UBXN2A

Summary

UBXN2A (UBX domain protein 2A, HGNC:27265) is a protein-coding gene on chromosome 2p23.3, encoding UBX domain-containing protein 2A (P68543). Acts to repress the ubiquitination and subsequent endoplasmic reticulum-associated degradation of CHRNA3 by the STUB1-VCP-UBXN2A complex in cortical neurons.

Predicted to enable ubiquitin binding activity. Involved in negative regulation of ERAD pathway and positive regulation of protein catabolic process. Located in cytoplasm and nucleus.

Source: NCBI Gene 165324 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_181713

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27265
Approved symbol	UBXN2A
Name	UBX domain protein 2A
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173960
Ensembl biotype	protein_coding
Entrez	165324

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 25 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000309033, ENST00000404924, ENST00000446425, ENST00000479859, ENST00000906993, ENST00000906994, ENST00000906995, ENST00000906996, ENST00000906997, ENST00000906998, ENST00000906999, ENST00000907000, ENST00000907001, ENST00000907002, ENST00000907003, ENST00000912493, ENST00000912494, ENST00000912495, ENST00000912496, ENST00000912497, ENST00000912498, ENST00000912499, ENST00000912500, ENST00000951750, ENST00000951751, ENST00000951752, ENST00000951753

RefSeq mRNA: 1 — MANE Select: NM_181713 NM_181713

CCDS: CCDS1704

Canonical transcript exons

ENST00000309033 — 7 exons

Exon	Start	End
ENSE00001183141	23999672	24004909
ENSE00001273594	23940463	23940648
ENSE00003548405	23984673	23984831
ENSE00003572153	23958301	23958355
ENSE00003620399	23976969	23977075
ENSE00003645686	23971276	23971414
ENSE00003674778	23982896	23983033

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5202 / max 187.9243, expressed in 1817 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19163	20.6524	1812
19161	3.6545	1399
19164	1.4917	961
19162	0.7215	430

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	99.59	gold quality
pancreatic ductal cell	CL:0002079	99.52	gold quality
renal medulla	UBERON:0000362	99.26	gold quality
lateral globus pallidus	UBERON:0002476	99.20	gold quality
cardia of stomach	UBERON:0001162	99.13	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.09	gold quality
superior surface of tongue	UBERON:0007371	99.08	gold quality
trigeminal ganglion	UBERON:0001675	99.03	gold quality
pylorus	UBERON:0001166	99.02	gold quality
medulla oblongata	UBERON:0001896	99.01	gold quality
nipple	UBERON:0002030	98.99	gold quality
substantia nigra pars compacta	UBERON:0001965	98.97	gold quality
ventral tegmental area	UBERON:0002691	98.97	gold quality
trachea	UBERON:0003126	98.96	gold quality
subthalamic nucleus	UBERON:0001906	98.94	gold quality
superior vestibular nucleus	UBERON:0007227	98.94	gold quality
inferior vagus X ganglion	UBERON:0005363	98.90	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.88	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.76	gold quality
dorsal root ganglion	UBERON:0000044	98.74	gold quality
tongue	UBERON:0001723	98.51	gold quality
sperm	CL:0000019	98.44	gold quality
pericardium	UBERON:0002407	98.41	gold quality
pharyngeal mucosa	UBERON:0000355	98.37	gold quality
body of tongue	UBERON:0011876	98.26	gold quality
kidney epithelium	UBERON:0004819	98.24	gold quality
urethra	UBERON:0000057	98.22	gold quality
superficial temporal artery	UBERON:0001614	98.20	gold quality
layer of synovial tissue	UBERON:0007616	98.09	gold quality
saphenous vein	UBERON:0007318	98.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting UBXN2A, 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-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548J-3P	99.94	72.61	4881
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-5680	99.91	69.83	3421
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-3609	99.52	69.89	2587

Literature-anchored findings (GeneRIF, showing 7)

• Ubx2 and Ubxd8 regulates lipid droplet homeostasis. (PMID:22454508)
• Suggest UBXN2A can reconstitute inactive p53-dependent apoptotic pathways in colonic neoplasms. (PMID:24625977)
• veratridine enhances transactivation of UBXN2A, resulting in upregulation of UBXN2A in the cytoplasm, where UBXN2A binds and inhibits the oncoprotein mortalin-2 (PMID:26188124)
• UBXN2A binds to mortalin’s binding pocket within the substrate-binding domain of mortalin. UBXN2A increases stability of p53 protein targeted by the mortalin-CHIP E3 ubiquitin ligase. (PMID:26634371)
• The existence of a multiprotein complex containing UBXN2A, CHIP, and mot-2 suggests a synergistic tumor suppressor activity of UBXN2A and CHIP in mot-2-enriched tumors. (PMID:30107089)
• UBXN2A, a Ubiquitin-Like Protein, Alters Proteins in mTORC2 Pathway. (PMID:36889268)
• UBXN2A suppresses the Rictor-mTORC2 signaling pathway, an established tumorigenic pathway in human colorectal cancer. (PMID:37037900)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubxn2a	ENSDARG00000087180
mus_musculus	Ubxn2a	ENSMUSG00000020634
rattus_norvegicus	LOC100910099	ENSRNOG00000065514
rattus_norvegicus	Ubxn2a	ENSRNOG00000068687

Paralogs (3): NSFL1C (ENSG00000088833), UBXN11 (ENSG00000158062), UBXN2B (ENSG00000215114)

Protein

Protein identifiers

UBX domain-containing protein 2A — P68543 (reviewed: P68543)

Alternative names: UBX domain-containing protein 4

All UniProt accessions (1): P68543

UniProt curated annotations — full annotation on UniProt →

Function. Acts to repress the ubiquitination and subsequent endoplasmic reticulum-associated degradation of CHRNA3 by the STUB1-VCP-UBXN2A complex in cortical neurons. Also acts to promote the translocation of CHRNA3 to the plasma membrane and subsequently increases plasma membrane acetylcholine-gated ion-channel activation. Plays a role in the inhibition of STUB1-mediated TP53 degradation, via its interaction with HSPA9 which acts to inhibit TP53 binding to HSPA9. Positively mediates the ubiquitination and proteosomal degradation of RICTOR, may thereby act as a negative regulator of the mTORC2 pathway.

Subunit / interactions. Part of a complex composed of STUB1/CHIP, VCP/p97, CHRNA3, and UBXN2A that modulates the ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of CHRNA3. Within the complex UBXN2A acts as a scaffold protein required for the interaction of CHRNA3 with VCP/p97, this interaction also inhibits CHRNA3 ubiquitination by STUB1/CHIP and subsequently ERAD. Interacts (via SEP domain) with CHRNA3 and interacts (via UBX domain) with VCP/P97; these interactions are required for the interaction of CHRNA3 with the STUB1-VCP-UBXN2A complex. Interacts with HSPA9/MOT-2 (via SBD domain); the interaction inhibits HSPA9/MOT-2 interaction with and degradation of p53, thereby promotes p53 translocation to the nucleus. Interacts with RICTOR.

Subcellular location. Golgi apparatus. Endoplasmic reticulum. Perikaryon. Cell projection. Dendrite. Nucleus. Cytoplasm.

Tissue specificity. Expressed in the colon (at protein level).

Post-translational modifications. Ubiquitinated.

Miscellaneous. Acts as a tumor suppressor in cancer cells via stabilization of TP53 and subsequent promotion of TP53-mediated apoptosis. Acts as a tumor suppressor in colorectal cancer by repressing cell migration, growth, tumor dedifferentiation and cancer stem cell populations. May act as a biomarker of positive survival outcome in both colon and rectal adenocarcinoma patients.

Isoforms (2)

UniProt ID	Names	Canonical?
P68543-1	1	yes
P68543-2	2

RefSeq proteins (1): NP_859064* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001012	UBX_dom	Domain
IPR012989	SEP_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR036241	NSFL1C_SEP_dom_sf	Homologous_superfamily

Pfam: PF00789, PF08059

UniProt features (7 total): region of interest 3, domain 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P68543-F1	73.68	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, HORIUCHI_WTAP_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_VACUOLE_ORGANIZATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_MEMBRANE_BIOGENESIS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_MEMBRANE_FUSION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR

GO Biological Process (12): autophagosome assembly (GO:0000045), Golgi organization (GO:0007030), regulation of protein ubiquitination (GO:0031396), nuclear membrane reassembly (GO:0031468), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of protein catabolic process (GO:0045732), negative regulation of proteolysis (GO:0045861), membrane fusion (GO:0061025), negative regulation of ERAD pathway (GO:1904293), cellular response to leukemia inhibitory factor (GO:1990830), regulation of protein catabolic process (GO:0042176), regulation of macromolecule metabolic process (GO:0060255)

GO Molecular Function (3): acetylcholine receptor binding (GO:0033130), ubiquitin binding (GO:0043130), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), cytosol (GO:0005829), dendrite (GO:0030425), perikaryon (GO:0043204), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	4
cellular anatomical structure	4
cytoplasm	3
protein catabolic process	2
endomembrane system	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
organelle organization	1
endomembrane system organization	1
protein ubiquitination	1
regulation of protein modification by small protein conjugation or removal	1
membrane assembly	1
nuclear membrane organization	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
positive regulation of catabolic process	1
regulation of protein catabolic process	1
positive regulation of protein metabolic process	1
proteolysis	1
regulation of proteolysis	1
negative regulation of protein metabolic process	1
membrane organization	1
ERAD pathway	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of response to endoplasmic reticulum stress	1
regulation of ERAD pathway	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
regulation of catabolic process	1
regulation of protein metabolic process	1
regulation of metabolic process	1
macromolecule metabolic process	1
signaling receptor binding	1
ubiquitin-like protein binding	1
binding	1

Protein interactions and networks

STRING

566 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBXN2A	UBXN6	Q9BZV1	731
UBXN2A	UBXN7	O94888	710
UBXN2A	UBXN10	Q96LJ8	666
UBXN2A	ST13	P50502	651
UBXN2A	UBXN8	O00124	647
UBXN2A	UBXN11	Q5T124	646
UBXN2A	UBXN1	Q04323	615
UBXN2A	AMFR	P26442	593
UBXN2A	SVIP	Q8NHG7	588
UBXN2A	VCP	P55072	581
UBXN2A	STUB1	Q9UNE7	579
UBXN2A	ASPSCR1	Q9BZE9	555
UBXN2A	UBXN4	Q92575	542
UBXN2A	FAF2	Q96CS3	528
UBXN2A	FAF1	Q9UNN5	496

IntAct

43 interactions, top by confidence:

A	B	Type	Score
UBXN2A	VCP	psi-mi:“MI:2364”(proximity)	0.940
VCP	UBXN2A	psi-mi:“MI:2364”(proximity)	0.940
UBXN2A	VCP	psi-mi:“MI:0915”(physical association)	0.940
VCP	UBXN2A	psi-mi:“MI:0915”(physical association)	0.940
UBXN2A	VCP	psi-mi:“MI:0914”(association)	0.940
UBXN2A	UBXN6	psi-mi:“MI:0915”(physical association)	0.740
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
UBXN2A	DYDC2	psi-mi:“MI:0915”(physical association)	0.560
UBXN2A	PPP1R11	psi-mi:“MI:0914”(association)	0.530
VCPIP1	VCP	psi-mi:“MI:0914”(association)	0.530
DBI	UBXN2A	psi-mi:“MI:0915”(physical association)	0.370
UBXN2A	PHAX	psi-mi:“MI:0915”(physical association)	0.370
UBXN2A		psi-mi:“MI:0915”(physical association)	0.370
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYH11	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Uso1	SLC30A6	psi-mi:“MI:0914”(association)	0.350
PPP1CB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), UBXN2A (Affinity Capture-Western), HSPA9 (Two-hybrid), HSPA9 (Affinity Capture-Western), VCP (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), LACTB (Affinity Capture-MS)

ESM2 similar proteins: A3KMI0, A8WZU5, A8XY47, A8XYX3, B3M268, D3ZID8, O14045, O15226, O42467, O49413, O59709, O93436, O94536, P0C627, P32524, P32783, P34223, P34511, P68543, P87143, P90740, Q09655, Q0KL01, Q0P3R5, Q14CS0, Q19546, Q23088, Q23541, Q3SWY8, Q5ZLK2, Q61T02, Q6CKI0, Q6P158, Q7Z478, Q8BY02, Q8STL3, Q8WT44, Q8WTJ4, Q96AP4, Q99KJ0

Diamond homologs: D3ZID8, O35987, P0C627, P34223, P68543, Q0KL01, Q0P3R5, Q14CS0, Q3SZC4, Q5RBG3, Q5ZK10, Q5ZLK2, Q7Y175, Q8RWU7, Q99KJ0, Q9CZ44, Q9SUG6, Q9UNZ2, Q9UT81, P0C8Q0, Q54BQ5, Q9N2W5, F4IXN6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1530 predictions. Top by Δscore:

Variant	Effect	Δscore
2:23958288:T:A	acceptor_gain	1.0000
2:23958291:A:AG	acceptor_gain	1.0000
2:23958292:C:G	acceptor_gain	1.0000
2:23958298:CAGT:C	acceptor_loss	1.0000
2:23958299:A:AG	acceptor_gain	1.0000
2:23958299:A:AT	acceptor_loss	1.0000
2:23958300:G:GC	acceptor_gain	1.0000
2:23958300:GT:G	acceptor_gain	1.0000
2:23958300:GTA:G	acceptor_gain	1.0000
2:23958300:GTAA:G	acceptor_gain	1.0000
2:23958351:GAATG:G	donor_gain	1.0000
2:23958352:AATGG:A	donor_loss	1.0000
2:23958354:TGGTA:T	donor_loss	1.0000
2:23958355:GGTAA:G	donor_loss	1.0000
2:23958356:G:A	donor_loss	1.0000
2:23958356:G:GG	donor_gain	1.0000
2:23958357:T:TC	donor_loss	1.0000
2:23971274:AG:A	acceptor_gain	1.0000
2:23971275:GG:G	acceptor_gain	1.0000
2:23976958:C:G	acceptor_gain	1.0000
2:23976959:T:A	acceptor_gain	1.0000
2:23976967:A:AG	acceptor_gain	1.0000
2:23976968:G:GC	acceptor_loss	1.0000
2:23976968:G:GG	acceptor_gain	1.0000
2:23976968:GGT:G	acceptor_gain	1.0000
2:23976968:GGTA:G	acceptor_gain	1.0000
2:23977071:AAGGG:A	donor_gain	1.0000
2:23977072:AGGG:A	donor_gain	1.0000
2:23977073:GGG:G	donor_gain	1.0000
2:23977073:GGGG:G	donor_gain	1.0000

AlphaMissense

1730 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:23977002:T:C	F72L	0.996
2:23977003:T:C	F72S	0.996
2:23977004:C:A	F72L	0.996
2:23977004:C:G	F72L	0.996
2:23983005:T:C	F133L	0.996
2:23983007:T:A	F133L	0.996
2:23983007:T:G	F133L	0.996
2:23976990:T:A	W68R	0.992
2:23976990:T:C	W68R	0.992
2:23982946:T:A	V113D	0.991
2:23977053:T:C	F89L	0.990
2:23977054:T:C	F89S	0.990
2:23977055:T:A	F89L	0.990
2:23977055:T:G	F89L	0.990
2:23976988:T:C	L67S	0.989
2:23977000:G:A	G71E	0.989
2:23976982:T:A	I65K	0.988
2:23982904:C:G	P99R	0.988
2:23984816:T:C	F190S	0.988
2:23976982:T:C	I65T	0.985
2:23977066:T:A	I93N	0.984
2:23982904:C:A	P99H	0.984
2:23977062:T:C	S92P	0.982
2:23983006:T:C	F133S	0.982
2:23976982:T:G	I65R	0.981
2:23977009:T:A	V74D	0.981
2:23983018:G:A	G137D	0.981
2:23984780:T:G	I178S	0.981
2:23982952:T:A	V115D	0.980
2:23983030:G:A	G141E	0.980

dbSNP variants (sampled 300 via entrez): RS1000015619 (2:23931162 G>A,T), RS1000069667 (2:23985253 T>G), RS1000123154 (2:23985544 G>A), RS1000128894 (2:23975224 C>T), RS1000180223 (2:23936069 TAATA>T), RS1000198959 (2:23978669 GA>G), RS1000217360 (2:23926867 G>A,C,T), RS1000220683 (2:23982244 G>A), RS1000235082 (2:23949734 G>A), RS1000286196 (2:23936909 C>G,T), RS1000293302 (2:23942454 C>A,G,T), RS1000324213 (2:23942589 T>C), RS1000337189 (2:23972163 T>C), RS1000372286 (2:23929891 CTTTA>C,CTTTATTTA), RS1000431595 (2:23973602 A>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000337_33	Quantitative traits	6.000000e-06
GCST000982_3	F-cell distribution in sickle cell anaemia	8.000000e-06
GCST001762_400	Obesity-related traits	3.000000e-06
GCST004611_6	High light scatter reticulocyte count	2.000000e-51
GCST004612_163	High light scatter reticulocyte percentage of red cells	3.000000e-60
GCST004619_86	Reticulocyte fraction of red cells	3.000000e-44
GCST004622_147	Reticulocyte count	2.000000e-32
GCST004628_141	Immature fraction of reticulocytes	4.000000e-46
GCST006804_189	Red cell distribution width	3.000000e-08
GCST006922_5	Regular attendance at a religious group	8.000000e-09
GCST007292_11	Diabetic retinopathy (all NPDR and PDR)	8.000000e-06
GCST007576_175	Chronotype	7.000000e-13
GCST010083_252	Hemoglobin levels	1.000000e-10
GCST90002386_234	High light scatter reticulocyte percentage of red cells	4.000000e-94
GCST90002389_102	Lymphocyte percentage of white cells	2.000000e-18
GCST90002392_265	Mean corpuscular volume	6.000000e-11
GCST90002394_112	Monocyte percentage of white cells	7.000000e-26
GCST90002397_792	Mean spheric corpuscular volume	2.000000e-25
GCST90002400_556	Plateletcrit	5.000000e-23
GCST90002404_11	Red cell distribution width	1.000000e-12
GCST90002405_110	Reticulocyte count	1.000000e-51
GCST90002406_5	Reticulocyte fraction of red cells	3.000000e-68

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004576	fetal hemoglobin measurement
EFO:0004730	hormone measurement
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0009592	social interaction measurement
EFO:0008328	chronotype measurement
EFO:0004509	hemoglobin measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007989	monocyte percentage of leukocytes
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, increases expression	1
arsenite	affects binding, increases reaction	1
zinc protoporphyrin	affects cotreatment, increases expression	1
sodium arsenite	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
pinosylvin	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
jinfukang	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Phthalic Acids	increases methylation	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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