HBB hemoglobin subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBBprovided by HGNC
Official Full Name: hemoglobin subunit betaprovided by HGNC
Primary source: HGNC:HGNC:4827
See related: Ensembl:ENSG00000244734 MIM:141900; AllianceGenome:HGNC:4827
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECYT6; CD113t-C; beta-globin
Summary: 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]
Orthologs: all
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5225464..5227071, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5284832..5286439, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5246694..5248301, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels.
Title: Post-GWAS Validation of Target Genes Associated with HbF and HbA(2) Levels.
HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway.
Title: HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway.
beta[0]-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Title: β(0)-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Two novel deletion mutations in beta-globin gene cause beta-thalassemia trait in two Chinese families.
Title: Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.
Title: Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.
Mutation Spectrum of beta-Globin Gene in Patients with beta-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia.
Title: Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia.
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Title: The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Spectrum Of HBB Gene Variants And Major Endocrine Complications In Thalassemia Patients Of Pakistan.
Title: Spectrum Of HBB Gene Variants And Major Endocrine Complications In Thalassemia Patients Of Pakistan.
Transfusion requirements and complication rate in beta-thalassemia intermedia due to heterozygous beta-globin gene mutation and triplicated alpha-globin genes.
Title: Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.
Dominant inherited beta-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.
Title: Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Submit: New GeneRIF Correction See all GeneRIFs (458)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
alpha Thalassemia MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia	Compare labs
beta Thalassemia MedGen: C0005283 GeneReviews: Beta-Thalassemia	Compare labs
Beta-thalassemia HBB/LCRB MedGen: CN322236 OMIM: 613985 GeneReviews: Beta-Thalassemia	Compare labs
Dominant beta-thalassemia MedGen: C1858990 OMIM: 603902 GeneReviews: Not available	Compare labs
Erythrocytosis, familial, 6 MedGen: C4693822 OMIM: 617980 GeneReviews: Not available	Compare labs
Hb SS disease MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease	Compare labs
Heinz body anemia MedGen: C0700299 OMIM: 140700 GeneReviews: Not available	Compare labs
Hereditary persistence of fetal hemoglobin MedGen: C0019025 OMIM: 141749 GeneReviews: Not available	Compare labs
Malaria, susceptibility to MedGen: C1970028 OMIM: 611162 GeneReviews: Not available	Compare labs
METHEMOGLOBINEMIA, BETA TYPE MedGen: C1840779 OMIM: 617971 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide and fine-resolution association analysis of malaria in West Africa. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study indicates two novel resistance loci for severe malaria. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Imputation-based meta-analysis of severe malaria in three African populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of HBB	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD02553 (e-PCR)
- UniSTS:283648

REN97346 (e-PCR)
- UniSTS:422144

REN97347 (e-PCR)
- UniSTS:422145

REN97348 (e-PCR)
- UniSTS:422146

REN97349 (e-PCR)
- UniSTS:422147

REN97350 (e-PCR)
- UniSTS:422148

PMC310725P2 (e-PCR)
- UniSTS:272645

REN97351 (e-PCR)
- UniSTS:422149

REN97352 (e-PCR)
- UniSTS:422150

REN97353 (e-PCR)
- UniSTS:422151

REN97354 (e-PCR)
- UniSTS:422152

REN97355 (e-PCR)
- UniSTS:422153

REN97356 (e-PCR)
- UniSTS:422154

REN97357 (e-PCR)
- UniSTS:422155

REN97358 (e-PCR)
- UniSTS:422156

REN97359 (e-PCR)
- UniSTS:422157

REN97360 (e-PCR)
- UniSTS:422158

GDB:177422 (e-PCR)
- UniSTS:154896

GDB:632696 (e-PCR)
- UniSTS:158486

HBB (e-PCR), detects polymorphism
- UniSTS:266520

PMC104188P1 (e-PCR)
- UniSTS:270104

PMC99844P2 (e-PCR)
- UniSTS:273688

REN97385 (e-PCR)
- UniSTS:422183

PMC120089P1 (e-PCR)
- UniSTS:270378

STS-L48931 (e-PCR)
- UniSTS:16426

PMC133721P1 (e-PCR)
- UniSTS:270640

PMC139788P3 (e-PCR)
- UniSTS:270896

PMC133732P7 (e-PCR)
- UniSTS:270647

GDB:177671 (e-PCR)
- UniSTS:154946

GDB:177704 (e-PCR)
- UniSTS:154949

PMC86017P3 (e-PCR)
- UniSTS:273506

PMC86017P4 (e-PCR)
- UniSTS:273507

PMC86017P6 (e-PCR)
- UniSTS:273508

PMC86017P7 (e-PCR)
- UniSTS:273509

PMC133948P1 (e-PCR)
- UniSTS:270694

PMC316536P5 (e-PCR)
- UniSTS:273001

PMC110379P1 (e-PCR)
- UniSTS:270188

ECD04215 (e-PCR)
- UniSTS:285293

PMC110716P1 (e-PCR)
- UniSTS:270195

PMC110756P1 (e-PCR)
- UniSTS:270197

PMC24545P1 (e-PCR)
- UniSTS:272263

PMC111966P1 (e-PCR)
- UniSTS:270223

RH41842 (e-PCR)
- UniSTS:41617

PMC86936P4 (e-PCR)
- UniSTS:273563

GDB:599270 (e-PCR)
- UniSTS:158111

GDB:178694 (e-PCR)
- UniSTS:155040

RH69634 (e-PCR)
- UniSTS:50848

D11S1382 (e-PCR)
- UniSTS:148642

PMC153763P1 (e-PCR)
- UniSTS:271269

D11F194S1E (e-PCR)
- UniSTS:58277

PMC113011P1 (e-PCR)
- UniSTS:270247

GDB:181599 (e-PCR)
- UniSTS:155306

GDB:269987 (e-PCR)
- UniSTS:156343

PMC87307P1 (e-PCR)
- UniSTS:273594

PMC87731P1 (e-PCR)
- UniSTS:273597

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:499134

PMC126094P1 (e-PCR)
- UniSTS:270528

PMC114582P1 (e-PCR)
- UniSTS:270273

PMC88635P1 (e-PCR)
- UniSTS:273603

GDB:177071 (e-PCR)
- UniSTS:154822

PMC149569P1 (e-PCR)
- UniSTS:271048

PMC150227P2 (e-PCR)
- UniSTS:271056

ECD05616 (e-PCR)
- UniSTS:286679

PMC115301P1 (e-PCR)
- UniSTS:270300

ECD16422 (e-PCR)
- UniSTS:297437

PMC102046P2 (e-PCR)
- UniSTS:270067

GDB:196974 (e-PCR)
- UniSTS:155900

PMC102168P1 (e-PCR)
- UniSTS:270077

REN97344 (e-PCR)
- UniSTS:422142

REN97345 (e-PCR)
- UniSTS:422143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to haptoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin alpha binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	IDA Inferred from Direct Assay more info	PubMed
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	NAS Non-traceable Author Statement more info	PubMed
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel diameter maintenance	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in oxygen transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oxygen transport	NAS Non-traceable Author Statement more info	PubMed
involved_in oxygen transport	TAS Traceable Author Statement more info	PubMed
involved_in platelet aggregation	HMP more info	PubMed
involved_in positive regulation of nitric oxide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in renal absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of haptoglobin-hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of hemoglobin complex	NAS Non-traceable Author Statement more info	PubMed
part_of hemoglobin complex	TAS Traceable Author Statement more info	PubMed
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: hemoglobin subunit beta

Names: beta globin chain; hemoglobin beta subunit; hemoglobin, beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.