Hbb-b2 hemoglobin, beta adult minor chain [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hbb-b2provided by MGI
Official Full Name: hemoglobin, beta adult minor chainprovided by MGI
Primary source: MGI:MGI:96022
See related: AllianceGenome:MGI:96022
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hbb2; Hbbt2; beta2
Summary: This gene encodes a beta polypeptide chain found in adult hemoglobin, which consists of a tetramer of two alpha chains and two beta chains, and which functions in the transport of oxygen to various peripheral tissues. This gene is one of a cluster of beta-hemoglobin genes that are distally regulated by a locus control region, and which are organized along the chromosome in the order of their developmental expression. In mouse, two major strain-specific haplotypes of the beta-globin gene cluster are found - a "single" haplotype found in C57BL/-type strains, which includes two highly similar adult beta-globin genes, beta s and beta t, and a "diffuse" haplotype found in strains such as BALB/c and 129Sv, which includes two somewhat diverse adult beta-globin genes, beta-major and beta-minor. This gene represents the beta-minor adult gene found in the "diffuse" haplotype. Primary chromosome 7 of the mouse reference genome assembly, which is derived from C57BL/6 strain mice, represents the "single" haplotype, while the "diffuse" haplotype is represented in the reference genome collection by the BALB/c strain alternate contig, NT_095534.1. [provided by RefSeq, May 2013]
Annotation information: not in current annotation release
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Genomic context

Location:: 7 E3; 7 54.85 cM

Annotation release	Status	Assembly	Chr	Location
108.20200622	latest, but not current	GRCm38.p6 (GCF_000001635.26)	7 Unlocalized Scaffold (BALB/c)	NT_095534.1 (53494..54867)

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A mutation in the mouse Hbb-b2 gene precisely mimics the human hemoglobin Hotel Dieu variant, and results in increased affinity of Hb for oxygen, elevated erythropoietin levels and splenomegaly with excess erythropoiesis.
Title: Thrombocytopenia and erythrocytosis in mice with a mutation in the gene encoding the hemoglobin β minor chain.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516684

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:256863

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:525965

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516509

AI036344 (e-PCR)
- UniSTS:165546

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

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:516561

Hbb-b2 (e-PCR), detects polymorphism
- UniSTS:516562

Hbb-b1 (e-PCR), detects polymorphism
- UniSTS:259550

Hbb-b2 (e-PCR), detects polymorphism
- UniSTS:143327

Hbb-b2 (e-PCR), detects polymorphism
- UniSTS:143328

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to haptoglobin binding	ISO Inferred from Sequence Orthology more info
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 alpha binding	ISO Inferred from Sequence Orthology more info
enables hemoglobin beta binding	ISO Inferred from Sequence Orthology more info
enables hemoglobin binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables organic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to oxygen binding	ISO Inferred from Sequence Orthology more info
enables oxygen binding	ISO Inferred from Sequence Orthology more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within erythrocyte development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oxygen transport	IEA Inferred from Electronic Annotation more info
involved_in oxygen transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of haptoglobin-hemoglobin complex	ISO Inferred from Sequence Orthology more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of hemoglobin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hemoglobin subunit beta-2

Names: beta min; beta minor globin

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.

mRNA and Protein(s)

NM_016956.3 → NP_058652.1 hemoglobin subunit beta-2

See identical proteins and their annotated locations for NP_058652.1

Status: VALIDATED

Source sequence(s)

X14061

UniProtKB/Swiss-Prot

P02089, Q5D0E8

UniProtKB/TrEMBL

A8DV41, A8DV59, D0U285, D4N6N2, D4N6N9, Q549D9, Q54AH9

Conserved Domains (1) summary

cd08925
Location:7 → 146

Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits