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FLASH GENE
Symbol HLA-DRB1 contributors: - updated : 28-04-2005
HGNC name major histocompatibility complex, class II, DR beta 1
HGNC id 4948
Corresponding disease
IDDM1 diabetes mellitus insulin-dependent 1
Location 6p21.3      Physical location : 3.720.948 - 32.557.562
Genatlas name HLA-DR, beta 1 chain, determining DR1,3,4,5...
DNA
TYPE anonymous DNA segment
MAPPING cloned Y linked Y status confirmed
Physical map
EGFL8 6p21.31 EGF-like-domain, multiple 8 AGPAT1 6p21.3 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) RNF5 6p21.31 ring finger protein 5 AGER 6p21.3 advanced glycosylation end product-specific receptor PBX2 6p21.3 pre-B-cell leukemia transcription factor 2 C6orf9 6p21.3 chromosome 6 open reading frame 9 NOTCH4 6p21.3 Notch homolog 4 (Drosophila) C6orf10 6p21.3 chromosome 6 open reading frame 10 BTNL2 6p21.3 butyrophilin-like 2 (MHC class II associated) HLA-DRA 6p21.3 major histocompatibility complex, class II, DR alpha HLA-DRB9 6p21.3 major histocompatibility complex, class II, DR beta 9 (pseudogene) HLA-DRB3 6p21.3 major histocompatibility complex, class II, DR beta 3 HLA-DRB2 6p21.3 major histocompatibility complex, class II, DR beta 2 HLA-DRB1 6p21.3 major histocompatibility complex, class II, DR beta 1 HLA-DQA1 6p21.3 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 6p21.3 major histocompatibility complex, class II, DQ beta 1 HLA-DQA2 6p21.3 major histocompatibility complex, class II, DQ alpha 2 HLA-DQB2 6p21.3 major histocompatibility complex, class II, DQ beta 2
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
 stomach    
Lymphoid/Immunelymph node   highly
Reproductivefemale systemovary   
 female systembreastmammary gland  
Respiratorylung   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY antigen
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • leukocyte antigen class II may be having a specific and central role in autoantigen presentation to T lymphocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDDM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in dorsolateral prefontal cortex of schizophrenic patient and in peripheral blood cells
    Susceptibility to IDDM1, to MS, to sarcoidosis
    Variant & Polymorphism other
  • allele DQ8-DR4/DQ2-DR3/DQ4-DR4
  • DRB11501/DRB10301/DQB10602/DQB10201 susceptibility for SLE
  • DRB1 1501/ DQB1 0602 increases the risk of MS
  • DRB1 1101,DPB1 0101 increases th risk of sarcoidosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS