Human Gene HBA2 (ENST00000251595.11_5) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: HBA_HUMAN
DESCRIPTION: RecName: Full=Hemoglobin subunit alpha; AltName: Full=Alpha-globin; AltName: Full=Hemoglobin alpha chain;
FUNCTION: Involved in oxygen transport from the lung to the various peripheral tissues.
SUBUNIT: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF).
INTERACTION: P68871:HBB; NbExp=19; IntAct=EBI-714680, EBI-715554;
TISSUE SPECIFICITY: Red blood cells.
PTM: The initiator Met is not cleaved in variant Thionville and is acetylated.
DISEASE: Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
DISEASE: Defects in HBA1 are the cause of alpha-thalassemia (A- THAL) [MIM:604131]. The thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of three alpha genes results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia known as hemoglobin H disease. Untreated, most patients die in childhood or early adolescence. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). The thalassemic phenotype is due to unstable globin alpha chains that are rapidly catabolized prior to formation of the alpha-beta heterotetramers.
DISEASE: Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non- immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
DISEASE: Defects in HBA1 are the cause of hemoglobin H disease (HBH) [MIM:613978]. HBH is a form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
MISCELLANEOUS: Gives blood its red color.
SIMILARITY: Belongs to the globin family.
SEQUENCE CAUTION: Sequence=BAD97112.1; Type=Erroneous initiation;
WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1";
WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA1";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA2";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1";
WEB RESOURCE: Name=Wikipedia; Note=Hemoglobin entry; URL="http://en.wikipedia.org/wiki/Hemoglobin";
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Primer design for this transcript
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MalaCards Disease Associations
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MalaCards Gene Search: HBA2
Diseases sorted by gene-association score: hemoglobin h disease, nondeletional* (1292), thalassemias, alpha-* (1055), heinz body anemia* (424), hydrops fetalis, nonimmune* (247), methemoglobinemia, beta-globin type* (247), hemoglobin constant spring* (143), hemoglobin quong sze* (125), hemoglobin pakse* (100), hemoglobinopathy (32), alpha-thalassemia/mental retardation syndrome, chromosome 16-related* (25), thalassemia (25), thalassemia intermedia (21), thalassemia minor (20), thalassemia major (18), histiocytosis-lymphadenopathy plus syndrome (14), thalassemia, hispanic gamma-delta-beta (14), sickle cell disease (11), microcytic anemia (11), neonatal anemia (10), immune hydrops fetalis (10), hypochromic microcytic anemia (10), hemolytic anemia (9), diabetes mellitus, insulin-dependent, 24 (9), congenital hemolytic anemia (8), pyruvate kinase deficiency (8), hypoglycemic coma (7), diabetes mellitus, insulin-dependent, 7 (7), immature cataract (6), sickle cell anemia (6), diabetes mellitus, insulin-dependent, 11 (6), acute erythroid leukemia (5), rubeosis iridis (5), background diabetic retinopathy (5), autonomic nervous system disease (4), malaria (4), diabetes mellitus, insulin-dependent, 5 (3), diabetes mellitus, insulin-dependent (2), glucose metabolism disease (2), acquired metabolic disease (1), retinal vascular disease (1)
* = Manually curated disease association
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Comparative Toxicogenomics Database (CTD)
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 Common Gene Haplotype Alleles
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Press "+" in the title bar above to open this section.
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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Press "+" in the title bar above to open this section.
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mRNA Secondary Structure of 3' and 5' UTRs
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The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR000971 - Globin
IPR009050 - Globin-like
IPR012292 - Globin_dom
IPR002338 - Haemoglobin_a
IPR018331 - Haemoglobin_alpha_chain
IPR002339 - Haemoglobin_pi
Pfam Domains:
PF00042 - Globin
SCOP Domains:
46458 - Globin-like
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on P69905
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
| Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
| No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No ortholog |
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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KX533500 - Homo sapiens Hemoglobin subunit alpha (HBA2) mRNA, complete cds.
JD326111 - Sequence 307135 from Patent EP1572962.
V00493 - Homo sapiens messenger mRNA for hemoglobin alpha chain.
AF097635 - Homo sapiens alpha-2 globin (HBA1) mRNA, complete cds.
BC008572 - Homo sapiens hemoglobin, alpha 1, mRNA (cDNA clone MGC:17020 IMAGE:4177243), complete cds.
AF147332 - Homo sapiens full length insert cDNA clone YB24D09.
JD041152 - Sequence 22176 from Patent EP1572962.
DQ894945 - Synthetic construct Homo sapiens clone IMAGE:100009405; FLH179688.01L; RZPDo839B06131D hemoglobin, alpha 2 (HBA2) gene, encodes complete protein.
DQ896383 - Synthetic construct Homo sapiens clone IMAGE:100010843; FLH193822.01L; RZPDo839C0669D hemoglobin, alpha 2 (HBA2) gene, encodes complete protein.
DQ891761 - Synthetic construct clone IMAGE:100004391; FLH179692.01X; RZPDo839B06132D hemoglobin, alpha 2 (HBA2) gene, encodes complete protein.
DQ893109 - Synthetic construct clone IMAGE:100005739; FLH193826.01X; RZPDo839C0679D hemoglobin, alpha 2 (HBA2) gene, encodes complete protein.
AB590168 - Synthetic construct DNA, clone: pFN21AE1112, Homo sapiens HBA1 gene for hemoglobin, alpha 1, without stop codon, in Flexi system.
JD020180 - Sequence 1204 from Patent EP1572962.
JD032226 - Sequence 13250 from Patent EP1572962.
DQ655926 - Homo sapiens clone UGL12a05, mRNA sequence.
JD095491 - Sequence 76515 from Patent EP1572962.
JD216739 - Sequence 197763 from Patent EP1572962.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: ENST00000251595.1, ENST00000251595.10, ENST00000251595.2, ENST00000251595.3, ENST00000251595.4, ENST00000251595.5, ENST00000251595.6, ENST00000251595.7, ENST00000251595.8, ENST00000251595.9, HBA1, HBA_HUMAN, NM_000517, P01922, P69905, Q1HDT5, Q3MIF5, Q53F97, Q96KF1, Q9NYR7, Q9UCM0, uc317feq.1, uc317feq.2
UCSC ID: ENST00000251595.11_5
RefSeq Accession: NM_000517.6
Protein: P69905
(aka HBA_HUMAN)
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GeneReviews for This Gene
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GeneReviews article(s) related to gene HBA2:
a-thal (Alpha-Thalassemia)
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Gene Model Information
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Click here
for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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US Server
