abnormal mast cell degranulation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell (Mammalian Phenotype Ontology, MP_0008763)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008763
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADORA3 adenosine A3 receptor
CCR3 chemokine (C-C motif) receptor 3
CORO1A coronin, actin binding protein, 1A
DUSP1 dual specificity phosphatase 1
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
GAB2 GRB2-associated binding protein 2
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
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
MILR1 mast cell immunoglobulin-like receptor 1
MIR142 microRNA 142
MMP24 matrix metallopeptidase 24 (membrane-inserted)
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
NF1 neurofibromin 1
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
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
RHOH ras homolog family member H
SPRED1 sprouty-related, EVH1 domain containing 1
STIM1 stromal interaction molecule 1
STXBP2 syntaxin binding protein 2
TRIB3 tribbles pseudokinase 3
VAMP8 vesicle-associated membrane protein 8