RAI14

Summary

RAI14 (retinoic acid induced 14, HGNC:14873) is a protein-coding gene on chromosome 5p13.2, encoding Ankycorbin (Q9P0K7). Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis.

Predicted to enable actin binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Located in cytosol; fibrillar center; and nucleoplasm.

Source: NCBI Gene 26064 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 145 total
• MANE Select transcript: NM_015577

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14873
Approved symbol	RAI14
Name	retinoic acid induced 14
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Aliases	NORPEG, KIAA1334, RAI13, DKFZp564G013
Ensembl gene	ENSG00000039560
Ensembl biotype	protein_coding
OMIM	606586
Entrez	26064

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 19 protein_coding, 5 protein_coding_CDS_not_defined, 5 retained_intron, 4 nonsense_mediated_decay

ENST00000265109, ENST00000428746, ENST00000502736, ENST00000503222, ENST00000503673, ENST00000504052, ENST00000505185, ENST00000506376, ENST00000507276, ENST00000507502, ENST00000507883, ENST00000508315, ENST00000508777, ENST00000509247, ENST00000510319, ENST00000510386, ENST00000511652, ENST00000512305, ENST00000512625, ENST00000512629, ENST00000513772, ENST00000513974, ENST00000514036, ENST00000514527, ENST00000514873, ENST00000514931, ENST00000515448, ENST00000515799, ENST00000902575, ENST00000902576, ENST00000957306, ENST00000957307, ENST00000957308

RefSeq mRNA: 6 — MANE Select: NM_015577 NM_001145520, NM_001145521, NM_001145522, NM_001145523, NM_001145525, NM_015577

CCDS: CCDS34142, CCDS54837, CCDS54838, CCDS54839

Canonical transcript exons

ENST00000265109 — 18 exons

Exon	Start	End
ENSE00000971322	34821732	34821850
ENSE00001702136	34826330	34826479
ENSE00002055425	34830688	34832612
ENSE00002074623	34656328	34656475
ENSE00002200991	34822956	34824491
ENSE00003518579	34829732	34829797
ENSE00003548648	34807800	34807857
ENSE00003554332	34811012	34811118
ENSE00003581437	34686872	34686955
ENSE00003584883	34813574	34813660
ENSE00003600231	34795939	34796027
ENSE00003601390	34814583	34814669
ENSE00003611033	34757468	34757598
ENSE00003649677	34811767	34811945
ENSE00003678115	34818797	34818851
ENSE00003683881	34812180	34812208
ENSE00003785602	34803712	34803776
ENSE00003789021	34808584	34808654

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 97.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7540 / max 261.8050, expressed in 1607 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56067	12.8092	1497
56066	6.2778	1395
56068	2.9270	1052
56065	1.5733	984
56064	1.2509	771
56063	0.8005	537
56070	0.5629	194
56069	0.3843	188
56071	0.1243	48
56074	0.0338	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.81	gold quality
visceral pleura	UBERON:0002401	96.82	gold quality
ventricular zone	UBERON:0003053	96.24	gold quality
smooth muscle tissue	UBERON:0001135	96.23	gold quality
placenta	UBERON:0001987	96.20	gold quality
decidua	UBERON:0002450	96.00	gold quality
renal glomerulus	UBERON:0000074	95.96	gold quality
amniotic fluid	UBERON:0000173	95.93	gold quality
blood vessel layer	UBERON:0004797	95.70	gold quality
metanephric glomerulus	UBERON:0004736	95.62	gold quality
myometrium	UBERON:0001296	95.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.02	gold quality
cauda epididymis	UBERON:0004360	94.74	gold quality
ganglionic eminence	UBERON:0004023	94.65	gold quality
seminal vesicle	UBERON:0000998	94.17	gold quality
oocyte	CL:0000023	93.71	gold quality
secondary oocyte	CL:0000655	93.64	gold quality
pigmented layer of retina	UBERON:0001782	93.55	gold quality
retina	UBERON:0000966	93.53	gold quality
embryo	UBERON:0000922	93.39	gold quality
sural nerve	UBERON:0015488	93.07	gold quality
body of uterus	UBERON:0009853	92.85	gold quality
kidney epithelium	UBERON:0004819	92.79	gold quality
choroid plexus epithelium	UBERON:0003911	92.63	gold quality
metanephros	UBERON:0000081	92.57	gold quality
pleura	UBERON:0000977	92.33	gold quality
tibia	UBERON:0000979	92.32	gold quality
ascending aorta	UBERON:0001496	92.17	gold quality
thoracic aorta	UBERON:0001515	92.11	gold quality
nasal cavity epithelium	UBERON:0005384	92.09	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	930.65
E-MTAB-8142	yes	133.83
E-CURD-119	yes	15.81
E-GEOD-93593	yes	14.35
E-CURD-112	yes	14.29
E-GEOD-130148	yes	8.30
E-GEOD-83139	yes	7.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting RAI14, 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-3646	100.00	73.56	5283
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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 8)

