H2-Oa histocompatibility 2, O region alpha locus [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H2-Oaprovided by MGI
Official Full Name: histocompatibility 2, O region alpha locusprovided by MGI
Primary source: MGI:MGI:95924
See related: Ensembl:ENSMUSG00000024334 AllianceGenome:MGI:95924
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: H-2Oa
Summary: Predicted to enable MHC class II protein complex binding activity and peptide antigen binding activity. Acts upstream of or within antigen processing and presentation of exogenous peptide antigen via MHC class II and regulation of T cell differentiation. Predicted to be part of MHC class II protein complex. Predicted to be active in late endosome membrane and lysosomal membrane. Is expressed in several structures, including central nervous system; cornea; genitourinary system; palatal shelf; and salivary gland primordium. Human ortholog(s) of this gene implicated in occupational asthma. Orthologous to human HLA-DOA (major histocompatibility complex, class II, DO alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in spleen adult (RPKM 116.7), thymus adult (RPKM 40.6) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 17.98 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (34311353..34314286)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34092379..34095234)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proper development of long-lived memory CD4 T cells requires HLA-DO function.
Title: Proper development of long-lived memory CD4 T cells requires HLA-DO function.
Mouse MHC class II chaperone H2-O antigen affects the repertoire of presented self-peptides by B cells and thymic epithelium. H2-O induces differential effects on epitope presentation and thymic selection, thereby altering CD4 T-cell precursor frequencies. Lack of H2-O increases autoreactivity and susceptibility to autoimmune disease development.
Title: Lack of the MHC class II chaperone H2-O causes susceptibility to autoimmune diseases.
investigated H2-O, H2-M, and I-A(b)-CLIP expression patterns in B cell subsets during B cell development and activation
Title: Expression patterns of H2-O in mouse B cells and dendritic cells correlate with cell function.
H2-O predominantly inhibits antigen presentation in early endosomal compartments. Thus, H2-O appears to skew peptide loading to late endosomal/lysosomal compartments. This may favor presentation of antigens taken up by the B cell receptor.
Title: Downmodulation of antigen presentation by H2-O in B cell lines and primary B lymphocytes.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (2) 1 citation
Transgenic (1) 1 citation

General gene information

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Markers

D17Dgm3 (e-PCR), detects polymorphism
- UniSTS:142114

M95514 (e-PCR)
- UniSTS:125005

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables MHC class II protein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables MHC class II protein complex binding	ISO Inferred from Sequence Orthology more info
enables peptide antigen binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within antigen processing and presentation of exogenous peptide antigen via MHC class II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of antigen processing and presentation of peptide antigen via MHC class II	ISO Inferred from Sequence Orthology more info
involved_in peptide antigen assembly with MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of immune response	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MHC class II protein complex	ISO Inferred from Sequence Orthology more info
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: histocompatibility 2, O region alpha locus

Names: MHC class II antigen O region alpha locus

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_008206.2 → NP_032232.2 histocompatibility 2, O region alpha locus precursor

See identical proteins and their annotated locations for NP_032232.2

Status: VALIDATED

Source sequence(s)

AK020594, BC138996, CO795887

Consensus CDS

CCDS37577.1

UniProtKB/TrEMBL

B2RST7, Q9QWV1

Related

ENSMUSP00000025192.8, ENSMUST00000025192.8

Conserved Domains (3) summary

cd05767
Location:112 → 205

IgC_MHC_II_alpha; Class II major histocompatibility complex (MHC) alpha chain immunoglobulin domain

pfam00993
Location:30 → 108

MHC_II_alpha; Class II histocompatibility antigen, alpha domain

pfam16196
Location:203 → 250

C1-set_C; C1-set C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

34311353..34314286

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160330.1 → XP_036016223.1 histocompatibility 2, O region alpha locus isoform X1

UniProtKB/TrEMBL

B2RST7

Conserved Domains (2) summary

pfam00993
Location:1 → 78

MHC_II_alpha; Class II histocompatibility antigen, alpha domain

cd21004
Location:81 → 175

IgC1_MHC_II_alpha_HLA_DO; HLA class II histocompatibility antigen DO alpha; member of the C1-set of Ig superfamily (IgSF) domains