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	P68871

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 1843 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	IBA	contributes_to	peroxidase activity	Function	21873635
2	Homo sapiens	IDA	contributes_to	peroxidase activity	Function	19740759
3	Homo sapiens	IBA	enables	oxygen carrier activity	Function	21873635
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 28665412 29997244 30833564 31515488 32296183
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	21873635
10	Homo sapiens	IDA	part_of	hemoglobin complex	Component	19740759
11	Homo sapiens	IPI	part_of	hemoglobin complex	Component	8114096 16765986 24100324
12	Homo sapiens	NAS	part_of	hemoglobin complex	Component	1301199 10588683
13	Homo sapiens	TAS	part_of	hemoglobin complex	Component	1540659
14	Homo sapiens	IEA	involved_in	regulation of blood pressure	Process	-
15	Homo sapiens	NAS	involved_in	carbon dioxide transport	Process	7518430 8114096 11159543
16	Homo sapiens	IDA	involved_in	oxygen transport	Process	11159543
17	Homo sapiens	IMP	involved_in	oxygen transport	Process	7518430
18	Homo sapiens	NAS	involved_in	oxygen transport	Process	1301199 8114096 11747442
19	Homo sapiens	TAS	involved_in	oxygen transport	Process	1540659
20	Homo sapiens	IBA	enables	oxygen binding	Function	21873635
21	Homo sapiens	IDA	enables	oxygen binding	Function	11747442 28066926
22	Homo sapiens	IBA	enables	heme binding	Function	21873635
23	Homo sapiens	IDA	involved_in	nitric oxide transport	Process	8292032
24	Homo sapiens	NAS	involved_in	nitric oxide transport	Process	8292032
25	Homo sapiens	IDA	enables	hemoglobin binding	Function	1512262
26	Homo sapiens	IBA	contributes_to	haptoglobin binding	Function	21873635
27	Homo sapiens	IDA	contributes_to	haptoglobin binding	Function	19740759
28	Homo sapiens	IBA	enables	hemoglobin alpha binding	Function	21873635
29	Homo sapiens	IBA	part_of	haptoglobin-hemoglobin complex	Component	21873635
30	Homo sapiens	IDA	part_of	haptoglobin-hemoglobin complex	Component	19740759
31	Homo sapiens	IDA	involved_in	response to hydrogen peroxide	Process	19740759
32	Homo sapiens	IBA	involved_in	hydrogen peroxide catabolic process	Process	21873635
33	Homo sapiens	IDA	involved_in	hydrogen peroxide catabolic process	Process	19740759
34	Homo sapiens	IBA	enables	organic acid binding	Function	21873635
35	Homo sapiens	NAS	involved_in	positive regulation of nitric oxide biosynthetic process	Process	7965120
36	Homo sapiens	IEA	enables	metal ion binding	Function	-
37	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145
38	Homo sapiens	IMP	involved_in	renal absorption	Process	18465053 18974585
39	Homo sapiens	HMP	involved_in	platelet aggregation	Process	23382103
40	Homo sapiens	TAS	located_in	endocytic vesicle lumen	Component	-
41	Homo sapiens	HDA	located_in	blood microparticle	Component	22516433
42	Homo sapiens	IEA	involved_in	blood vessel diameter maintenance	Process	-
43	Homo sapiens	IEA	involved_in	cellular oxidant detoxification	Process	-
44	Homo sapiens	TAS	located_in	tertiary granule lumen	Component	-
45	Homo sapiens	TAS	located_in	ficolin-1-rich granule lumen	Component	-