abnormal mast cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the granulated cells found in most tissues and which contain large amounts of histamine and heparin in granules (Mammalian Phenotype Ontology, MP_0002423)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002423
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Genes

57 gene mutations causing the abnormal mast cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ADORA3 adenosine A3 receptor
C3 complement component 3
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase
CCR3 chemokine (C-C motif) receptor 3
CD300A CD300a molecule
CD300LF CD300 molecule-like family member f
CLNK cytokine-dependent hematopoietic cell linker
CMA1 chymase 1, mast cell
CORO1A coronin, actin binding protein, 1A
DUSP1 dual specificity phosphatase 1
DUSP2 dual specificity phosphatase 2
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
GAB2 GRB2-associated binding protein 2
HRH4 histamine receptor H4
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL5 interleukin 5
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAT2 linker for activation of T cells family, member 2
LCN2 lipocalin 2
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LTB4R leukotriene B4 receptor
LTB4R2 leukotriene B4 receptor 2
MILR1 mast cell immunoglobulin-like receptor 1
MIR142 microRNA 142
MITF microphthalmia-associated transcription factor
MMP24 matrix metallopeptidase 24 (membrane-inserted)
MS4A2 membrane-spanning 4-domains, subfamily A, member 2
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
NF1 neurofibromin 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
ORAI1 ORAI calcium release-activated calcium modulator 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PADI2 peptidyl arginine deiminase, type II
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta
PLA2G3 phospholipase A2, group III
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PTGDR prostaglandin D2 receptor (DP)
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTPRC protein tyrosine phosphatase, receptor type, C
RGS13 regulator of G-protein signaling 13
RHOH ras homolog family member H
SAC3D1 SAC3 domain containing 1
SPRED1 sprouty-related, EVH1 domain containing 1
STIM1 stromal interaction molecule 1
STXBP2 syntaxin binding protein 2
TACR1 tachykinin receptor 1
TRIB3 tribbles pseudokinase 3
VAMP8 vesicle-associated membrane protein 8
WAS Wiskott-Aldrich syndrome