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H2-D1 Gene Detail
Summary
  • Symbol
    H2-D1
  • Name
    histocompatibility 2, D region locus 1
  • Synonyms
    H-2D
  • Feature Type
    protein coding gene
  • IDs
    MGI:95896
    NCBI Gene: 14964
  • Gene Overview
    MyGene.info: HLA-A
Location & Maps
more
  • Sequence Map
    Chr17:35262730-35267499 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4770 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 18.61 cM
  • Mapping Data
    59 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
  • Vertebrate Orthologs
    57
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
    Orthology source: HomoloGene
  • Synonyms
    Aw-33, Aw-74, HLAA, HLA-A11, HLA-A33, HLA-DQB1, HLA-DRB1
  • Links
    NCBI Gene ID: 3105
    neXtProt AC: NX_P04439, NX_P30443

  • Chr Location
    6p21.3; chr6:29942470-29945884 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Severe Cutaneous Adverse Reaction, Susceptibility to   OMIM: 608579
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    10 phenotypes from multigenic genotypes
    137 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
    6
  • Spontaneous
    2
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    1 involving H2-D1
  • Incidental Mutations
Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice.
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 OTTMUSG00000037094 VEGA Gene Model | MGI Sequence Detail 4770 C57BL/6J ±  kb
transcript OTTMUST00000095494 VEGA | MGI Sequence Detail 2102 Not Applicable  
polypeptide OTTMUSP00000053284 VEGA | MGI Sequence Detail 362 Not Applicable  
For the selected sequence
Polymorphisms
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Protein
Information
less
Molecular
Reagents
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  • All nucleic 115
    Genomic 92
    cDNA 18
    Primer pair 4
    Other 1

    Microarray probesets 11
Other
Accession IDs
less
MGD-MRK-10379, MGD-MRK-10492
References
more
  • Summaries
    All 241
    Developmental Gene Expression 8
    Gene Ontology 10
    Phenotypes 137
  • Earliest
    J:106349 Melvold RW, et al., Eight new histocompatibility mutations associated with the H-2 complex. Immunogenetics. 1976;3:185-191
  • Latest
    J:222732 Rouhani SJ, et al., Roles of lymphatic endothelial cells expressing peripheral tissue antigens in CD4 T-cell tolerance induction. Nat Commun. 2015;6:6771

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
07/19/2016
MGI 6.04
The Jackson Laboratory