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

Gene: OR51B5

Alternate names for this Gene: HOR5'Beta5|OR11-37

Gene Summary: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: olfactory receptor family 51 subfamily B member 5

Type of Gene: protein-coding

rs10768980 in HBG2;HBE1;OR51B5 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.

rs557129696 in HBG2;HBE1;OR51B5 gene and Hemoglobin measurement PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

rs7482428 in HBG2;HBE1;OR51B5 gene and response to SSRI PMID 29160301 2018 New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation.