abnormal granulocyte physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of neutrophils, eosinophils, or basophils (Mammalian Phenotype Ontology, MP_0002462)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002462
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Genes

211 gene mutations causing the abnormal granulocyte 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
ALOX5 arachidonate 5-lipoxygenase
ALOX5AP arachidonate 5-lipoxygenase-activating protein
ARHGAP15 Rho GTPase activating protein 15
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1
ASXL1 additional sex combs like transcriptional regulator 1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL2A1 BCL2-related protein A1
BCR breakpoint cluster region
BTK Bruton agammaglobulinemia tyrosine kinase
C3 complement component 3
C3AR1 complement component 3a receptor 1
C5AR1 complement component 5a receptor 1
CAPG capping protein (actin filament), gelsolin-like
CAV1 caveolin 1, caveolae protein, 22kDa
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase
CCL11 chemokine (C-C motif) ligand 11
CCL13 chemokine (C-C motif) ligand 13
CCR1 chemokine (C-C motif) receptor 1
CCR3 chemokine (C-C motif) receptor 3
CCR6 chemokine (C-C motif) receptor 6
CD14 CD14 molecule
CD300A CD300a molecule
CD300LF CD300 molecule-like family member f
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD69 CD69 molecule
CDH5 cadherin 5, type 2 (vascular endothelium)
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLCN3 chloride channel, voltage-sensitive 3
CLEC6A C-type lectin domain family 6, member A
CLEC7A C-type lectin domain family 7, member A
CLNK cytokine-dependent hematopoietic cell linker
CMA1 chymase 1, mast cell
CMKLR1 chemerin chemokine-like receptor 1
CORO1A coronin, actin binding protein, 1A
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTSC cathepsin C
CTTN cortactin
CXCL6 chemokine (C-X-C motif) ligand 6
CXCR2 chemokine (C-X-C motif) receptor 2
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DOCK2 dedicator of cytokinesis 2
DOK2 docking protein 2, 56kDa
DUSP1 dual specificity phosphatase 1
DUSP2 dual specificity phosphatase 2
EDIL3 EGF-like repeats and discoidin I-like domains 3
ELANE elastase, neutrophil expressed
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
FASTK Fas-activated serine/threonine kinase
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCMR Fc fragment of IgM receptor
FFAR2 free fatty acid receptor 2
FGG fibrinogen gamma chain
FLOT1 flotillin 1
FPR1 formyl peptide receptor 1
FPR2 formyl peptide receptor 2
FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase)
FYN FYN proto-oncogene, Src family tyrosine kinase
G6PC3 glucose 6 phosphatase, catalytic, 3
GAB2 GRB2-associated binding protein 2
GBP5 guanylate binding protein 5
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GJA1 gap junction protein, alpha 1, 43kDa
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GSN gelsolin
HCK HCK proto-oncogene, Src family tyrosine kinase
HRH4 histamine receptor H4
HSPB1 heat shock 27kDa protein 1
HVCN1 hydrogen voltage gated channel 1
ICAM1 intercellular adhesion molecule 1
ICAM2 intercellular adhesion molecule 2
IL12B interleukin 12B
IL13 interleukin 13
IL17RA interleukin 17 receptor A
IL18 interleukin 18
IL1R1 interleukin 1 receptor, type I
IL1RL1 interleukin 1 receptor-like 1
IL21R interleukin 21 receptor
IL23A interleukin 23, alpha subunit p19
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JDP2 Jun dimerization protein 2
KDM6B lysine (K)-specific demethylase 6B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2E lysine (K)-specific methyltransferase 2E
LAT2 linker for activation of T cells family, member 2
LBP lipopolysaccharide binding protein
LCN2 lipocalin 2
LCP1 lymphocyte cytosolic protein 1 (L-plastin)
LGALS3 lectin, galactoside-binding, soluble, 3
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LSP1 lymphocyte-specific protein 1
LTB4R leukotriene B4 receptor
LTB4R2 leukotriene B4 receptor 2
LY96 lymphocyte antigen 96
MDK midkine (neurite growth-promoting factor 2)
MILR1 mast cell immunoglobulin-like receptor 1
MIR142 microRNA 142
MIR223 microRNA 223
MITF microphthalmia-associated transcription factor
MMP24 matrix metallopeptidase 24 (membrane-inserted)
MMP28 matrix metallopeptidase 28
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MPP1 membrane protein, palmitoylated 1, 55kDa
MS4A2 membrane-spanning 4-domains, subfamily A, member 2
MYD88 myeloid differentiation primary response 88
MYO1F myosin IF
NCF1 neutrophil cytosolic factor 1
NCF4 neutrophil cytosolic factor 4, 40kDa
NCKAP1L NCK-associated protein 1-like
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
NF1 neurofibromin 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NLRP12 NLR family, pyrin domain containing 12
NLRX1 NLR family member X1
NOD2 nucleotide-binding oligomerization domain containing 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR1 natriuretic peptide receptor 1
ORAI1 ORAI calcium release-activated calcium modulator 1
OTUD7B OTU deubiquitinase 7B
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PADI2 peptidyl arginine deiminase, type II
PADI4 peptidyl arginine deiminase, type IV
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PDE4B phosphodiesterase 4B, cAMP-specific
PDE4D phosphodiesterase 4D, cAMP-specific
PGLYRP1 peptidoglycan recognition protein 1
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PILRA paired immunoglobin-like type 2 receptor alpha
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta
PLA2G10 phospholipase A2, group X
PLA2G3 phospholipase A2, group III
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAC8 placenta-specific 8
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLD2 phospholipase D2
PRAM1 PML-RARA regulated adaptor molecule 1
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRKCD protein kinase C, delta
PTGDR prostaglandin D2 receptor (DP)
PTGDR2 prostaglandin D2 receptor 2
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTN pleiotrophin
PTPRC protein tyrosine phosphatase, receptor type, C
RAB27A RAB27A, member RAS oncogene family
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAP1A RAP1A, member of RAS oncogene family
RASGRP4 RAS guanyl releasing protein 4
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGS13 regulator of G-protein signaling 13
RHOH ras homolog family member H
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
S100A4 S100 calcium binding protein A4
S100A9 S100 calcium binding protein A9
SAC3D1 SAC3 domain containing 1
SELE selectin E
SELK selenoprotein K
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SFTPD surfactant protein D
SIGLEC8 sialic acid binding Ig-like lectin 8
SIGLEC9 sialic acid binding Ig-like lectin 9
SLAMF6 SLAM family member 6
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD3 SMAD family member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPRED1 sprouty-related, EVH1 domain containing 1
SSTR4 somatostatin receptor 4
ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STIM1 stromal interaction molecule 1
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
SYK spleen tyrosine kinase
TACR1 tachykinin receptor 1
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TICAM1 toll-like receptor adaptor molecule 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TPSAB1 tryptase alpha/beta 1
TRAF3IP2 TRAF3 interacting protein 2
TRIB3 tribbles pseudokinase 3
TRPM2 transient receptor potential cation channel, subfamily M, member 2
VAMP8 vesicle-associated membrane protein 8
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1