HBE1 (hemoglobin subunit epsilon 1)

2016-10-01  

Identity

HGNC
HBE1
LOCATION
11p15.4
LOCUSID
3046
ALIAS
HBE

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213931ENST00000292896P02100
ENSG00000213931ENST00000292896D9YZU7
ENSG00000213931ENST00000380237P02100
ENSG00000213931ENST00000380237D9YZU7
ENSG00000213931ENST00000396895P02100
ENSG00000213931ENST00000396895D9YZU7

Expression (GTEx)

0
5
10
15
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

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
151145322004Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection.45
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
154499372004Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.11
208339792010Adaptation to anemia in hemoglobin E-ß thalassemia.9
243711192014Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes.7
113048512001Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?6
175484702007Linear distance from the locus control region determines epsilon-globin transcriptional activity.6
187879442008Lack of association of the HbE variant with protection from cerebral malaria in Thailand.6
187879442008Lack of association of the HbE variant with protection from cerebral malaria in Thailand.6
222607872012A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress.6

Citation

Dessen P

HBE1 (hemoglobin subunit epsilon 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56319/hbe1