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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
  • Alliance
  • Transcription Start Sites
    20 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:35482070-35486473 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 18.61 cM
  • Mapping Data
    59 experiments
Strain
Comparison
more
  • Strain Annotations
    12
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95896
protein coding gene Chr17:35481706-35486475 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023634
protein coding gene Chr17:35417236-35422003 (+)
A/J MGP_AJ_G0023627
protein coding gene Chr17:35304678-35308941 (-)
AKR/J MGP_AKRJ_G0023562
protein coding gene Chr17:34732244-34951224 (+)
BALB/cJ MGP_BALBcJ_G0023515
protein coding gene Chr17:32956396-32961399 (-)
C3H/HeJ MGP_C3HHeJ_G0023361
protein coding gene Chr17:35118094-35300641 (+)
C57BL/6NJ no annotation
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J MGP_CBAJ_G0023339
protein coding gene Chr17:38271082-38643035 (+)
DBA/2J no annotation
FVB/NJ MGP_FVBNJ_G0023434
protein coding gene Chr17:33406139-33408496 (+)
LP/J MGP_LPJ_G0023544
protein coding gene Chr17:35744980-35751057 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023456
protein coding gene Chr17:37198906-37205360 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023998
protein coding gene Chr17:33533763-33540308 (-)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0022837
protein coding gene Chr17:33523155-33547904 (-)



Homology
more
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
  • Vertebrate Orthologs
    24
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
  • Synonyms
    HLAA
  • Links
    NCBI Gene ID: 3105
    neXtProt AC: NX_P04439
    UniProt: P04439

  • Chr Location
    6p22.1; chr6:29941260-29949572 (+)  GRCh38

  • Human Ortholog
    HLA-B, major histocompatibility complex, class I, B
  • Synonyms
    AS, B-4901, HLAB
  • Links
    NCBI Gene ID: 3106
    neXtProt AC: NX_P01889
    UniProt: P01889

  • Chr Location
    6p21.33; chr6:31353872-31367067 (-)  GRCh38

  • Human Ortholog
    HLA-C, major histocompatibility complex, class I, C
  • Synonyms
    D6S204, HLAC, HLA-JY3, HLC-C, MHC, PSORS1
  • Links
    NCBI Gene ID: 3107
    neXtProt AC: NX_P10321
    UniProt: P10321

  • Chr Location
    6p21.33; chr6:31268749-31272130 (-)  GRCh38

  • Human Ortholog
    HLA-E, major histocompatibility complex, class I, E
  • Synonyms
    HLA-6.2, QA1
  • Links
    NCBI Gene ID: 3133
    neXtProt AC: NX_P13747
    UniProt: P13747

  • Chr Location
    6p22.1; chr6:30489509-30494194 (+)  GRCh38

  • Human Ortholog
    HLA-F, major histocompatibility complex, class I, F
  • Synonyms
    CDA12, HLA-5.4, HLA-CDA12, HLAF
  • Links
    NCBI Gene ID: 3134
    neXtProt AC: NX_P30511
    UniProt: P30511

  • Chr Location
    6p22.1; chr6:29722775-29738532 (+)  GRCh38

  • Human Ortholog
    HLA-G, major histocompatibility complex, class I, G
  • Synonyms
    MHC-G
  • Links
    NCBI Gene ID: 3135
    neXtProt AC: NX_P17693
    UniProt: P17693

  • Chr Location
    6p22.1; chr6:29826474-29831125 (+)  GRCh38

  • Human Ortholog
    HLA-H, major histocompatibility complex, class I, H (pseudogene)
  • Synonyms
    HLAHP
  • Links
    NCBI Gene ID: 3136
    UniProt: P01893

  • Chr Location
    6p22.1; chr6:29887573-29891079 (+)  GRCh38

Human Diseases
more
  • Diseases
    45 with human HLA-A,HLA-B,HLA-C,HLA-E,HLA-G associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 5 alleles in 5 genetic backgrounds
    21 phenotypes from multigenic genotypes
    184 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 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
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
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14964 NCBI Gene Model | MGI Sequence Detail 4404 C57BL/6J ±  kb
    transcript NM_010380 RefSeq | MGI Sequence Detail 1736 ZRU/MplStud  
    polypeptide P14427 UniProt | EBI | MGI Sequence Detail 368 Not Applicable  
    For the selected sequence
    Protein
    Information
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    Molecular
    Reagents
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    • All nucleic 118
      Genomic 92
      cDNA 19
      Primer pair 5
      Other 2

      Microarray probesets 11
    Other
    Accession IDs
    less
    MGD-MRK-10379, MGD-MRK-10492
    References
    more
    • Summaries
      All 306
      Developmental Gene Expression 8
      Gene Ontology 11
      Phenotypes 184
    • Earliest
      J:106349 Melvold RW, et al., Eight new histocompatibility mutations associated with the H-2 complex. Immunogenetics. 1976;3:185-191
    • Latest
      J:343712 Immisch L, et al., Targeting the recurrent Rac1P29S neoepitope in melanoma with heterologous high-affinity T cell receptors. Front Immunol. 2023;14:1119498

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory