CENPQ

Summary

CENPQ (centromere protein Q, HGNC:21347) is a protein-coding gene on chromosome 6p12.3, encoding Centromere protein Q (Q7L2Z9). Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).

Source: NCBI Gene 55166 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_018132

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21347
Approved symbol	CENPQ
Name	centromere protein Q
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10545, CENP-Q
Ensembl gene	ENSG00000031691
Ensembl biotype	protein_coding
OMIM	611506
Entrez	55166

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000335783, ENST00000868052, ENST00000935104, ENST00000935105, ENST00000954363, ENST00000954364

RefSeq mRNA: 1 — MANE Select: NM_018132 NM_018132

CCDS: CCDS4925

Canonical transcript exons

ENST00000335783 — 9 exons

Exon	Start	End
ENSE00000850431	49480951	49481080
ENSE00001138995	49488607	49488684
ENSE00001139000	49488352	49488471
ENSE00001214263	49472790	49472858
ENSE00001214271	49472063	49472183
ENSE00001214281	49470974	49471028
ENSE00001214291	49470159	49470278
ENSE00001214302	49463370	49463453
ENSE00001346992	49492144	49493107

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 91.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7571 / max 387.1359, expressed in 1632 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68180	10.4058	1613
68179	0.3512	146

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.72	gold quality
ventricular zone	UBERON:0003053	89.08	gold quality
secondary oocyte	CL:0000655	85.46	gold quality
ganglionic eminence	UBERON:0004023	84.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.16	gold quality
calcaneal tendon	UBERON:0003701	83.75	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.05	gold quality
islet of Langerhans	UBERON:0000006	79.14	gold quality
spinal cord	UBERON:0002240	78.07	gold quality
monocyte	CL:0000576	77.87	gold quality
mononuclear cell	CL:0000842	77.61	gold quality
leukocyte	CL:0000738	77.36	gold quality
amniotic fluid	UBERON:0000173	77.11	gold quality
stromal cell of endometrium	CL:0002255	76.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	76.27	gold quality
embryo	UBERON:0000922	75.83	gold quality
rectum	UBERON:0001052	75.72	gold quality
lower esophagus mucosa	UBERON:0035834	75.16	gold quality
adrenal tissue	UBERON:0018303	75.12	gold quality
muscle of leg	UBERON:0001383	74.59	gold quality
gastrocnemius	UBERON:0001388	74.50	gold quality
left ovary	UBERON:0002119	74.13	gold quality
right adrenal gland cortex	UBERON:0035827	74.01	gold quality
right adrenal gland	UBERON:0001233	73.68	gold quality
right atrium auricular region	UBERON:0006631	73.63	gold quality
oocyte	CL:0000023	73.12	gold quality
heart left ventricle	UBERON:0002084	72.98	gold quality
descending thoracic aorta	UBERON:0002345	72.96	gold quality
omental fat pad	UBERON:0010414	72.92	gold quality
left adrenal gland	UBERON:0001234	72.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting CENPQ, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
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-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4307	99.82	70.45	3374

Literature-anchored findings (GeneRIF, showing 4)

• Mammalian polo-like kinase 1-dependent regulation of the PBIP1-CENP-Q complex at kinetochores. (PMID:21454580)
• Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment. (PMID:23028590)
• CENP-Q - a subunit of the CENP-O complex (comprising CENP-O, CENP-P, CENP-Q and CENP-U) that targets polo-like kinase (Plk1) to kinetochores - is also required for the recruitment of CENP-E to kinetochores. (PMID:25395579)
• Plk1 regulates the timing of the delocalization and ultimate destruction of the PBIP1.CENP-Q complex. (PMID:25670858)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cenpq	ENSMUSG00000023919
rattus_norvegicus	Cenpq	ENSRNOG00000056226

Protein

Protein identifiers

Centromere protein Q — Q7L2Z9 (reviewed: Q7L2Z9)

All UniProt accessions (1): Q7L2Z9

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores.

Subunit / interactions. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.

Subcellular location. Nucleus. Chromosome. Centromere.

Post-translational modifications. Phosphorylation at Ser-50 is essential for CENPE recruitment to kinetochores and orderly chromosome congression.

Similarity. Belongs to the CENP-Q/OKP1 family.

RefSeq proteins (1): NP_060602* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025212	CAD_CENP-Q	Family

Pfam: PF13094

UniProt features (20 total): helix 8, modified residue 3, mutagenesis site 2, sequence variant 2, chain 1, region of interest 1, strand 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7PKN	ELECTRON MICROSCOPY	3.2
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7PB8	X-RAY DIFFRACTION	3.68
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
7R5V	ELECTRON MICROSCOPY	4.55
7QOO	ELECTRON MICROSCOPY	4.6
7YYH	ELECTRON MICROSCOPY	8.9
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L2Z9-F1	73.48	0.40

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 (3): 31, 50, 249

Mutagenesis-validated functional residues (2):

Position	Phenotype
50	no loss of the recruitment cenpe to kinetochores.
50	abolishes the recruitment cenpe to kinetochores but has no effect on recruitment of plk1 to knetochores.

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-69618	Mitotic Spindle Checkpoint
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 182 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, FISCHER_G1_S_CELL_CYCLE, GOBP_CHROMOSOME_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, KONG_E2F3_TARGETS, PATIL_LIVER_CANCER, MODULE_205, chr6p12, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME_CENTROMERIC_REGION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, FISCHER_DREAM_TARGETS, GOBP_ORGANELLE_LOCALIZATION

GO Biological Process (3): chromosome segregation (GO:0007059), metaphase chromosome alignment (GO:0051310), positive regulation of protein localization to kinetochore (GO:1905342)

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

GO Cellular Component (7): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cell Cycle	3
Mitotic Prometaphase	2
M Phase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
Nucleosome assembly	1
Mitotic Spindle Checkpoint	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1
Cell Cycle Checkpoints	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cell cycle process	1
chromosome localization	1
nuclear chromosome segregation	1
protein localization to kinetochore	1
positive regulation of protein localization	1
regulation of protein localization to kinetochore	1
binding	1
kinetochore	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
cytoskeleton	1
chromosomal region	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

860 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPQ	CENPU	Q71F23	998
CENPQ	CENPP	Q6IPU0	998
CENPQ	CENPO	Q9BU64	997
CENPQ	ITGB3BP	Q13352	980
CENPQ	CENPL	Q8N0S6	971
CENPQ	CENPH	Q9H3R5	964
CENPQ	CENPK	Q9BS16	964
CENPQ	CENPI	Q92674	963
CENPQ	CENPN	Q96H22	952
CENPQ	CENPM	Q9NSP4	943
CENPQ	CENPT	Q96BT3	937
CENPQ	CENPS	Q8N2Z9	922
CENPQ	CENPA	P49450	895
CENPQ	CENPC	Q03188	866
CENPQ	CENPW	Q5EE01	830

IntAct

74 interactions, top by confidence:

A	B	Type	Score
ITGB3BP	CENPU	psi-mi:“MI:0914”(association)	0.710
CENPQ	HOMER1	psi-mi:“MI:0915”(physical association)	0.700
ATF2	CENPQ	psi-mi:“MI:0915”(physical association)	0.670
CCDC6	CENPQ	psi-mi:“MI:0915”(physical association)	0.670
CENPU	CENPQ	psi-mi:“MI:0915”(physical association)	0.620
HDAC7	CENPQ	psi-mi:“MI:0915”(physical association)	0.560
CENPQ	ABI2	psi-mi:“MI:0915”(physical association)	0.560
CENPQ	SIKE1	psi-mi:“MI:0915”(physical association)	0.560
CENPQ	HDAC7	psi-mi:“MI:0915”(physical association)	0.560
CENPQ	ABI3	psi-mi:“MI:0915”(physical association)	0.560
CENPQ	EMILIN1	psi-mi:“MI:0915”(physical association)	0.560
AARD	CENPQ	psi-mi:“MI:0915”(physical association)	0.560
SNX2	CENPQ	psi-mi:“MI:0915”(physical association)	0.560
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
CENPH	ITGB3BP	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530
CENPP	ITGB3BP	psi-mi:“MI:0914”(association)	0.530
RPL7A	NVL	psi-mi:“MI:0914”(association)	0.530
ITGB3BP	CENPP	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
BRME1	CENPQ	psi-mi:“MI:0915”(physical association)	0.490
CENPQ	CANX	psi-mi:“MI:0915”(physical association)	0.400
CENPQ	H1-5	psi-mi:“MI:0915”(physical association)	0.400
ITGB3BP	CENPQ	psi-mi:“MI:0915”(physical association)	0.400
KDM1A	CENPQ	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (144): CENPQ (Affinity Capture-MS), CENPQ (Affinity Capture-MS), CENPQ (Affinity Capture-MS), CENPC (Affinity Capture-MS), CENPI (Affinity Capture-MS), RPL10A (Affinity Capture-MS), RPL9 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPS11 (Affinity Capture-MS), RPS14 (Affinity Capture-MS), RPS16 (Affinity Capture-MS), ZFX (Affinity Capture-MS), HIST1H4A (Affinity Capture-MS), CDC42BPA (Affinity Capture-MS), SEC24C (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A2AHC3, A2AIW0, A5D8S0, A5WUN7, A8PUI7, B0BM16, B1H1S4, B2GUZ2, B7ZS37, D3IUT5, D3Z8E6, D4AEC2, F1QB81, F1R983, P53995, Q08AD1, Q0VF22, Q13129, Q16533, Q2KHM9, Q2T9I9, Q49A88, Q4R815, Q58EL7, Q5CZC0, Q5RHB5, Q5T5Y3, Q66H35, Q6DJL7, Q6DRL4, Q6IRN6, Q6PUR7, Q7L2Z9, Q7Z4H7, Q8C263, Q8CGZ2, Q8CJ27

Diamond homologs: Q1T764, Q4R7G2, Q66H02, Q7L2Z9, Q9CPQ5

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
CENPQ	“form complex”	“CCAN complex”	binding
PLK1	“down-regulates quantity by destabilization”	CENPQ	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 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
Nucleosome assembly	6	75.1×	4e-08
Chromosome Maintenance	6	33.4×	3e-06
Amplification of signal from the kinetochores	5	25.9×	2e-05
Deposition of new CENPA-containing nucleosomes at the centromere	6	25.0×	7e-06
Mitotic Spindle Checkpoint	5	20.9×	5e-05
Response of EIF2AK4 (GCN2) to amino acid deficiency	7	20.4×	4e-06
Peptide chain elongation	6	20.0×	2e-05
Viral mRNA Translation	6	20.0×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	6	22.7×	6e-05
chromosome segregation	6	21.3×	6e-05
translation	6	12.6×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1027 predictions. Top by Δscore:

Variant	Effect	Δscore
6:49470255:G:GT	donor_gain	1.0000
6:49470972:A:AC	acceptor_loss	1.0000
6:49470973:GGTTA:G	acceptor_gain	1.0000
6:49471025:GAAGG:G	donor_loss	1.0000
6:49471026:AAG:A	donor_loss	1.0000
6:49471027:AGGTA:A	donor_loss	1.0000
6:49471028:GG:G	donor_loss	1.0000
6:49471029:G:GA	donor_loss	1.0000
6:49471030:T:G	donor_loss	1.0000
6:49472055:A:AG	acceptor_gain	1.0000
6:49472055:AAC:A	acceptor_gain	1.0000
6:49472056:A:G	acceptor_gain	1.0000
6:49472057:C:CA	acceptor_gain	1.0000
6:49472059:ACAGG:A	acceptor_loss	1.0000
6:49472060:CAG:C	acceptor_loss	1.0000
6:49472061:A:AG	acceptor_gain	1.0000
6:49472062:G:GG	acceptor_gain	1.0000
6:49472180:TAAT:T	donor_gain	1.0000
6:49472180:TAATG:T	donor_loss	1.0000
6:49472181:AAT:A	donor_gain	1.0000
6:49472182:AT:A	donor_gain	1.0000
6:49472184:G:GG	donor_gain	1.0000
6:49472786:CTAG:C	acceptor_loss	1.0000
6:49472787:TAG:T	acceptor_loss	1.0000
6:49472788:A:AG	acceptor_gain	1.0000
6:49472788:AG:A	acceptor_gain	1.0000
6:49472789:G:GG	acceptor_gain	1.0000
6:49472789:GG:G	acceptor_gain	1.0000
6:49472789:GGA:G	acceptor_gain	1.0000
6:49472789:GGAC:G	acceptor_gain	1.0000

AlphaMissense

1786 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:49472840:T:C	L110P	0.955
6:49492249:G:C	A261P	0.934
6:49488410:T:C	L179P	0.910
6:49472849:T:C	L113P	0.898
6:49472853:G:C	K114N	0.882
6:49472853:G:T	K114N	0.882
6:49481076:T:C	L158P	0.843
6:49472156:T:C	L84S	0.842
6:49480953:T:C	L117S	0.842
6:49472122:T:A	W73R	0.831
6:49472122:T:C	W73R	0.831
6:49472840:T:A	L110H	0.816
6:49480956:T:C	L118P	0.805
6:49472840:T:G	L110R	0.803
6:49492237:T:C	F257L	0.798
6:49492239:C:A	F257L	0.798
6:49492239:C:G	F257L	0.798
6:49480964:T:C	C121R	0.781
6:49488431:T:C	L186P	0.769
6:49472132:T:G	L76R	0.759
6:49481079:A:C	Q159P	0.753
6:49472124:G:C	W73C	0.746
6:49472124:G:T	W73C	0.746
6:49472132:T:A	L76Q	0.743
6:49480974:T:C	L124P	0.729
6:49481067:T:C	L155P	0.724
6:49472852:A:C	K114T	0.722
6:49492202:T:C	L245P	0.720
6:49492250:C:A	A261D	0.712
6:49492238:T:C	F257S	0.706

dbSNP variants (sampled 300 via entrez): RS1000381259 (6:49478862 T>C), RS1000518085 (6:49463222 C>T), RS1000570197 (6:49463383 C>A,T), RS1000602155 (6:49485458 T>C), RS1000670463 (6:49484016 ACTAT>A), RS1000757197 (6:49469717 T>C), RS1000854718 (6:49468680 T>C), RS1000866892 (6:49483604 C>T), RS1000885825 (6:49468528 A>G), RS1000923365 (6:49477736 C>T), RS1001035108 (6:49485305 A>G), RS1001145467 (6:49469452 G>A,C), RS1001184272 (6:49470339 C>T), RS1001323823 (6:49475028 C>CA), RS1001348881 (6:49463899 A>G)

Disease associations

OMIM: gene MIM:611506 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002396_326	Mean reticulocyte volume	1.000000e-10
GCST90002397_150	Mean spheric corpuscular volume	8.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	3
trichostatin A	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Tretinoin	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
urushiol	increases expression	1
kojic acid	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
corosolic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	increases expression	1
excavatolide B	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	increases expression	1
Coumestrol	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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