HBE1

Summary

HBE1 (hemoglobin subunit epsilon 1, HGNC:4830) is a protein-coding gene on chromosome 11p15.4, encoding Hemoglobin subunit epsilon (P02100). The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.

The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5’-epsilon - G-gamma - A-gamma - delta - beta-3'

Source: NCBI Gene 3046 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_005330

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4830
Approved symbol	HBE1
Name	hemoglobin subunit epsilon 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	HBE
Ensembl gene	ENSG00000213931
Ensembl biotype	protein_coding
OMIM	142100
Entrez	3046

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000292896, ENST00000380237, ENST00000396895

RefSeq mRNA: 1 — MANE Select: NM_005330 NM_005330

CCDS: CCDS7756

Canonical transcript exons

ENST00000396895 — 3 exons

Exon	Start	End
ENSE00001057367	5269454	5269676
ENSE00001484208	5268345	5268597
ENSE00003817775	5269799	5269945

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 93.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 190.4190 / max 15618.6414, expressed in 180 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118370	190.4190	180
118372	2.6619	105

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.70	gold quality
adrenal tissue	UBERON:0018303	75.85	gold quality
embryo	UBERON:0000922	68.95	gold quality
ganglionic eminence	UBERON:0004023	68.95	gold quality
blood	UBERON:0000178	67.34	gold quality
monocyte	CL:0000576	60.97	gold quality
stromal cell of endometrium	CL:0002255	60.79	gold quality
apex of heart	UBERON:0002098	58.59	gold quality
leukocyte	CL:0000738	58.58	gold quality
ventricular zone	UBERON:0003053	57.68	gold quality
gastrocnemius	UBERON:0001388	56.90	gold quality
anterior cingulate cortex	UBERON:0009835	56.74	gold quality
lower esophagus mucosa	UBERON:0035834	56.72	gold quality
cortical plate	UBERON:0005343	56.63	gold quality
right adrenal gland	UBERON:0001233	56.22	gold quality
placenta	UBERON:0001987	56.06	gold quality
right adrenal gland cortex	UBERON:0035827	55.84	gold quality
heart left ventricle	UBERON:0002084	54.74	gold quality
popliteal artery	UBERON:0002250	54.37	gold quality
tibial artery	UBERON:0007610	54.29	gold quality
right lung	UBERON:0002167	54.04	gold quality
artery	UBERON:0001637	53.96	gold quality
right frontal lobe	UBERON:0002810	53.27	gold quality
adrenal gland	UBERON:0002369	53.22	gold quality
right ovary	UBERON:0002118	52.85	gold quality
heart	UBERON:0000948	52.78	gold quality
cerebral cortex	UBERON:0000956	52.71	gold quality
temporal lobe	UBERON:0001871	52.71	gold quality
right atrium auricular region	UBERON:0006631	52.71	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-24	yes	273948.29
E-CURD-98	yes	226932.78
E-MTAB-7407	yes	188246.57
E-HCAD-23	yes	167025.25
E-MTAB-8205	yes	48499.71
E-ANND-5	yes	1055.58
E-MTAB-9388	yes	9.63
E-MTAB-9067	yes	8.16
E-HCAD-56	no	152263.60
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ASCL1, BCL11A, CTDSPL2, GATA1, GATA2, KLF11, KLF1, KLF2, KLF3, NFE2, NR2C1, NR2C2, SATB1, SATB2, SIRT1, SOX6, SSRP1, TBP, YY1

miRNA regulators (miRDB)

5 targeting HBE1, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-3922-5P	98.77	66.53	1059

Literature-anchored findings (GeneRIF, showing 30)

