HBA2 - hemoglobin subunit alpha 2 Gene

Also Known as HBH; ECYT7; HBA-T2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3040

About HBA2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:172,876-173,710 (from NCBI)

This gene has 4 transcripts (splice variants), 235 orthologues, 11 paralogues and is associated with 9 phenotypes.

Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal Hemoglobin) makes up the remaining 3% of adult Hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

HBA2 Products (1)

mRNA	Protein	Name
NM_000517.6	NP_000508.1	hemoglobin subunit alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G protein-coupled receptor binding	IDA IDA: Inferred from direct assay	18077343	GOA
contributes to haptoglobin binding	IDA IDA: Inferred from direct assay	19740759	GOA
contributes to peroxidase activity	IDA IDA: Inferred from direct assay	19740759	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1552945	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hydrogen peroxide catabolic process	IDA IDA: Inferred from direct assay	19740759	GOA
involved in nitric oxide transport	IDA IDA: Inferred from direct assay	8292032	GOA
involved in oxygen transport	IDA IDA: Inferred from direct assay	11159543	GOA
involved in oxygen transport	IMP IMP: Inferred from mutant phenotype	7518430	GOA
involved in response to hydrogen peroxide	IDA IDA: Inferred from direct assay	19740759	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	21805676	GOA
part of haptoglobin-hemoglobin complex	IDA IDA: Inferred from direct assay	19740759	GOA
part of hemoglobin complex	IDA IDA: Inferred from direct assay	19740759	GOA
part of hemoglobin complex	IPI IPI: Inferred from physical interaction	881729	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HBA2 Protein Structure

Globin

0
100
142 a.a.

