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H2-Aa Gene Detail
Summary
  • Symbol
    H2-Aa
  • Name
    histocompatibility 2, class II antigen A, alpha
  • Synonyms
    A alpha, Aalpha, H-2Aa, Ia-1, Ia1, I-Aalpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:95895
    NCBI Gene: 14960
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34501718-34506797 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 17.98 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    12
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95895
 protein coding gene Chr17:34501718-34506797 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023568
 protein coding gene Chr17:34289194-34294277 (-)
A/J MGP_AJ_G0023530
 protein coding gene Chr17:33120136-33125344 (-)
AKR/J MGP_AKRJ_G0023495
 protein coding gene Chr17:33510931-33516139 (-)
BALB/cJ MGP_BALBcJ_G0023534
 protein coding gene Chr17:33284380-33289485 (-)
C3H/HeJ MGP_C3HHeJ_G0023294
 protein coding gene Chr17:33864002-33869210 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023974
 protein coding gene Chr17:35575840-35580923 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021453
 protein coding gene Chr17:31091158-31096248 (-)
CAST/EiJ MGP_CASTEiJ_G0022794
 protein coding gene Chr17:33956159-33961973 (-)
CBA/J MGP_CBAJ_G0023272
 protein coding gene Chr17:37041955-37047163 (-)
DBA/2J MGP_DBA2J_G0023401
 protein coding gene Chr17:32468743-32473848 (-)
FVB/NJ MGP_FVBNJ_G0023367
 protein coding gene Chr17:32325706-32330818 (-)
LP/J MGP_LPJ_G0023478
 protein coding gene Chr17:34546686-34551840 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023390
 protein coding gene Chr17:36009501-36014609 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024017
 protein coding gene Chr17:33844316-33849389 (-)
PWK/PhJ MGP_PWKPhJ_G0022544
 protein coding gene Chr17:31406809-31411875 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022359
 protein coding gene Chr17:31802249-31807349 (-)
WSB/EiJ MGP_WSBEiJ_G0022855
 protein coding gene Chr17:33878934-33884049 (-)



Homology
more
  • Human Ortholog
    HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1
  • Vertebrate Orthologs
    8
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1
  • Synonyms
    CELIAC1, DQ-A1, DQA1, HLA-DQA, HLA-DQA1*, HLA-DQB1
  • Links
    NCBI Gene ID: 3117
    neXtProt AC: NX_P01909
    UniProt: P01909

  • Chr Location
    6p21.32; chr6:32628179-32655272 (+)  GRCh38
  • Human Ortholog
    HLA-DQA2, major histocompatibility complex, class II, DQ alpha 2
  • Synonyms
    DC-alpha, DQA1, DX-ALPHA, HLA-DCA, HLADQA2, HLA-DXA
  • Links
    NCBI Gene ID: 3118
    neXtProt AC: NX_P01906
    UniProt: P01906

  • Chr Location
    6p21.32; chr6:32741391-32747198 (+)  GRCh38
Human Diseases
more
  • Diseases
    66 with human HLA-DQA1,HLA-DQA2 associations

Human Disease Mouse Models
      
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Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    21
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    754
  • Tissues
    30
  • cDNA Data
    279
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14960 NCBI Gene Model | MGI Sequence Detail 5080 C57BL/6J ±  kb
    transcript NM_010378 RefSeq | MGI Sequence Detail 1128 ZRU/MplStud  
    polypeptide P04228 UniProt | EBI | MGI Sequence Detail 256 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 301
      Genomic 16
      cDNA 280
      Primer pair 3
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10377, MGD-MRK-10490, MGD-MRK-11044, MGD-MRK-11049
    References
    more
    • Summaries
      All 351
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 14
      Phenotypes 278
    • 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:351335 Ubogu EE, et al., Development of a major histocompatibility complex class II conditional knockout mouse to study cell-specific and time-dependent adaptive immune responses in peripheral nerves. Muscle Nerve. 2024 Jun 26;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory