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HBE1 (hemoglobin subunit epsilon 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3046
Gene nameGene Name - the full gene name approved by the HGNC.
Hemoglobin subunit epsilon 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HBE1
SynonymsGene synonyms aliases
HBE
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017542 hsa-miR-335-5p Microarray 18185580
Transcription factors
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.
GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IBA 21873635
GO:0005344 Function Oxygen carrier activity IBA 21873635
GO:0005515 Function Protein binding IPI 11159543, 32296183
GO:0005829 Component Cytosol TAS
GO:0005833 Component Hemoglobin complex IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
Sequence length 147
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 23406172

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