge of migrating cells.

Subcellular location. Cytoplasm. Perinuclear region. Cell projection. Growth cone.

Disease relevance. Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) [MIM:619076] An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life. Death in childhood may occur. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the EXO84 family.

RefSeq proteins (1): NP_787072* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016159	Cullin_repeat-like_dom_sf	Homologous_superfamily
IPR032403	Exo84_C	Domain
IPR033961	Exo84	Family
IPR042560	Exo84_C_2	Homologous_superfamily
IPR042561	Exo84_C_1	Homologous_superfamily

Pfam: PF08700, PF16528

UniProt features (8 total): region of interest 2, modified residue 2, chain 1, domain 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYI6-F1	74.86	0.03

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 (2): 19, 142

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-264876	Insulin processing
R-HSA-5620916	VxPx cargo-targeting to cilium

MSigDB gene sets: 222 (showing top): GOBP_MITOTIC_CYTOKINESIS, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_ENDOSOME_ORGANIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_MACROAUTOPHAGY, GOBP_MEMBRANE_DOCKING, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT

GO Biological Process (11): mitotic cytokinesis (GO:0000281), exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), obsolete vesicle docking involved in exocytosis (GO:0006904), endosome organization (GO:0007032), intracellular protein localization (GO:0008104), protein transport (GO:0015031), regulation of macroautophagy (GO:0016241), extracellular matrix disassembly (GO:0022617), membrane fission (GO:0090148), obsolete vesicle tethering involved in exocytosis (GO:0090522)

GO Molecular Function (3): small GTPase binding (GO:0031267), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515)

GO Cellular Component (10): exocyst (GO:0000145), late endosome (GO:0005770), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), growth cone (GO:0030426), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), cell projection (GO:0042995), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Membrane Trafficking	1
Peptide hormone metabolism	1
Cargo trafficking to the periciliary membrane	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoplasm	2
mitotic cell cycle	1
cytoskeleton-dependent cytokinesis	1
mitotic cell cycle process	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
post-Golgi vesicle-mediated transport	1
vesicle-mediated transport to the plasma membrane	1
endomembrane system organization	1
vesicle organization	1
macromolecule localization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
regulation of autophagy	1
macroautophagy	1
cellular component disassembly	1
extracellular matrix organization	1
membrane organization	1
GTPase binding	1
anion binding	1
binding	1
cell cortex	1
vesicle tethering complex	1
endosome	1
membrane	1
cell periphery	1
site of polarized growth	1
distal axon	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOC8	EXOC6	Q8TAG9	999
EXOC8	EXOC3	O60645	999
EXOC8	EXOC1	Q9NV70	999
EXOC8	EXOC2	Q96KP1	998
EXOC8	EXOC4	Q96A65	998
EXOC8	EXOC7	Q9UPT5	998
EXOC8	EXOC5	O00471	998
EXOC8	RALB	P11234	996
EXOC8	RALA	P11233	995
EXOC8	BECN1	Q14457	884
EXOC8	RALBP1	Q15311	759
EXOC8	RAB11A	P24410	753
EXOC8	SNAP25	P13795	726
EXOC8	PIK3C3	Q8NEB9	629
EXOC8	BECN2	A8MW95	618

IntAct

348 interactions, top by confidence:

A	B	Type	Score
EXOC6	EXOC5	psi-mi:“MI:0914”(association)	0.840
EXOC6B	EXOC5	psi-mi:“MI:0914”(association)	0.790
EXOC8	IKZF3	psi-mi:“MI:0915”(physical association)	0.780
IKZF3	EXOC8	psi-mi:“MI:0915”(physical association)	0.780
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
EXOC8	USHBP1	psi-mi:“MI:0915”(physical association)	0.700
KRT19	EXOC8	psi-mi:“MI:0915”(physical association)	0.670
EXOC8	BLOC1S6	psi-mi:“MI:0915”(physical association)	0.670
KRT36	EXOC8	psi-mi:“MI:0915”(physical association)	0.600
KRT31	EXOC8	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	MBIP	psi-mi:“MI:0915”(physical association)	0.560
MBIP	EXOC8	psi-mi:“MI:0915”(physical association)	0.560
CEP57L1	EXOC8	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	ZNF628	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	VPS16	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	ZNF566	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	FAM217B	psi-mi:“MI:0915”(physical association)	0.560
EXOC8	DMAP1	psi-mi:“MI:0915”(physical association)	0.560
ZSCAN4	EXOC8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (237): EXOC8 (Two-hybrid), EXOC8 (Two-hybrid), EXOC8 (Two-hybrid), CEP57L1 (Two-hybrid), EXOC8 (Affinity Capture-MS), EXOC8 (Affinity Capture-MS), EXOC8 (Affinity Capture-MS), EXOC8 (Two-hybrid), EXOC8 (Two-hybrid), EXOC8 (Affinity Capture-MS), EXOC8 (Two-hybrid), EXOC8 (Affinity Capture-MS), EXOC8 (Two-hybrid), EXOC8 (Two-hybrid), EXOC8 (Two-hybrid)

ESM2 similar proteins: A2VDR8, A4IF89, B1AY13, B1WC10, F4HQ84, F4I4B6, F4JHH5, O00471, O15068, O54921, O54924, P0CI65, P83436, P97878, Q14746, Q2TBH9, Q3T1G7, Q3TPX4, Q3UM29, Q5U247, Q5ZJ43, Q62717, Q6DK84, Q6GLR7, Q6NMI3, Q6NUQ1, Q6PGF7, Q7TNH6, Q7Z494, Q80TJ1, Q86UW7, Q8BYR5, Q8BZ36, Q8C0L8, Q8C456, Q8CI04, Q8IYI6, Q8L838, Q8WTW3, Q921L5

Diamond homologs: A4IF89, O54924, Q5U247, Q5ZJ43, Q6PGF7, Q8IYI6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EXOC8	“form complex”	“Exocyst_EXOC6B variant”	binding
EXOC8	“form complex”	“Exocyst_EXOC6 variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
VxPx cargo-targeting to cilium	8	72.8×	2e-11
Insulin processing	7	56.1×	4e-09
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	21.7×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking involved in exocytosis	9	74.9×	4e-13
membrane fission	9	45.7×	4e-11
Golgi to plasma membrane transport	6	41.6×	4e-07
mitotic cytokinesis	8	25.6×	9e-08
exocytosis	9	16.9×	3e-07
intermediate filament organization	5	14.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	81
Likely benign	15
Benign	8

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3769535	NM_175876.5(EXOC8):c.473dup (p.Gln159fs)	Likely pathogenic

SpliceAI

32 predictions. Top by Δscore:

Variant	Effect	Δscore
1:231335590:T:A	donor_gain	0.4600
1:231336564:TAG:T	donor_gain	0.4100
1:231335900:TG:T	acceptor_gain	0.3600
1:231337450:T:A	donor_gain	0.3600
1:231335901:G:GT	acceptor_gain	0.3100
1:231335902:T:TT	acceptor_gain	0.3100
1:231336643:T:TA	donor_gain	0.2900
1:231335621:T:A	donor_gain	0.2800
1:231335890:G:GA	acceptor_gain	0.2800
1:231335879:GT:G	acceptor_gain	0.2700
1:231335880:TT:T	acceptor_gain	0.2700
1:231335881:TT:T	acceptor_gain	0.2700
1:231335884:GT:G	acceptor_gain	0.2600
1:231335893:AC:A	acceptor_gain	0.2600
1:231335894:CC:C	acceptor_gain	0.2600
1:231336462:ACAGG:A	donor_gain	0.2600
1:231336463:CAGGC:C	donor_gain	0.2600
1:231335897:CT:C	acceptor_gain	0.2400
1:231337769:A:AC	donor_gain	0.2400
1:231337770:C:CC	donor_gain	0.2400
1:231335877:C:CC	acceptor_gain	0.2300
1:231335885:T:A	acceptor_gain	0.2300
1:231335236:TCTCA:T	acceptor_gain	0.2100
1:231337076:T:TA	donor_gain	0.2100
1:231335891:C:CA	acceptor_gain	0.2000
1:231335892:A:AA	acceptor_gain	0.2000
1:231335896:AC:A	acceptor_gain	0.2000
1:231335904:A:AG	acceptor_gain	0.2000
1:231336565:A:AC	donor_gain	0.2000
1:231337065:G:GT	acceptor_gain	0.2000

AlphaMissense

4760 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:231336023:A:G	W575R	1.000
1:231336023:A:T	W575R	1.000
1:231336927:C:A	W273C	1.000
1:231336927:C:G	W273C	1.000
1:231336929:A:G	W273R	1.000
1:231336929:A:T	W273R	1.000
1:231336936:T:A	K270N	1.000
1:231336936:T:G	K270N	1.000
1:231336937:T:A	K270I	1.000
1:231336994:A:G	F251S	1.000
1:231337507:A:G	L80P	1.000
1:231337526:C:G	A74P	1.000
1:231337536:G:C	F70L	1.000
1:231337536:G:T	F70L	1.000
1:231337537:A:C	F70C	1.000
1:231337537:A:G	F70S	1.000
1:231337538:A:G	F70L	1.000
1:231337570:A:G	L59P	1.000
1:231335904:A:C	S614R	0.999
1:231335904:A:T	S614R	0.999
1:231335906:T:G	S614R	0.999
1:231336021:C:A	W575C	0.999
1:231336021:C:G	W575C	0.999
1:231336040:C:G	R569P	0.999
1:231336493:A:G	L418P	0.999
1:231336577:A:G	L390P	0.999
1:231336694:C:A	R351I	0.999
1:231336715:A:G	L344P	0.999
1:231336738:C:A	W336C	0.999
1:231336738:C:G	W336C	0.999

dbSNP variants (sampled 300 via entrez): RS1000012705 (1:231338047 T>A,G), RS1000067424 (1:231334781 C>A,G), RS1000655369 (1:231332300 G>A), RS1001046222 (1:231339640 G>A,T), RS1001703399 (1:231332932 T>A,C), RS1002026157 (1:231333640 C>G,T), RS1002997436 (1:231335028 G>A), RS1003890574 (1:231338704 G>T), RS1004749418 (1:231338935 A>G), RS1004782213 (1:231339119 A>G), RS1005337932 (1:231334045 T>C), RS1006196367 (1:231335054 A>G), RS1006235707 (1:231335497 A>G), RS1006502991 (1:231335164 C>G,T), RS1006836494 (1:231333466 A>G)

Disease associations

OMIM: gene MIM:615283 | disease phenotypes: MIM:619076, MIM:213300

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	Strong	Autosomal recessive

Mondo (2): neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (MONDO:0033662), Joubert syndrome (MONDO:0018772)

Orphanet (1): Isolated Joubert syndrome (Orphanet:475)

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000311	Round face
HP:0000508	Ptosis
HP:0000527	Long eyelashes
HP:0000543	Optic disc pallor
HP:0000577	Exotropia
HP:0000737	Irritability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001276	Hypertonia
HP:0001324	Muscle weakness
HP:0001347	Hyperreflexia
HP:0001363	Craniosynostosis
HP:0001371	Flexion contracture
HP:0002079	Hypoplasia of the corpus callosum
HP:0002188	Delayed CNS myelination
HP:0002190	Choroid plexus cyst
HP:0002521	Hypsarrhythmia
HP:0011344	Severe global developmental delay
HP:0011421	Death in adolescence
HP:0012444	Brain atrophy
HP:0025190	Bilateral tonic-clonic seizure with generalized onset
HP:0032794	Myoclonic seizure

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004615_86	Hemoglobin concentration	4.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression, decreases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
bisphenol S	increases expression, affects cotreatment	2
Arsenic	affects expression, affects cotreatment, increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	affects expression	1
tetrahydropalmatine	decreases expression	1
arsenite	increases methylation	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
bisphenol AF	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Quercetin	decreases expression	1
Rotenone	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_1G16	PA107	Cancer cell line	Sex unspecified

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)