GenTIGS

Hemoglobin subunit beta (HBB) Associated conditions: 1. Hb SS disease 2. beta 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_000518.5	NP_000509.1	NC_000011.10	(5225463..5227070, complement)	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 1872 reference articles

Variant Information Hemoglobin subunit beta (HBB) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Hemoglobin subunit beta (HBB)

ClinVar variants:Revealing mutagenic patterns

GO Term of Hemoglobin subunit beta (HBB)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	contributes_to	peroxidase activity	Function	19740759
2	Homo sapiens	IBA	enables	oxygen carrier activity	Function	-
3	Homo sapiens	IEA	enables	oxygen carrier activity	Function	-
4	Homo sapiens	NAS	enables	oxygen carrier activity	Function	1301199 11747442
5	Homo sapiens	IPI	enables	protein binding	Function	1552945 6683087 9441940 9830011 9894000 10390349 10930828 11159543 11724557 15835899 16169070 25502805 28514442 28665412 29997244 30833564 31515488 32296183 33961781 37398436
6	Homo sapiens	TAS	located_in	extracellular region	Component	-
7	Homo sapiens	IDA	located_in	extracellular space	Component	21805676
8	Homo sapiens	TAS	located_in	cytosol	Component	-
9	Homo sapiens	IBA	part_of	hemoglobin complex	Component	-
10	Homo sapiens	IDA	part_of	hemoglobin complex	Component	19740759
11	Homo sapiens	IEA	part_of	hemoglobin complex	Component	-
12	Homo sapiens	NAS	part_of	hemoglobin complex	Component	1301199 10588683
13	Homo sapiens	TAS	part_of	hemoglobin complex	Component	1540659
14	Homo sapiens	IDA	involved_in	inflammatory response	Process	19740759
15	Homo sapiens	IEA	involved_in	regulation of blood pressure	Process	-
16	Homo sapiens	NAS	involved_in	carbon dioxide transport	Process	7518430 8114096 11159543
17	Homo sapiens	IBA	involved_in	oxygen transport	Process	-
18	Homo sapiens	IDA	involved_in	oxygen transport	Process	11159543
19	Homo sapiens	IEA	involved_in	oxygen transport	Process	-
20	Homo sapiens	IMP	involved_in	oxygen transport	Process	7518430
21	Homo sapiens	NAS	involved_in	oxygen transport	Process	1301199 8114096 11747442
22	Homo sapiens	TAS	involved_in	oxygen transport	Process	1540659
23	Homo sapiens	IDA	enables	oxygen binding	Function	11747442 28066926
24	Homo sapiens	IEA	enables	oxygen binding	Function	-
25	Homo sapiens	IBA	enables	heme binding	Function	-
26	Homo sapiens	IEA	enables	heme binding	Function	-
27	Homo sapiens	IDA	involved_in	nitric oxide transport	Process	8292032
28	Homo sapiens	NAS	involved_in	nitric oxide transport	Process	8292032
29	Homo sapiens	IDA	enables	hemoglobin binding	Function	1512262
30	Homo sapiens	IDA	contributes_to	haptoglobin binding	Function	19740759
31	Homo sapiens	IBA	enables	hemoglobin alpha binding	Function	-
32	Homo sapiens	IBA	part_of	haptoglobin-hemoglobin complex	Component	-
33	Homo sapiens	IDA	part_of	haptoglobin-hemoglobin complex	Component	19740759
34	Homo sapiens	IDA	involved_in	response to hydrogen peroxide	Process	19740759
35	Homo sapiens	IDA	involved_in	hydrogen peroxide catabolic process	Process	19740759
36	Homo sapiens	NAS	involved_in	positive regulation of nitric oxide biosynthetic process	Process	7965120
37	Homo sapiens	IEA	enables	metal ion binding	Function	-
38	Homo sapiens	IBA	involved_in	erythrocyte development	Process	-
39	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145
40	Homo sapiens	IMP	involved_in	renal absorption	Process	18465053 18974585
41	Homo sapiens	HMP	involved_in	platelet aggregation	Process	23382103
42	Homo sapiens	TAS	located_in	endocytic vesicle lumen	Component	-
43	Homo sapiens	HDA	located_in	blood microparticle	Component	22516433
44	Homo sapiens	IEA	involved_in	blood vessel diameter maintenance	Process	-
45	Homo sapiens	IEA	involved_in	cellular oxidant detoxification	Process	-
46	Homo sapiens	TAS	located_in	tertiary granule lumen	Component	-
47	Homo sapiens	TAS	located_in	ficolin-1-rich granule lumen	Component	-