HBE1 (hemoglobin subunit epsilon 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3046
Gene name Gene Name - the full gene name approved by the HGNC.
Hemoglobin subunit epsilon 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBE1
Synonyms (NCBI Gene) Gene synonyms aliases
HBE
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.
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 t
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017542 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
GATA1 Unknown 8423810
KLF3 Unknown 12621553
NFE2 Unknown 8423810
SATB1 Activation 15618465
SIRT1 Repression 22328728
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005344 Function Oxygen carrier activity IBA
GO:0005344 Function Oxygen carrier activity IEA
GO:0005344 Function Oxygen carrier activity TAS 7555018
GO:0005515 Function Protein binding IPI 11159543, 32296183, 33961781
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142100 4830 ENSG00000213931
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P02100
Protein name Hemoglobin subunit epsilon (Epsilon-globin) (Hemoglobin epsilon chain)
Protein function The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.
PDB 1A9W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00042 Globin 8 → 112 Globin Domain
Tissue specificity TISSUE SPECIFICITY: Red blood cells.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Factors involved in megakaryocyte development and platelet production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cutaneous mastocytosis Cutaneous mastocytosis N/A N/A GWAS
Mastocytosis Mastocytosis N/A N/A GWAS
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 18654872
Abortion Spontaneous Associate 18654872
Acidosis Renal Tubular Associate 18266205
alpha Thalassemia Associate 17284746, 19843387, 32048804, 32633642
Anemia Associate 26292035, 28154185, 28531196, 7680924
Anemia Hemolytic Stimulate 22028795
Anemia Hemolytic Associate 28531196, 31992253, 8839873
Anemia Iron Deficiency Associate 29737797, 32633642
Anemia Sickle Cell Associate 14587045, 18266205, 20932329, 23409025, 28154185, 28768465, 28800727, 34069401
Bacterial Infections Associate 31884679