HBA2 (hemoglobin subunit alpha 2)

2013-08-01  

Identity

HGNC
HBA2
LOCATION
16p13.3
LOCUSID
3040
ALIAS
ECYT7,HBA-T2,HBH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3040
MIM: 141850
HGNC: 4824
Ensembl: ENSG00000188536

Variants:

dbSNP: 3040
ClinVar: 3040
TCGA: ENSG00000188536
COSMIC: HBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188536ENST00000251595P69905
ENSG00000188536ENST00000251595D1MGQ2
ENSG00000188536ENST00000397806G3V1N2
ENSG00000188536ENST00000484216A0A2R8Y7C0

Expression (GTEx)

0
10000
20000
30000
40000
50000
60000
70000
80000
90000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MalariaKEGGko05144
MalariaKEGGhsa05144
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385423742024Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.1
386262342024Hb H disease associated with compound heterozygosity for --(SEA) deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.0
386608612024[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].0
389269922024[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].0
385423742024Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.1
386262342024Hb H disease associated with compound heterozygosity for --(SEA) deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.0
386608612024[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].0
389269922024[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].0
365721392023Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing.1
369392732023Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.0
370985942023Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.1
372131762023Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).0
375190972023Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.0
375483292023Detecting rare thalassemia in children with anemia using third-generation sequencing.0
381234762023Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults.0

Citation

Dessen P

HBA2 (hemoglobin subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-08-01

Online version: http://atlasgeneticsoncology.org/gene/53728/hba2-(hemoglobin-subunit-alpha-2)