• Subcellular localization of NORPEG in retinal pigment epithelial (ARPE-19) cells varies with cell density, with predominantly nuclear localization in nonconfluent cells, but a cytoplasmic localization in confluent cultures. (PMID:16729964)
• TCGA database and Kaplan-Meier Plotter mining results showed that compared to those with RAI14 low mRNA expression levels, Gastric Cancer patients with RAI14 high mRNA expression levels had remarkably lower time of both overall survival and disease-free survival. Cox multivariate survival analyses shows high expression of RAI14 was the only independent predictor of unfavorable prognosis in patients with gastric cancer. (PMID:29654694)
• These findings provide significant insight into the role of RAI14 in mTOR-induced glial inflammation, which is closely associated with infection and ischemia stimuli. (PMID:30554401)
• RAI14 Promotes Melanoma Progression by Regulating the FBXO32/c-MYC Pathway. (PMID:36233342)
• The deubiquitinating enzyme STAMBP is a newly discovered driver of triple-negative breast cancer progression that maintains RAI14 protein stability. (PMID:36434041)
• The dual-crosslinked prospective values of RAI14 for the diagnosis and chemosurveillance in triple negative breast cancer. (PMID:36880986)
• Phenotypic Heterogeneity Analysis of APC-Mutant Colon Cancer by Proteomics and Phosphoproteomics Identifies RAI14 as a Key Prognostic Determinant in East Asians and Westerners. (PMID:36934880)
• Retinoic acid-induced protein 14 links mechanical forces to Hippo signaling. (PMID:39160347)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rai14	ENSDARG00000039974
mus_musculus	Rai14	ENSMUSG00000022246
rattus_norvegicus	Rai14	ENSRNOG00000028872

Protein

Protein identifiers

Ankycorbin — Q9P0K7 (reviewed: Q9P0K7)

Alternative names: Ankyrin repeat and coiled-coil structure-containing protein, Novel retinal pigment epithelial cell protein, Retinoic acid-induced protein 14

All UniProt accessions (11): D6R9G4, Q9P0K7, D6R9G6, D6RB25, D6RB27, D6RBW6, D6RBY4, D6RDL2, D6RE17, D6REL2, D6RF74

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier.

Subunit / interactions. Interacts with PALLD. Associates with actin. However, does not bind F-actin directly.

Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber. Cell cortex. Cell junction. Nucleus.

Tissue specificity. Highly expressed in placenta, muscle, kidney and testis. Moderately expressed in heart, brain, lung, liver and intestine. Isoform 2 is widely expressed and expressed in fetal and adult testes, and spermatozoa.

Induction. Up-regulated by all-trans-retinoic acid (ATRA) in retinal pigment epithelial cells (ARPE-19).

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P0K7-1	1	yes
Q9P0K7-2	2, sNORPEG
Q9P0K7-3	3
Q9P0K7-4	4

RefSeq proteins (6): NP_001138992, NP_001138993, NP_001138994, NP_001138995, NP_001138997, NP_056392* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR042420	RAI14/UACA	Family

Pfam: PF00023, PF12796, PF13857

UniProt features (53 total): modified residue 22, sequence conflict 9, repeat 7, sequence variant 4, splice variant 3, coiled-coil region 2, compositionally biased region 2, region of interest 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0K7-F1	72.80	0.24

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 (22): 1, 11, 249, 281, 286, 293, 295, 297, 300, 304, 318, 327, 329, 340, 341, 350, 358, 419, 512, 515 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 260 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_52, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MALE_GAMETE_GENERATION, CTATGCA_MIR153, MODULE_118, BROWNE_HCMV_INFECTION_48HR_DN, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, ONKEN_UVEAL_MELANOMA_UP, FOSTER_TOLERANT_MACROPHAGE_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, DOANE_RESPONSE_TO_ANDROGEN_DN

GO Biological Process (2): spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (9): fibrillar center (GO:0001650), stress fiber (GO:0001725), nucleoplasm (GO:0005654), cytosol (GO:0005829), cell cortex (GO:0005938), anchoring junction (GO:0070161), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cytoskeletal protein binding	1
binding	1
nucleolus	1
actomyosin	1
contractile actin filament bundle	1
nuclear lumen	1
cell periphery	1
cell junction	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAI14	TTC23L	Q6PF05	486
RAI14	SMAP2	Q8WU79	430
RAI14	LRCH3	Q96II8	427
RAI14	KIF6	Q6ZMV9	425
RAI14	CEP170B	Q9Y4F5	408
RAI14	TMOD3	Q9NYL9	389
RAI14	CPLANE1	Q9H799	389
RAI14	DHRS13	Q6UX07	383
RAI14	BRIX1	Q8TDN6	380
RAI14	ATOSB	Q7L5A3	373
RAI14	ARHGEF17	Q96PE2	370
RAI14	DTWD2	Q8NBA8	358
RAI14	RRS1	Q15050	348
RAI14	MLF1	P58340	348
RAI14	SPEF2	Q9C093	343

IntAct

198 interactions, top by confidence:

A	B	Type	Score
RIGI	MAVS	psi-mi:“MI:0914”(association)	0.960
PSMC3	PSMD9	psi-mi:“MI:0914”(association)	0.940
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
RAI14	YWHAG	psi-mi:“MI:0915”(physical association)	0.880
RAI14	YWHAQ	psi-mi:“MI:0915”(physical association)	0.860
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAZ	RAI14	psi-mi:“MI:0915”(physical association)	0.810
RAI14	YWHAB	psi-mi:“MI:0915”(physical association)	0.810
PLK1	SPAG9	psi-mi:“MI:0914”(association)	0.790
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CB	CCDC85C	psi-mi:“MI:2364”(proximity)	0.750
PACSIN1	COBL	psi-mi:“MI:0914”(association)	0.750
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
PSMC3	PSMD12	psi-mi:“MI:0914”(association)	0.640
AIPL1	PDE5A	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
NUAK2	PPP1R12A	psi-mi:“MI:0914”(association)	0.640

BioGRID (330): RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), TRIOBP (Co-fractionation), RAI14 (Proximity Label-MS), RAI14 (Affinity Capture-MS), RAI14 (Proximity Label-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS), RAI14 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YYL3, A2A2Z9, A6NC57, A8MYB1, A9JSR5, A9UM82, A9ZSY0, D3ZNV2, F4K1B4, F7DP49, H3BUK9, Q08B20, Q0VBY1, Q19UN5, Q32L59, Q4UJ75, Q501X2, Q5CZ79, Q5M7B7, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6AY08, Q7FAD5, Q7Z7B0, Q80X59, Q811D2, Q86VH2, Q86YR6, Q8HYY4, Q8IVF6, Q8K4T4, Q8N6Q1, Q8NF67, Q8WXW3, Q96AA8, Q96IX9, Q96SN8, Q9BE52

Diamond homologs: Q5U312, Q80VM7, Q8CGB3, Q8N283, Q8TF21, Q9EP71, Q9P0K7, Q8HYY4, Q9BZF9, Q9GL21, Q0VCS9, Q8IV38

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAPK1	unknown	RAI14	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 207 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	39.8×	3e-09
Activation of BAD and translocation to mitochondria	6	33.8×	2e-06
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	29.9×	4e-06
RHO GTPases activate PKNs	10	23.5×	3e-09
Activation of BH3-only proteins	6	22.1×	2e-05
RHO GTPases activate PAKs	5	20.1×	2e-04
Intrinsic Pathway for Apoptosis	7	15.2×	2e-05
G2/M Checkpoints	11	10.9×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	12.8×	5e-03
epidermal growth factor receptor signaling pathway	6	8.7×	8e-03
actin filament organization	10	6.9×	3e-03
actin cytoskeleton organization	10	4.6×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	117
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3689 predictions. Top by Δscore:

