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H2-Ab1 Gene Detail
Summary
  • Symbol
    H2-Ab1
  • Name
    histocompatibility 2, class II antigen A, beta 1
  • Synonyms
    A beta, Abeta, H2-Ab, H-2Ab, Ia-2, Ia2, I-Ab, IAb, I-Abeta, Rmcs1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103070
    NCBI Gene: 14961
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34482201-34488392 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
    28 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    9
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103070
 protein coding gene Chr17:34476663-34488393 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023567
 protein coding gene Chr17:34268403-34275168 (+)
A/J MGP_AJ_G0023529
 protein coding gene Chr17:33095006-33103871 (+)
AKR/J MGP_AKRJ_G0023494
 protein coding gene Chr17:33488456-33496472 (+)
BALB/cJ MGP_BALBcJ_G0023533
 protein coding gene Chr17:33259911-33265230 (+)
C3H/HeJ MGP_C3HHeJ_G0023293
 protein coding gene Chr17:33838403-33847647 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023973
 protein coding gene Chr17:35554880-35562569 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021452
 protein coding gene Chr17:31071247-31077676 (+)
CAST/EiJ MGP_CASTEiJ_G0022793
 protein coding gene Chr17:33938087-33943436 (+)
CBA/J MGP_CBAJ_G0023271
 protein coding gene Chr17:37015856-37027203 (+)
DBA/2J MGP_DBA2J_G0023400
 protein coding gene Chr17:32447413-32452732 (+)
FVB/NJ MGP_FVBNJ_G0023366
 protein coding gene Chr17:32307532-32312847 (+)
LP/J MGP_LPJ_G0023477
 protein coding gene Chr17:34525045-34533196 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023389
 protein coding gene Chr17:35980747-35986086 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024016
 protein coding gene Chr17:33823046-33829408 (+)
PWK/PhJ MGP_PWKPhJ_G0022543
 protein coding gene Chr17:31382058-31387386 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022358
 protein coding gene Chr17:31777897-31783693 (+)
WSB/EiJ MGP_WSBEiJ_G0022854
 protein coding gene Chr17:33857283-33863269 (+)



Homology
more
  • Human Ortholog
    HLA-DQB1, major histocompatibility complex, class II, DQ beta 1
  • Vertebrate Orthologs
    13
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HLA-DQB1, major histocompatibility complex, class II, DQ beta 1
  • Synonyms
    CELIAC1, HLA-DQB, IDDM1
  • Links
    NCBI Gene ID: 3119
    neXtProt AC: NX_P01920
    UniProt: P01920

  • Chr Location
    6p21.32; chr6:32659467-32668383 (-)  GRCh38
  • Human Ortholog
    HLA-DQB2, major histocompatibility complex, class II, DQ beta 2
  • Synonyms
    DQB2, HLA-DQB1, HLA-DXB
  • Links
    NCBI Gene ID: 3120
    neXtProt AC: NX_P05538
    UniProt: P05538

  • Chr Location
    6p21.32; chr6:32756098-32763532 (-)  GRCh38
Human Diseases
more
  • Diseases
    103 with human HLA-DQB1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    67 phenotypes from 11 alleles in 16 genetic backgrounds
    66 phenotypes from multigenic genotypes
    968 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.
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
less
  • All GO Annotations
    26
  • GO References
    19
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
membraneless 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
    735
  • Tissues
    23
  • cDNA Data
    155
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14961 NCBI Gene Model | MGI Sequence Detail 6192 C57BL/6J ±  kb
    transcript NM_207105 RefSeq | MGI Sequence Detail 1193 ZRU/MplStud  
    polypeptide P14483 UniProt | EBI | MGI Sequence Detail 265 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 193
      Genomic 30
      cDNA 156
      Primer pair 5
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10378, MGD-MRK-10491, MGD-MRK-11045, MGD-MRK-11050, MGD-MRK-23932, MGI:1890696, MGI:2146934
    References
    more
    • Summaries
      All 1095
      Developmental Gene Expression 12
      Diseases 5
      Gene Ontology 19
      Phenotypes 968
    • 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:354876 Brabec T, et al., Segmented filamentous bacteria-induced epithelial MHCII regulates cognate CD4+ IELs and epithelial turnover. J Exp Med. 2024 Jan 1;221(1)
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory