abnormal langerhans cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description atypical or failure of normal function of the stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus (Mammalian Phenotype Ontology, MP_0005362)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005362
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16 gene mutations causing the abnormal langerhans cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AHR aryl hydrocarbon receptor
CCR2 chemokine (C-C motif) receptor 2
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
FSCN1 fascin actin-bundling protein 1
IFNG interferon, gamma
IL10 interleukin 10
IL17A interleukin 17A
IL21R interleukin 21 receptor
MITF microphthalmia-associated transcription factor
MMP9 matrix metallopeptidase 9
PTGER4 prostaglandin E receptor 4 (subtype EP4)
SIRPA signal-regulatory protein alpha
SUCNR1 succinate receptor 1
TUB tubby bipartite transcription factor
XPA xeroderma pigmentosum, complementation group A