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H2-Aa Gene Detail
Summary
  • Symbol
    H2-Aa
  • Name
    histocompatibility 2, class II antigen A, alpha
  • Synonyms
    Aalpha, A alpha, H-2Aa, Ia1, Ia-1, I-Aalpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:95895
    NCBI Gene: 14960
Location & Maps
more
  • Sequence Map
    Chr17:34282744-34287827 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5084 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1
    Orthology source: HomoloGene
  • Synonyms
    CD, CELIAC1, DQ-A1, GSE, HLA-DQA
  • Links
    NCBI Gene ID: 3117
    neXtProt AC: NX_P01909

  • Chr Location
    6p21.3; chr6:32637396-32654774 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HLA-DQA1 associations

Human Disease Mouse Models
       Celiac Disease, Susceptibility to, 1; CELIAC1   OMIM: 212750
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    46 phenotypes from multigenic genotypes
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Targeted
    3
  • Transgenic
    5
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a knock-out allele lack cell surface expression of MHC class II molecules on macrophages and show decreased CD4-positive T cell number, increased CD8-positive T cell number, thymus hyperplasia, enlarged lymph nodes, and altered splenocyte response to staphylococcal enterotoxin B.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037121 VEGA Gene Model | MGI Sequence Detail 5084 C57BL/6J ±  kb
transcript OTTMUST00000095576 VEGA | MGI Sequence Detail 1132 Not Applicable  
polypeptide OTTMUSP00000053329 VEGA | MGI Sequence Detail 256 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    350 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 299
    Genomic 16
    cDNA 278
    Primer pair 3
    Other 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10377, MGD-MRK-10490, MGD-MRK-11044, MGD-MRK-11049
References
more
  • Summaries
    All 107
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 17
    Phenotypes 46
  • Earliest
    J:5527 Shreffler DC, et al., The H-2 major histocompatibility complex and the I immune response region: genetic variation, function, and organization. Adv Immunol. 1975;20:125-95
  • Latest
    J:217196 Guery L, et al., Ag-presenting CpG-activated pDCs prime Th17 cells that induce tumor regression. Cancer Res. 2014 Nov 15;74(22):6430-40

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory