A·TA·TA·TC·GC·GG·CA·TT·AT·AG·C
Xysera Locus
SourcesHuman / GRCh38
Gene/Homo sapiens

HBB

hemoglobin subunit beta

11p15.4chr11:5,225,464–5,229,395- strandGRCh38
Record assembledPartial sources
Type
Protein Coding
Chromosome
chr11
NCBI Gene ID
3043
Ensembl Gene ID
ENSG00000244734
Aliases
CD113t-C · ECYT6 · beta-globin
Chromosome locatorchr11
HBB
pter · 0 Mb11p15.4135 Mb · qter
Partial recordPhenotype associations are temporarily unavailable.
01/

Gene structure

Source / Ensembl · GRCh38
3exons
3,932genomic bp
Viewing transcriptHBB-201
Transcript context19 isoforms
Displayed isoform
protein coding444 bp CDS
3′5′Exon 1: 5,225,464–5,225,726 (263 bp)EXON 15,225,464–5,225,726 · 263 bpExon 2: 5,226,577–5,226,799 (223 bp)EXON 25,226,577–5,226,799 · 223 bpExon 3: 5,226,930–5,227,071 (142 bp)EXON 35,226,930–5,227,071 · 142 bp5,225,4645,225,8665,226,2685,226,6695,227,071
Select an exon

Click an exon block to inspect its genomic coordinates and length.

CDS UTR / non-coding exon Intron · Proportional genomic coordinates

02/

Function

Source / NCBI Gene

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

03/

Protein

Source / UniProtKB · Reviewed

Recommended name

Hemoglobin subunit beta

Accession
P68871
Length
147 aa
Status
Reviewed
1147 aa
  • Globin3–147
Functional annotations1 curated statements
  1. 01

    Involved in oxygen transport from the lung to the various peripheral tissues

SourcesUniProtKB / P68871 ↗
04/

Expression

Source / Human Protein Atlas
Top 10 consensus tissues
RNA expression · nTPM

Hover a bar for its exact value. Linear scale preserves proportional differences. · HPA consensus tissue dataset.

05/

Associated conditions

Source / Ensembl Phenotypes
No phenotype associations were returned by the source.

Associations are reproduced from the named sources and do not independently establish causality. Not for clinical interpretation.

06/

Literature

Source / PubMed
  1. 2022
    Thalassemia in Malaysia.

    Alwi ZB, Syed-Hassan SR

    Hemoglobin · PMID 35950577

    ↗
  2. 2021
    Evolutionary history of sickle-cell mutation: implications for global genetic medicine.

    Esoh K, Wonkam A

    Human molecular genetics · PMID 33461216

    ↗
  3. 2021
    Base editing of haematopoietic stem cells rescues sickle cell disease in mice.

    Newby GA, Yen JS, Woodard KJ, Mayuranathan T, Lazzarotto CR, et al.

    Nature · PMID 34079130

    ↗
  4. 2015
    CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes.

    Liang P, Xu Y, Zhang X, Ding C, Huang R, et al.

    Protein & cell · PMID 25894090

    ↗
  5. 2016
    CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells.

    Dever DP, Bak RO, Reinisch A, Camarena J, Washington G, et al.

    Nature · PMID 27820943

    ↗
07/

Sources & identifiers

Identity · function · literatureNCBIGene 3043Coordinates · transcript · phenotypeEnsemblENSG00000244734Protein annotationUniProtKBP68871Research literaturePubMed5 selected records
Xysera Locus

Research and educational information only. Not medical advice.

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