Gene: HBG2

Alternate names for this Gene: HBG-T1|TNCY

Gene Summary: The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: hemoglobin subunit gamma 2

Type of Gene: protein-coding

Gene: HBE1

Alternate names for this Gene: HBE

Gene 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 the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3'

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: hemoglobin subunit epsilon 1

Type of Gene: protein-coding

rs4910742 in HBG2;HBE1 gene and Blood Sedimentation PMID 22291609 2012 A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

rs4910742 in HBG2;HBE1 gene and C-reactive protein measurement PMID 22291609 2012 A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

rs4910742 in HBG2;HBE1 gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

PMID 21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs6578598 in HBG2;HBE1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs67385638 in HBG2;HBE1 gene and Hemoglobin measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs12295181 in HBG2;HBE1 gene and Memory performance PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs112176573 in HBG2;HBE1 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs112176573 in HBG2;HBE1 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.