Variant	Effect	Δscore
5:34656382:G:GT	donor_gain	1.0000
5:34656473:GGG:G	donor_gain	1.0000
5:34656474:GGG:G	donor_gain	1.0000
5:34656474:GGGT:G	donor_loss	1.0000
5:34656475:GGTG:G	donor_loss	1.0000
5:34656476:GTGA:G	donor_loss	1.0000
5:34656477:T:G	donor_loss	1.0000
5:34686951:GTGAC:G	donor_gain	1.0000
5:34686956:G:GG	donor_gain	1.0000
5:34710232:G:GT	donor_gain	1.0000
5:34756390:G:GT	donor_gain	1.0000
5:34757463:TACA:T	acceptor_loss	1.0000
5:34757464:A:AG	acceptor_gain	1.0000
5:34757465:C:G	acceptor_gain	1.0000
5:34757465:CAGA:C	acceptor_loss	1.0000
5:34757466:A:AG	acceptor_gain	1.0000
5:34757466:A:C	acceptor_loss	1.0000
5:34757467:G:GC	acceptor_gain	1.0000
5:34757467:GA:G	acceptor_gain	1.0000
5:34757467:GAC:G	acceptor_gain	1.0000
5:34757467:GACC:G	acceptor_gain	1.0000
5:34757467:GACCA:G	acceptor_gain	1.0000
5:34757551:C:T	donor_gain	1.0000
5:34757583:G:GG	donor_gain	1.0000
5:34757595:CCGC:C	donor_gain	1.0000
5:34757597:GC:G	donor_gain	1.0000
5:34757599:G:GG	donor_gain	1.0000
5:34795937:A:AG	acceptor_gain	1.0000
5:34795938:G:GG	acceptor_gain	1.0000
5:34807798:A:AG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005700 (5:34688214 C>T), RS1000013357 (5:34732127 T>C), RS1000074508 (5:34739464 T>C), RS1000079767 (5:34689803 C>T), RS1000105464 (5:34685807 T>A,C), RS1000139641 (5:34694652 T>C), RS1000148407 (5:34740977 A>C,G), RS1000184526 (5:34804857 T>C), RS1000185353 (5:34660666 G>A), RS1000185736 (5:34793041 C>T), RS1000188115 (5:34714317 T>G), RS1000225536 (5:34680391 A>G), RS1000255497 (5:34669508 C>A,T), RS1000273198 (5:34809019 C>T), RS1000281694 (5:34786166 C>G)

Disease associations

OMIM: gene MIM:606586 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST000407_2	Left ventricular mass	8.000000e-07
GCST003518_4	Daytime sleep phenotypes	9.000000e-06
GCST004500_23	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-07
GCST004501_127	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	5.000000e-07
GCST005984_16	Glomerular filtration rate	9.000000e-12
GCST005985_68	Creatinine levels	2.000000e-12
GCST007344_21	Estimated glomerular filtration rate	7.000000e-11
GCST007733_59	Serum uric acid levels	4.000000e-06
GCST007876_45	Estimated glomerular filtration rate	3.000000e-12
GCST008058_67	Estimated glomerular filtration rate	1.000000e-25
GCST008059_80	Estimated glomerular filtration rate	1.000000e-20
GCST008062_62	Blood urea nitrogen levels	5.000000e-17
GCST008064_17	Chronic kidney disease	3.000000e-06
GCST008746_5	Estimated glomerular filtration rate in diabetes	9.000000e-09
GCST008747_100	Estimated glomerular filtration rate	9.000000e-11
GCST008747_143	Estimated glomerular filtration rate	2.000000e-13
GCST008971_118	Urate levels	6.000000e-12
GCST008972_23	Urate levels	2.000000e-12
GCST009440_4	Age-related cognitive decline (attention/processing speed) (slope of z-scores)	9.000000e-06
GCST010245_52	LDL cholesterol levels	5.000000e-08
GCST90002383_204	Hematocrit	7.000000e-17
GCST90002384_103	Hemoglobin	7.000000e-15
GCST90002385_268	High light scatter reticulocyte count	9.000000e-10
GCST90002386_15	High light scatter reticulocyte percentage of red cells	1.000000e-09
GCST90002402_760	Platelet count	1.000000e-11
GCST90002403_445	Red blood cell count	2.000000e-12
GCST90002405_51	Reticulocyte count	2.000000e-12
GCST90002406_158	Reticulocyte fraction of red cells	2.000000e-12

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0008205	left ventricular structural measurement
EFO:0007828	daytime rest measurement
EFO:0004318	smoking behavior
EFO:0007789	BMI-adjusted waist circumference
EFO:0004761	uric acid measurement
EFO:0004531	urate measurement
EFO:0007710	cognitive decline measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0007986	reticulocyte count
EFO:0004309	platelet count
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

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, increases expression, increases reaction, affects expression, affects cotreatment	6
bisphenol A	affects cotreatment, decreases methylation, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression, affects cotreatment	3
Benzo(a)pyrene	decreases expression, affects methylation	3
bisphenol F	affects cotreatment, increases methylation, increases expression	2
(+)-JQ1 compound	decreases expression	2
Acetaminophen	affects expression, increases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Quercetin	increases expression, increases phosphorylation	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	increases expression	1
sodium arsenate	increases abundance, increases expression	1
decabromobiphenyl ether	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	increases methylation	1
methylparaben	increases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
coumarin	affects phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
bisphenol B	increases expression	1

Clinical trials (associated diseases)

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