• Crystallization and X-ray structure of this protein, isolated from blood of beta-thalassemic patients (PMID:12659864)
• HbE carrier status has been shown to confer protection against Plasmodium falciparum malaria (PMID:15114532)
• Genomic and phylogenetic footprinting at the epsilon-globin silencer region in human cells (PMID:15157738)
• The crystal structure of HbE at 1.74 angstrom resolution in R2 state is used to provide probable explanations of the thermal stability and instability of HbE. (PMID:15449937)
• Mutation screening identified no sequence variations apart from the expected 5’epsilon /HincII polymorphism, suggesting that genomic alterations in the HBE1 gene are most likely incompatible with normal erythropoiesis and proper embryonic development (PMID:16432873)
• results suggest in the context of the whole beta-globin locus, other proximal & upstream epsilon promoter elements & competition by downstream globin genes contribute to silencing of epsilon-globin in cells of definitive erythropoiesis [epsilon-globin] (PMID:16514181)
• We discussed these results in the context of intergenic transcription and chromatin opening in the beta-globin gene cluster. (PMID:16620781)
• The epsilon-globin mRNA is modestly unstable in immature, transcriptionally active erythroid cells, but that this characteristic has relatively little impact on the accumulation of epsilon-globin mRNA at subsequent stages of terminal differentiation. (PMID:17003365)
• The epsilon-globin gene differs in its distance sensitivity to the locus control region from the other beta-like globin genes, which is, at least in part, determined by the transcription factor EKLF. (PMID:17548470)
• the HbA/HbE polymorphism would not be a major genetic factor influencing the onset of cerebral malaria in Thailand. (PMID:18787944)
• The slightly increased levels of Hb A(2), 3.5% +/- 0.4%, which is shown in the carriers of Hb E, confirm that Hb E is the silent phenotype of beta(+)-thalassemia. (PMID:18940720)
• It is necessary to perform a comprehensive DNA analysis for alpha-thalassemia in cases of homozygous HbE when their partner is suspected of having alpha-thalassemia 1 gene. (PMID:19323016)
• Erythroblasts from beta-thalassemia/Hb E patients only show activation of the unfolded protein response pathway in response to internal stress, whereas normal erythroblasts respond to both internal and external stress. (PMID:20015891)
• The frequency of the Ggamma-158(C–>T) polymorphism was relatively high in Southern Chinese patients with HbE/beta-thalassemia major. (PMID:20822527)
• patients with hemoglobin Ebeta thalassemia have a significant decrease in the oxygen affinity of their hemoglobin, that is an increased P(50) value, in response to anemia. (PMID:20833979)
• investigation of interaction of HbE w/ other abnormal hemoglobins found in India isolated by cation exchange chromatography; interactions complicate Hb isolation and thus diagnosis of hemoglobinopathies/beta-thalassemias in heterozygous patients (PMID:21986214)
• the observed in vivo RBC mild oxidative stress arises, at least in part, from the molecular consequences of the HbE mutation. (PMID:22260787)
• Studies suggest that the Hb A(2)/E level at 21.54% is the best indicator for predicting co-inheritance of the alpha-thal-1 - -(SEA)/ deletion and Hb E trait. (PMID:22563848)
• In the present study, involving the characterization of mutations in transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India, Hb E [beta26(B8)Glu–>Lys, GAG>AAG] was found in high frequency. (PMID:22738610)
• A plasma proteome analysis is performed to identify differentially expressed proteins compared between normal subjects and patients with mild and severe forms of beta-thalassemia/hemoglobin E (Hb E). (PMID:23161390)
• Data indicate that in embryonic stem cells (hESCs)-derived erythroblasts where both epsilon and gamma globin were active, epsilon globin was immediately silenced upon transfer, whereas gamma globin continued to be expressed for months. (PMID:23993951)
• Data indicate that Myb and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like human transgenic globin genes in the adult erythroid environment. (PMID:24371119)
• findings indicate the Xmn1-Ggamma polymorphism is likely to be one factor that influences the production of HbF in beta-thalassemia/HbE patients, but not in homozygous HbE patients (PMID:25043956)
• epsilon-globin expression is regulated by SUV4-20h1. (PMID:26802048)
• Fetal varepsilon-globin gene expression is significantly greater than adult expression and is increased in maternal plasma compared to non-pregnant samples. (PMID:27002261)
• These data indicate that HP1-gamma is a novel epigenetic repressor of epsilon-globin gene expression. (PMID:28154185)
• Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels. (PMID:31396950)
• MicroRNA expression patterns in HbE/beta-thalassemia patients: The passwords to unlock fetal hemoglobin expression in beta-hemoglobinopathies. (PMID:33242839)
• Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand. (PMID:35741722)
• Molecular Characterization of Haemoglobin E. (PMID:38083912)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	hbbe3	ENSDARG00000038147
danio_rerio	hbbe2	ENSDARG00000045143
danio_rerio	hbba2	ENSDARG00000069734
danio_rerio	hbbe1.3	ENSDARG00000087390
danio_rerio	hbba1	ENSDARG00000089087
danio_rerio	ba1l	ENSDARG00000097238
danio_rerio	hbbe1.1	ENSDARG00000113599
danio_rerio	hbbe1.2	ENSDARG00000115405
mus_musculus	Hbb-y	ENSMUSG00000052187
rattus_norvegicus	Hbe1	ENSRNOG00000029286
drosophila_melanogaster	glob1	FBGN0027657
caenorhabditis_elegans		WBGENE00008996
caenorhabditis_elegans		WBGENE00077763

Paralogs (11): HBQ1 (ENSG00000086506), HBZ (ENSG00000130656), CYGB (ENSG00000161544), HBA2 (ENSG00000188536), HBG2 (ENSG00000196565), MB (ENSG00000198125), HBA1 (ENSG00000206172), HBM (ENSG00000206177), HBG1 (ENSG00000213934), HBD (ENSG00000223609), HBB (ENSG00000244734)

Protein

Protein identifiers

Hemoglobin subunit epsilon — P02100 (reviewed: P02100)

Alternative names: Epsilon-globin, Hemoglobin epsilon chain

All UniProt accessions (2): D9YZU7, P02100

UniProt curated annotations — full annotation on UniProt →

Function. The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.

Subunit / interactions. Heterotetramer of two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1.

Tissue specificity. Red blood cells.

Similarity. Belongs to the globin family.

RefSeq proteins (1): NP_005321* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000971	Globin	Domain
IPR002337	Hemoglobin_b	Family
IPR009050	Globin-like_sf	Homologous_superfamily
IPR012292	Globin/Proto	Homologous_superfamily
IPR050056	Hemoglobin_oxygen_transport	Family

Pfam: PF00042

UniProt features (22 total): helix 10, turn 3, binding site 2, modified residue 2, initiator methionine 1, chain 1, strand 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1A9W	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02100-F1	97.26	0.98

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 64 (distal binding residue); 93 (proximal binding residue)

Post-translational modifications (2): 14, 51

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 109 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_CELL_DEVELOPMENT, MODULE_255, GOBP_ERYTHROCYTE_HOMEOSTASIS, MODULE_317, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, ROZANOV_MMP14_TARGETS_UP, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, GOBP_GAS_TRANSPORT, GOBP_OXYGEN_TRANSPORT

GO Biological Process (3): carbon dioxide transport (GO:0015670), oxygen transport (GO:0015671), erythrocyte development (GO:0048821)

GO Molecular Function (6): oxygen carrier activity (GO:0005344), oxygen binding (GO:0019825), heme binding (GO:0020037), hemoglobin alpha binding (GO:0031721), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), hemoglobin complex (GO:0005833), haptoglobin-hemoglobin complex (GO:0031838), blood microparticle (GO:0072562)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gas transport	2
cellular anatomical structure	2
protein-containing complex	2
one-carbon compound transport	1
erythrocyte differentiation	1
myeloid cell development	1
oxygen transport	1
oxygen binding	1
molecular carrier activity	1
small molecule binding	1
tetrapyrrole binding	1
hemoglobin binding	1
cation binding	1
binding	1
cytoplasm	1
cytosol	1
extracellular region	1

Protein interactions and networks

STRING

1124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HBE1	AHSP	Q9NZD4	868
HBE1	KLF1	Q13351	856
HBE1	BCL11A	Q9H165	775
HBE1	GATA1	P15976	758
HBE1	GYPA	P02724	744
HBE1	GYPB	P06028	728
HBE1	NFE4	Q86UQ8	649
HBE1	GYPE	P15421	626
HBE1	NFE2	Q16621	626
HBE1	ALAS2	P22557	602
HBE1	KLF13	Q9Y2Y9	598
HBE1	HBZ	P02008	594
HBE1	FECH	P22830	589
HBE1	SCN2A	Q99250	563
HBE1	HBS1L	Q9Y450	546

