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H2-M2 histocompatibility 2, M region locus 2 [ Mus musculus (house mouse) ]

Gene ID: 14990, updated on 27-Nov-2024

Summary

Official Symbol
H2-M2provided by MGI
Official Full Name
histocompatibility 2, M region locus 2provided by MGI
Primary source
MGI:MGI:95914
See related
Ensembl:ENSMUSG00000016283 AllianceGenome:MGI:95914
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-2M2; Thy19.4
Summary
Predicted to enable several functions, including 14-3-3 protein binding activity; TAP binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib; and positive regulation of T cell mediated cytotoxicity. Located in cell surface. Is expressed in several structures, including brain; genitourinary system; immune system; integument; and liver. Human ortholog(s) of this gene implicated in several diseases, including Stevens-Johnson syndrome; asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in thymus adult (RPKM 6.1), mammary gland adult (RPKM 5.0) and 4 other tissues See more
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Genomic context

See H2-M2 in Genome Data Viewer
Location:
17 B1; 17 19.16 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (37791742..37794445, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (37480851..37483554, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 11 subfamily A member 6, pseudogene 1 Neighboring gene olfactory receptor family 12 subfamily D member 17 Neighboring gene olfactory receptor family 5 subfamily V member 1 Neighboring gene olfactory receptor family 5 subfamily V member 1B

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 14-3-3 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables CD8 receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables MHC class I protein binding ISO
Inferred from Sequence Orthology
more info
 
enables T cell receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP1 binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP2 binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-2-microglobulin binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables natural killer cell lectin-like receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables peptide antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables peptide antigen binding ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-folding chaperone binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
 
part_of MHC class I protein complex ISO
Inferred from Sequence Orthology
more info
 
part_of MHC class Ib protein complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in cis-Golgi network membrane ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
histocompatibility 2, M region locus 2

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)

  1. NM_001347387.1NP_001334316.1  histocompatibility 2, M region locus 2 precursor

    Status: VALIDATED

    Source sequence(s)
    CR974427
    Consensus CDS
    CCDS84312.1
    UniProtKB/TrEMBL
    Q6W9J9, Q6W9K4, Q6W9L1
    Related
    ENSMUSP00000131297.3, ENSMUST00000171139.3

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

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    37791742..37794445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_008204.2: Suppressed sequence

    Description
    NM_008204.2: This RefSeq was removed because currently there is insufficient support for the transcript and protein.