Protein Preferred Names	Protein Names
hemoglobin subunit alpha	alpha globin

Recombinant HBA2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70397	Hemoglobin subunit alpha/HBA1 Protein, Human (His)	P69905 (M1-R142)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hemoglobin H Disease	HBH Hemoglobin H Disease, Nondeletional Hemoglobin H Disease, Deletional Alpha-Thalassemia Intermedia Haemoglobin H Disease Alpha-Thalassemia, Hemoglobin H Type Hemoglobin H Disease, Deletional And Nondeletional Alpha Thalassemia, Haemoglobin H Type Alpha Thalassemia, Hemoglobin H Type Haemoglobin H Disease, Deletional Hbh Disease Alpha-Thalassemia Hemoglobin H Type Hemoglobin H Disease Deletional Hemoglobin H Disease Non-Deletional Alpha-Thalassemia Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia Alpha Thalassaemia Intermedia
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Erythrocytosis, Familial, 7	ECYT7 Erythrocytosis 7 Familial Erythrocytosis 7 Erythrocytosis, Alpha-Globin Type Polycythemia, Alpha-Globin Type Alpha-Globin Type Erythrocytosis Alpha-Globin Type Polycythemia
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Heinz Body Anemias	Heinz Body Anemia Heinz Body Anemias, Alpha- HEIBAN Anemia, Heinz Body Acquired Heinz Body Anemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Splenomegaly
Autosomal Dominant Secondary Polycythemia	Autosomal Dominant Secondary Erythrocytosis
Methemoglobinemia, Beta-Globin Type	Hemoglobin M Disease Blue Baby Syndrome M Hemoglobinopathy Congenital Methemoglobinemia Autosomal Dominant Methemoglobinemia Hereditary Methemoglobinemia Due To Hemoglobin Mutation
Alpha Thalassemia-Intellectual Disability Syndrome Type 1	Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 Atr Syndrome Linked To Chromosome 16 Atr Syndrome, Deletion Type Atr-16 Syndrome Alpha Thalassemia-Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type Alpha-Thalassemia/Mental Retardation Syndrome, Type 1 Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
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
Hemoglobinopathy	Hemoglobinopathies
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
Histiocytosis-Lymphadenopathy Plus Syndrome	H Syndrome Histiocytosis With Joint Contractures And Sensorineural Deafness Faisalabad Histiocytosis Shml Hjcd Rosai-Dorfman Disease Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Phid Sinus Histiocytosis And Massive Lymphadenopathy Familial Rosai-Dorfman Disease Slc29a3 Spectrum Disorder Sinus Histiocytosis With Massive Lymphadenopathy Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Rosai-Dorfman Disease, Familial Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness Rdd Rosaï-Dorfman Disease Slc29a3 Disorder Destombes-Rosai-Dorfman Disease Rosai-Dorfman-Destombes Disease HLAS Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness H Disease Sinus Histiocytosis
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
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
Glutathione Peroxidase Deficiency	GPXD Hemolytic Anemia Due To Glutathione Peroxidase Deficiency Gluthathione Peroxidase Deficiency
Type 1 Diabetes Mellitus 24	Diabetes Mellitus, Insulin-Dependent, 24 Iddm24 T1D24 Insulin-Dependent Diabetes Mellitus 24
Immune Hydrops Fetalis	Ihf Immune Hf Immune Fetal Edema Immune Fetal Hydrops
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Erythroleukemia
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
Hypoglycemic Coma
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Erythrocytosis, Familial, 8	Diphosphoglycerate Mutase Deficiency Of Erythrocyte ECYT8 Bisphosphoglycerate Mutase Deficiency Bisphosphoglyceromutase Deficiency Bpgm Deficiency Dpgm Deficiency Deficiency Of Bisphosphoglycerate Mutase Familial Erythrocytosis 8 Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency Erythrocytosis, Familial, Type 8
Thalassemia Minor
Type 1 Diabetes Mellitus 7	Diabetes Mellitus, Insulin-Dependent, 7 Iddm7 Insulin-Dependent Diabetes Mellitus 7 T1D7
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Erythrocytosis, Familial, 1	ECYT1 Pfcp Primary Familial And Congenital Polycythemia Familial Erythrocytosis 1 Familial Erythrocytosis Polycythemia, Primary Familial And Congenital Autosomal Dominant Benign Erythrocytosis Familial Erythrocytosis Type 1 Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation Congenital Polycythemia Due To Erythropoietin Receptor Mutation Primary Congenital Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Autosomal Dominant Benign Erythrocytosis, Somatic Autosomal Dominant Familial Erythrocytosis-1 Erythrocytosis Autosomal Dominant Benign Familial Primary Polycythemia Familial Erythrocytosis, 1 Erythrocytosis, Familial, Type 1
Febrile Seizures, Familial, 6	FEB6 Familial Febrile Seizures 6 Convulsions, Familial Febrile, 6 Familial Febrile Convulsions 6 Febrile Convulsions, Familial, 6
Immature Cataract	Incipient Cataract Incipient Senile Cataract Water Clefts
Autoimmune Disease Of Endocrine System
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Hypochromic Microcytic Anemia	Anemia, Hypochromic Microcytic Microcytic Hypochromic Anemia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
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
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]
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 1 PKD1 Adpkd Polycystic Kidney Disease, Adult, Type I Apkd1 Potter Type Iii Polycystic Kidney Disease Polycystic Kidney Disease, Adult Potter Type Iii Polycystic Kidney Disease, Formerly Polycystic Kidney Disease, Type 1 Adpkd1 Adult Polycystic Kidney Disease Type 1 Autosomal Dominant Polycystic Kidney Disease 1 Pkd-1 Polycystic Kidney Disease Adult Polycystic Kidney Disease Type I Polycystic Kidneys Polycystic Kidney Disease, Adult Type I Polycystic Kidney Type 1 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 1 Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Type 1 Autosomal Dominant Disease Polycystic Kidney Diseases
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-187269S	[U-15N]-HbA2		/	Unkown
HY-RS06025	HBA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-173108S	Haemoglobin HbA2 (a2d2), U-15N		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HBA2	RGD	RGD:1359209