HBE1 (hemoglobin subunit epsilon 1)

2016-10-01 Affiliation

Identity

HGNC

HBE1

LOCATION

11p15.4

LOCUSID

3046

ALIAS

HBE

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3046
MIM: 142100
HGNC: 4830
Ensembl: ENSG00000213931

Variants:

dbSNP: 3046
ClinVar: 3046
TCGA: ENSG00000213931
COSMIC: HBE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000213931	ENST00000292896	P02100
ENSG00000213931	ENST00000292896	D9YZU7
ENSG00000213931	ENST00000380237	P02100
ENSG00000213931	ENST00000380237	D9YZU7
ENSG00000213931	ENST00000396895	P02100
ENSG00000213931	ENST00000396895	D9YZU7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38083912	2023	Molecular Characterization of Haemoglobin E.	0
38083912	2023	Molecular Characterization of Haemoglobin E.	0
35741722	2022	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.	2
35741722	2022	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.	2
33242839	2021	MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies.	11
33242839	2021	MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies.	11
31396950	2020	Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.	1
31396950	2020	Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.	1
28154185	2017	Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression.	2
28154185	2017	Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression.	2
26802048	2016	ε-globin expression is regulated by SUV4-20h1.	2
27002261	2016	Epsilon globin gene expression in developing human fetal tissues.	0
26802048	2016	ε-globin expression is regulated by SUV4-20h1.	2
27002261	2016	Epsilon globin gene expression in developing human fetal tissues.	0
25043956	2015	Analysis of the Xmn1-(G) γ polymorphism in β-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF.	4

Citation

Dessen P

HBE1 (hemoglobin subunit epsilon 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56319