H2-Q4 histocompatibility 2, Q region locus 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H2-Q4provided by MGI
Official Full Name: histocompatibility 2, Q region locus 4provided by MGI
Primary source: MGI:MGI:95933
See related: Ensembl:ENSMUSG00000035929 AllianceGenome:MGI:95933
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: Qa4; Qb1; Qa-4; Qb-1; H-2Q4; H2-D1; Qat-4; H2-Gs10
Summary: Predicted to enable several functions, including TAP complex binding activity; beta-2-microglobulin 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. Predicted to be located in several cellular components, including Golgi medial cisterna; cell surface; and endoplasmic reticulum exit site. Predicted to be part of MHC class I peptide loading complex; MHC class I protein complex; and MHC class Ib protein complex. Predicted to be active in external side of plasma membrane and extracellular space. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and small intestine. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); 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: Broad expression in spleen adult (RPKM 142.4), lung adult (RPKM 94.0) and 16 other tissues See more
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Genomic context

Location:: 17 B1; 17 18.65 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35598593..35603650)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (35379617..35384674)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

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General gene information

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Markers

H2-Q4 (e-PCR), detects polymorphism
- UniSTS:525233

H2-Q4 (e-PCR), detects polymorphism
- UniSTS:143309

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 TAP complex binding	ISO Inferred from Sequence Orthology more info
enables beta-2-microglobulin 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 peptide binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	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

Process	Evidence Code	Pubs
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi medial cisterna	ISO Inferred from Sequence Orthology more info
part_of MHC class I peptide loading complex	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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum exit site	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 plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: histocompatibility 2, Q region locus 4

Names: MHC class I like protein GS10; MHC class II antigen D

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_001143689.1 → NP_001137161.1 histocompatibility 2, Q region locus 4 precursor

See identical proteins and their annotated locations for NP_001137161.1

Status: VALIDATED

Source sequence(s)

AB267092, AK037574

Consensus CDS

CCDS50087.1

UniProtKB/TrEMBL

Q8HWB2, Q95H92

Related

ENSMUSP00000080159.5, ENSMUST00000081435.5

Conserved Domains (2) summary

cd07698
Location:232 → 324

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

pfam00129
Location:50 → 228

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2