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H2-Ab1 Gene Detail
Summary
  • Symbol
    H2-Ab1
  • Name
    histocompatibility 2, class II antigen A, beta 1
  • Synonyms
    Abeta, A beta, H-2Ab, H2-Ab, Ia2, Ia-2, IAb, I-Ab, I-Abeta, Rmcs1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103070
    NCBI Gene: 14961
  • Gene Overview
    MyGene.info: HLA-DQB1
Location & Maps
more
  • Sequence Map
    Chr17:34263209-34269418 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6210 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 17.98 cM
  • Mapping Data
    28 experiments
Homology
more
  • Human Ortholog
    HLA-DQB1, major histocompatibility complex, class II, DQ beta 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    HLA-DQB1, major histocompatibility complex, class II, DQ beta 1
    Orthology source: HomoloGene
  • Synonyms
    CELIAC1, HLA-DQB, HLA-DRB1, IDDM1
  • Links
    NCBI Gene ID: 3119
    neXtProt AC: NX_P01920

  • Chr Location
    6p21.3; chr6:32659464-32666689 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human HLA-DQB1 associations

Human Disease Mouse Models
       Celiac Disease, Susceptibility to, 1; CELIAC1   OMIM: 212750
Creutzfeldt-Jakob Disease; CJD   OMIM: 123400
Multiple Sclerosis, Susceptibility To; MS   OMIM: 126200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 11 alleles in 16 genetic backgrounds
    67 phenotypes from multigenic genotypes
    541 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.
  • All Mutations and Alleles
    20
  • Endonuclease-mediated
    1
  • Spontaneous
    1
  • Targeted
    11
  • Transgenic
    7
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, and increased susceptibility to viral infections.
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 OTTMUSG00000037120 VEGA Gene Model | MGI Sequence Detail 6210 C57BL/6J ±  kb
transcript OTTMUST00000095573 VEGA | MGI Sequence Detail 1211 Not Applicable  
polypeptide OTTMUSP00000053328 VEGA | MGI Sequence Detail 265 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    5 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 190
    Genomic 30
    cDNA 154
    Primer pair 4
    Other 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10378, MGD-MRK-10491, MGD-MRK-11045, MGD-MRK-11050, MGD-MRK-23932, MGI:1890696, MGI:2146934
References
more
  • Summaries
    All 633
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 20
    Phenotypes 541
  • 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:232395 Serr I, et al., Type 1 diabetes vaccine candidates promote human Foxp3(+)Treg induction in humanized mice. Nat Commun. 2016;7:10991

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
07/12/2016
MGI 6.04
The Jackson Laboratory