IntAct

27 interactions, top by confidence:

A	B	Type	Score
HBZ	HBE1	psi-mi:“MI:0915”(physical association)	0.680
HBE1	HBA1	psi-mi:“MI:0915”(physical association)	0.680
HBE1	HBZ	psi-mi:“MI:0407”(direct interaction)	0.680
HBE1	HBA1	psi-mi:“MI:0407”(direct interaction)	0.680
HBE1	HBQ1	psi-mi:“MI:0915”(physical association)	0.560
HBE1	TTC19	psi-mi:“MI:0915”(physical association)	0.500
Hba	HBE1	psi-mi:“MI:0407”(direct interaction)	0.440
Vps28	UMAD1	psi-mi:“MI:0914”(association)	0.350
BIRC2	UMAD1	psi-mi:“MI:0914”(association)	0.350
MACROD1	HBE1	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
HBE1	HBB	psi-mi:“MI:0914”(association)	0.350
HBE1	HBG1	psi-mi:“MI:0914”(association)	0.350
VCAM1		psi-mi:“MI:0914”(association)	0.350
HBE1	HBZ	psi-mi:“MI:0915”(physical association)	0.000
HBE1	HBA1	psi-mi:“MI:0915”(physical association)	0.000
HBE1	HBQ1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): HBE1 (Affinity Capture-MS), HBE1 (Affinity Capture-MS), HBE1 (Affinity Capture-MS), HBE1 (Affinity Capture-MS), HBE1 (Two-hybrid), HBE1 (Two-hybrid), HBE1 (Two-hybrid), HBE1 (Two-hybrid), TTC19 (Affinity Capture-MS), HBB (Affinity Capture-MS), HBG1 (Affinity Capture-MS), HBE1 (Affinity Capture-MS), HBE1 (Two-hybrid), HBE1 (Affinity Capture-MS), HBE1 (Affinity Capture-MS)

ESM2 similar proteins: O13071, P02100, P02102, P02103, P02104, P08223, P08224, P08225, P18435, P18994, P18995, P19759, P19760, P51438, P51440, P51441, P51442, P51443, P61920, P61947, P68016, P68017, P68018, P68019, P68020, P68021, P68022, P68023, P68024, P68025, P68026, P68027, P68028, P68029, P68077, P68078, P68079, Q28220, Q28338, Q28496

Diamond homologs: C0HJE1, O77655, P02073, P02084, P02085, P02086, P02087, P02100, P02101, P02102, P02112, P02113, P02114, P02115, P02116, P02117, P02118, P02120, P02121, P02122, P02123, P02124, P02125, P02126, P02127, P02129, P02130, P02131, P04246, P07036, P07406, P07411, P08223, P08224, P08261, P08851, P09905, P10058, P10782, P11342

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CTDSPL2	“up-regulates quantity by expression”	HBE1	“transcriptional regulation”
KLF11	“up-regulates quantity by expression”	HBE1	“transcriptional regulation”
KLF2	“up-regulates quantity by expression”	HBE1	“transcriptional regulation”
NFE2	“up-regulates quantity by expression”	HBE1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 14 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.

GO biological processes:

GO term	Partners	Fold	FDR
oxygen transport	5	478.8×	2e-11
erythrocyte development	5	239.4×	5e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

5253 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5268471:A:AC	donor_gain	1.0000
11:5268481:A:AC	donor_gain	1.0000
11:5268481:ATGGG:A	donor_gain	1.0000
11:5268482:T:C	donor_gain	1.0000
11:5269450:TCA:T	donor_loss	1.0000
11:5269451:CACCT:C	donor_loss	1.0000
11:5269452:A:AC	donor_gain	1.0000
11:5269452:A:AT	donor_loss	1.0000
11:5269453:C:CC	donor_gain	1.0000
11:5269453:C:CG	donor_loss	1.0000
11:5269453:C:CT	donor_loss	1.0000
11:5269677:C:CC	acceptor_gain	1.0000
11:5269679:A:C	acceptor_gain	1.0000
11:5269452:AC:A	donor_gain	0.9900
11:5269453:CC:C	donor_gain	0.9900
11:5269601:C:CT	acceptor_gain	0.9900
11:5269656:C:CT	acceptor_gain	0.9900
11:5269656:C:T	acceptor_gain	0.9900
11:5268472:G:C	donor_gain	0.9800
11:5268477:A:AC	donor_gain	0.9800
11:5268478:C:CC	donor_gain	0.9800
11:5268594:GGAG:G	acceptor_gain	0.9800
11:5268594:GGAGC:G	acceptor_loss	0.9800
11:5268597:GC:G	acceptor_loss	0.9800
11:5268598:C:A	acceptor_loss	0.9800
11:5268598:C:CC	acceptor_gain	0.9800
11:5268599:T:A	acceptor_loss	0.9800
11:5268607:A:T	acceptor_gain	0.9800
11:5269453:CCTTG:C	donor_gain	0.9800
11:5269645:ATCTC:A	acceptor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000317970 (11:5270830 C>G), RS1002984540 (11:5268792 G>A), RS1004253348 (11:5271557 T>A), RS1006205784 (11:5268155 G>T), RS1006754610 (11:5269200 C>A,T), RS1006919798 (11:5268399 C>A), RS1007038466 (11:5270873 C>G), RS1008217830 (11:5268115 T>A,C), RS1010461033 (11:5270660 T>C), RS1011107252 (11:5270669 G>A), RS1011159762 (11:5270993 A>C,G), RS1012494790 (11:5270570 G>A), RS1013086557 (11:5269161 C>A), RS1013113475 (11:5268834 T>A,C), RS1013515315 (11:5268472 G>A,C)

Disease associations

OMIM: gene MIM:142100 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000532_1	Beta thalassemia/hemoglobin E disease	3.000000e-15
GCST001779_5	Hematology traits	5.000000e-11
GCST001782_4	Mean corpuscular hemoglobin concentration	1.000000e-13
GCST003122_3	Hemoglobin levels	4.000000e-86
GCST003122_7	Hemoglobin levels	1.000000e-25
GCST004329_7	Mean corpuscular hemoglobin concentration	4.000000e-07
GCST004536_1	Hemoglobin	5.000000e-11
GCST004621_21	Red cell distribution width	7.000000e-12
GCST007005_5	Logical memory (immediate recall) in normal cognition	3.000000e-06
GCST007006_9	Logical memory (delayed recall) in normal cognition	1.000000e-07
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST90002385_189	High light scatter reticulocyte count	4.000000e-10
GCST90002386_415	High light scatter reticulocyte percentage of red cells	3.000000e-09
GCST90002392_558	Mean corpuscular volume	4.000000e-09
GCST90002396_454	Mean reticulocyte volume	2.000000e-24
GCST90002396_455	Mean reticulocyte volume	3.000000e-09
GCST90002397_560	Mean spheric corpuscular volume	7.000000e-24
GCST90002397_561	Mean spheric corpuscular volume	2.000000e-13
GCST90002404_506	Red cell distribution width	2.000000e-43
GCST90002405_271	Reticulocyte count	4.000000e-13
GCST90002406_358	Reticulocyte fraction of red cells	5.000000e-12

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004509	hemoglobin measurement
EFO:0005845	hemoglobin A2 measurement
EFO:0004576	fetal hemoglobin measurement
EFO:0009188	Red cell distribution width
EFO:0004874	memory performance
EFO:0007986	reticulocyte count
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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Formaldehyde	decreases expression	2
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, affects methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
entinostat	decreases expression	1
belinostat	decreases expression	1
bisphenol S	increases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, affects methylation, decreases methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Fluorouracil	decreases expression, affects response to substance	1
Folic Acid	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	decreases expression	1
Okadaic Acid	decreases expression, increases expression	1

Clinical trials (associated diseases)

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