HBE1 (hemoglobin subunit epsilon 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3046
Gene name Hemoglobin subunit epsilon 1
Gene symbol HBE1
Synonyms (NCBI Gene)
HBE
Chromosome 11
Chromosome location 11p15.4
Summary 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.
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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 Transcription factors information provided by TRRUST V2 database.
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142100 4830 ENSG00000213931
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA, SICKLE CELL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HBE1-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (48)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 16620781, 2995916, 3456225, 6089193
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21965228
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24966940
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 17284746, 19843387, 32048804, 32633642 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 26292035, 28154185, 28531196, 7680924 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 22028795 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 28531196, 31992253, 8839873 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Iron Deficiency Iron deficiency anemia Pubtator 29737797, 32633642 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 14587045, 18266205, 20932329, 23409025, 28154185, 28768465, 28800727, 34069401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 12124399, 17003365
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations