1. Gene
  2. HBG1 - hemoglobin subunit gamma 1 Gene

HBG1 - hemoglobin subunit gamma 1 Gene

Homo sapiens

Also known as HBGA; HBGR; HBG-T2; HSGGL1; PRO2979

Gene ID: 3047 | Gene type: protein coding

About HBG1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,248,269-5,249,857 (from NCBI)

This gene has 3 transcripts (splice variants), 548 orthologues, 11 paralogues and is associated with 4 phenotypes.

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'. [provided by RefSeq, Jul 2008]

HBG1 Products(1)

mRNA Protein Name
NM_000559.3 NP_000550.2 hemoglobin subunit gamma-1

HBG1 Protein Structure

Globin

Globin: Globin (8 - 112)

  • 0
  • 100
  • 147 a.a.
Protein Preferred Names Protein Names

hemoglobin subunit gamma-1

A-gamma globin

Related Diseases

Diseases Alias
Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Hpfh-Beta-Thalassemia Syndrome

Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Hpfh-Sickle Cell Disease Syndrome

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Thalassemia

Sickle-Cell Thalassemia With Crisis

Sickle-Cell Thalassemia Without Crisis

Thalassemia Hb-S Disease With Crisis

Thalassemia Hb-S Disease Without Crisis

Thalassemias

Hereditary Leptocytosis

Haemoglobin Thalassaemia Disorder

Thalassaemia Syndrome

Thalassaemia Nos

Thalassemia Variants

Sickle Cell Disease

Hbs Disease

Hemoglobin S Disease

Scd

Sickle Cell Disorders

Sickling Disorder Due To Hemoglobin S

Anemia, Sickle Cell

Hb-Ss Disease Without Crisis

Hbss Without Crisis

Sickle-Cell Anaemia Without Crisis

Scd - [Sickle Cell Disease]

Sca - [Sickle Cell Anaemia]

Sickle Cell Disease Nos

Sickle Cell Disorder

Sickle Cell Syndrome

Sickle-Cell Anaemia Nos

Sickle-Cell Disorder Nos

Haemoglobin S Disease

Haemoglobin Ss Disease

Hb S Disease

Hb Ss Disease

Herrick Anaemia

Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

Sickle-Cell Haemoglobin Disease

Sickling Disorder Due To Haemoglobin S

Hb-Ss Disease With Crisis

Sickle Cell Crisis

Sickle-Cell Disorder With Crisis

Sickle-Cell Anaemia With Crisis

Hbss With Crisis

Hb S Disease With Mention Of Crisis

Haemoglobin Ss Disease With Crisis

Hb-Ss Disease With Vaso-Occlusive Pain

Vaso-Occlusive Crisis

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Hemoglobinopathy

Hemoglobinopathies

Erythroleukemia
Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Beta-Thalassemia Intermedia
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Hemoglobin C Disease

Hb C Disease

Hemoglobin C

Hb-C Disease

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Thalassemia Minor
Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Alpha-Thalassemia Myelodysplasia Syndrome

ATMDS

Acquired Hemoglobin H Disease

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Acquired Hbh Disease

Alpha-Thalassemia-Myelodysplastic Syndrome

Hemoglobin H Disease, Acquired

Acquired Alpha-Thalassemia With Myelodysplastic Syndrome

Hemoglobin H Disease Acquired

Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HBG1 RGD RGD:620306