HBA2 (hemoglobin subunit alpha 2)

2013-08-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
ECYT7,HBA-T2,HBH
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
127306942003Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease.176
231238582012Endothelial cell expression of haemoglobin α regulates nitric oxide signalling.91
220567762012An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment.83
164185312006Coregulated human globin genes are frequently in spatial proximity when active.75
194799922009Neurons express hemoglobin alpha- and beta-chains in rat and human brains.66
223914472012ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression.48
218217112011KLF1 gene mutations cause borderline HbA(2).22
177153902007Tissue-specific histone modification and transcription factor binding in alpha globin gene expression.20
187685272008Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia.13
154499372004Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.11

Citation

Dessen P

HBA2 (hemoglobin subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-08-01

Online version: http://atlasgeneticsoncology.org/gene/53728/hba2