GenTIGS

Hemoglobin subunit alpha 2 (HBA2) Associated conditions: 1. alpha Thalassemia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000517.6	NP_000508.1	NC_000016.10	(172875..173709)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1341 reference articles

Variant Information Hemoglobin subunit alpha 2 (HBA2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Hemoglobin subunit alpha 2 (HBA2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Hemoglobin subunit alpha 2 (HBA2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	G protein-coupled receptor binding	Function	18077343
2	Homo sapiens	IDA	contributes_to	peroxidase activity	Function	19740759
3	Homo sapiens	IBA	enables	oxygen carrier activity	Function	-
4	Homo sapiens	IEA	enables	oxygen carrier activity	Function	-
5	Homo sapiens	IEA	enables	iron ion binding	Function	-
6	Homo sapiens	IPI	enables	protein binding	Function	881729 1552945 6683087 9441940 9830011 9894000 10390349 10930828 11159543 11724557 12072504 15550245 15835899 16169070 23123858 25156257 25416956 28665412 29997244 30833564 32296183 37398436 40205054
7	Homo sapiens	TAS	located_in	extracellular region	Component	-
8	Homo sapiens	IDA	located_in	extracellular space	Component	21805676
9	Homo sapiens	TAS	located_in	cytosol	Component	-
10	Homo sapiens	IBA	part_of	hemoglobin complex	Component	-
11	Homo sapiens	IDA	part_of	hemoglobin complex	Component	19740759
12	Homo sapiens	IEA	part_of	hemoglobin complex	Component	-
13	Homo sapiens	TAS	part_of	hemoglobin complex	Component	7555018
14	Homo sapiens	IDA	involved_in	inflammatory response	Process	19740759
15	Homo sapiens	NAS	involved_in	carbon dioxide transport	Process	881729 7518430 11159543 15449937
16	Homo sapiens	IBA	involved_in	oxygen transport	Process	-
17	Homo sapiens	IDA	involved_in	oxygen transport	Process	11159543 11307949
18	Homo sapiens	IEA	involved_in	oxygen transport	Process	-
19	Homo sapiens	IMP	involved_in	oxygen transport	Process	7518430
20	Homo sapiens	NAS	involved_in	oxygen transport	Process	881729
21	Homo sapiens	TAS	involved_in	oxygen transport	Process	7518430
22	Homo sapiens	HDA	located_in	membrane	Component	19946888
23	Homo sapiens	IEA	enables	oxygen binding	Function	-
24	Homo sapiens	IBA	enables	heme binding	Function	-
25	Homo sapiens	IEA	enables	heme binding	Function	-
26	Homo sapiens	IDA	involved_in	nitric oxide transport	Process	8292032
27	Homo sapiens	IDA	contributes_to	haptoglobin binding	Function	19740759
28	Homo sapiens	IBA	part_of	haptoglobin-hemoglobin complex	Component	-
29	Homo sapiens	IDA	part_of	haptoglobin-hemoglobin complex	Component	19740759
30	Homo sapiens	IDA	involved_in	response to hydrogen peroxide	Process	19740759
31	Homo sapiens	IDA	involved_in	hydrogen peroxide catabolic process	Process	19740759
32	Homo sapiens	IEA	enables	metal ion binding	Function	-
33	Homo sapiens	IBA	involved_in	erythrocyte development	Process	-
34	Homo sapiens	HDA	located_in	extracellular exosome	Component	20458337 23533145
35	Homo sapiens	TAS	located_in	endocytic vesicle lumen	Component	-
36	Homo sapiens	HDA	located_in	blood microparticle	Component	22516433
37	Homo sapiens	IEA	involved_in	cellular oxidant detoxification	Process	-