abnormal macrophage physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells (Mammalian Phenotype Ontology, MP_0002451)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002451
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Genes

321 gene mutations causing the abnormal macrophage physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACP5 acid phosphatase 5, tartrate resistant
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRE1 adhesion G protein-coupled receptor E1
ADORA2B adenosine A2b receptor
ADRB2 adrenoceptor beta 2, surface
AHR aryl hydrocarbon receptor
AIM2 absent in melanoma 2
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ANGPTL2 angiopoietin-like 2
ANPEP alanyl (membrane) aminopeptidase
ANXA1 annexin A1
APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3
ARG1 arginase 1
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
ATM ATM serine/threonine kinase
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG4 BCL2-associated athanogene 4
BCL3 B-cell CLL/lymphoma 3
BIRC3 baculoviral IAP repeat containing 3
BTK Bruton agammaglobulinemia tyrosine kinase
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CAPG capping protein (actin filament), gelsolin-like
CARD9 caspase recruitment domain family, member 9
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP4 caspase 4, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CCL13 chemokine (C-C motif) ligand 13
CCL3L3 chemokine (C-C motif) ligand 3-like 3
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR6 chemokine (C-C motif) receptor 6
CD14 CD14 molecule
CD200 CD200 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD44 CD44 molecule (Indian blood group)
CD68 CD68 molecule
CD81 CD81 molecule
CD93 CD93 molecule
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CIITA class II, major histocompatibility complex, transactivator
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLEC4E C-type lectin domain family 4, member E
CLEC4F C-type lectin domain family 4, member F
CLEC6A C-type lectin domain family 6, member A
CLEC7A C-type lectin domain family 7, member A
CLIC4 chloride intracellular channel 4
CMKLR1 chemerin chemokine-like receptor 1
CNN2 calponin 2
CNPY3 canopy FGF signaling regulator 3
CNR2 cannabinoid receptor 2 (macrophage)
COL1A1 collagen, type I, alpha 1
CORO1A coronin, actin binding protein, 1A
CRY2 cryptochrome circadian clock 2
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSPG4 chondroitin sulfate proteoglycan 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CTSV cathepsin V
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCR3 chemokine (C-X-C motif) receptor 3
CYBB cytochrome b-245, beta polypeptide
DCSTAMP dendrocyte expressed seven transmembrane protein
DDIT3 DNA-damage-inducible transcript 3
DOCK3 dedicator of cytokinesis 3
DUSP2 dual specificity phosphatase 2
DUSP4 dual specificity phosphatase 4
EGR1 early growth response 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ERO1L ERO1-like (S. cerevisiae)
ESR1 estrogen receptor 1
F3 coagulation factor III (thromboplastin, tissue factor)
FADS2 fatty acid desaturase 2
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBLIM1 filamin binding LIM protein 1
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FES FES proto-oncogene, tyrosine kinase
FGFR3 fibroblast growth factor receptor 3
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
FPR2 formyl peptide receptor 2
FYN FYN proto-oncogene, Src family tyrosine kinase
GALC galactosylceramidase
GBP3 guanylate binding protein 3
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR132 G protein-coupled receptor 132
GPR55 G protein-coupled receptor 55
GPR65 G protein-coupled receptor 65
GPR68 G protein-coupled receptor 68
GRN granulin
GSN gelsolin
HCK HCK proto-oncogene, Src family tyrosine kinase
HCST hematopoietic cell signal transducer
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-G major histocompatibility complex, class I, G
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HPS1 Hermansky-Pudlak syndrome 1
HSPB1 heat shock 27kDa protein 1
HVCN1 hydrogen voltage gated channel 1
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IL12B interleukin 12B
IL13 interleukin 13
IL13RA2 interleukin 13 receptor, alpha 2
IL18 interleukin 18
IL1B interleukin 1, beta
IL23A interleukin 23, alpha subunit p19
IL31RA interleukin 31 receptor A
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK2 interleukin-1 receptor-associated kinase 2
IRAK3 interleukin-1 receptor-associated kinase 3
IRAK4 interleukin-1 receptor-associated kinase 4
IRF1 interferon regulatory factor 1
IRS1 insulin receptor substrate 1
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGAD integrin, alpha D
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JMJD6 jumonji domain containing 6
LCP1 lymphocyte cytosolic protein 1 (L-plastin)
LECT1 leukocyte cell derived chemotaxin 1
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LGMN legumain
LIF leukemia inhibitory factor
LIMD1 LIM domains containing 1
LITAF lipopolysaccharide-induced TNF factor
LRRK1 leucine-rich repeat kinase 1
LTA lymphotoxin alpha
LTB4R leukotriene B4 receptor
LY96 lymphocyte antigen 96
LYN LYN proto-oncogene, Src family tyrosine kinase
MAN2C1 mannosidase, alpha, class 2C, member 1
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MARCKSL1 MARCKS-like 1
MARCO macrophage receptor with collagenous structure
MAVS mitochondrial antiviral signaling protein
MB21D1 Mab-21 domain containing 1
MCAM melanoma cell adhesion molecule
MCOLN1 mucolipin 1
MDK midkine (neurite growth-promoting factor 2)
MEFV Mediterranean fever
MEPE matrix extracellular phosphoglycoprotein
MFGE8 milk fat globule-EGF factor 8 protein
MITF microphthalmia-associated transcription factor
MLKL mixed lineage kinase domain-like
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP28 matrix metallopeptidase 28
MMP7 matrix metallopeptidase 7
MPZ myelin protein zero
MRC1 mannose receptor, C type 1
MSR1 macrophage scavenger receptor 1
MST1 macrophage stimulating 1
MST1R macrophage stimulating 1 receptor
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYD88 myeloid differentiation primary response 88
MYO9B myosin IXB
NBR1 neighbor of BRCA1 gene 1
NCEH1 neutral cholesterol ester hydrolase 1
NCF1 neutrophil cytosolic factor 1
NCKAP1L NCK-associated protein 1-like
NEIL3 nei endonuclease VIII-like 3 (E. coli)
NFE2L2 nuclear factor, erythroid 2-like 2
NFIL3 nuclear factor, interleukin 3 regulated
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NINJ1 ninjurin 1
NLRC4 NLR family, CARD domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NLRX1 NLR family member X1
NOD1 nucleotide-binding oligomerization domain containing 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPC1 Niemann-Pick disease, type C1
NPY1R neuropeptide Y receptor Y1
NUP98 nucleoporin 98kDa
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6
PARP1 poly (ADP-ribose) polymerase 1
PCTP phosphatidylcholine transfer protein
PELI3 pellino E3 ubiquitin protein ligase family member 3
PGAP3 post-GPI attachment to proteins 3
PGLYRP2 peptidoglycan recognition protein 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA2G15 phospholipase A2, group XV
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLA2G5 phospholipase A2, group V
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLEC plectin
PLG plasminogen
PON2 paraoxonase 2
PPT1 palmitoyl-protein thioesterase 1
PRF1 perforin 1 (pore forming protein)
PRKCE protein kinase C, epsilon
PSAP prosaposin
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES prostaglandin E synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTN pleiotrophin
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
PTX3 pentraxin 3, long
PYCARD PYD and CARD domain containing
RAG2 recombination activating gene 2
RAP1A RAP1A, member of RAS oncogene family
RASA4 RAS p21 protein activator 4
RC3H2 ring finger and CCCH-type domains 2
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RIPK2 receptor-interacting serine-threonine kinase 2
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RORA RAR-related orphan receptor A
S100A4 S100 calcium binding protein A4
SARM1 sterile alpha and TIR motif containing 1
SBNO2 strawberry notch homolog 2 (Drosophila)
SCARF1 scavenger receptor class F, member 1
SELK selenoprotein K
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERTAD2 SERTA domain containing 2
SFTPD surfactant protein D
SGMS2 sphingomyelin synthase 2
SH3BP2 SH3-domain binding protein 2
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIGLEC9 sialic acid binding Ig-like lectin 9
SIRPA signal-regulatory protein alpha
SLAMF1 signaling lymphocytic activation molecule family member 1
SLAMF8 SLAM family member 8
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SLPI secretory leukocyte peptidase inhibitor
SOCS1 suppressor of cytokine signaling 1
SOCS2 suppressor of cytokine signaling 2
SPIC Spi-C transcription factor (Spi-1/PU.1 related)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SUCO SUN domain containing ossification factor
TANK TRAF family member-associated NFKB activator
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBK1 TANK-binding kinase 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB2 transforming growth factor, beta 2
TGM2 transglutaminase 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TICAM1 toll-like receptor adaptor molecule 1
TIMD4 T-cell immunoglobulin and mucin domain containing 4
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR1 toll-like receptor 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR6 toll-like receptor 6
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TMEM173 transmembrane protein 173
TNF tumor necrosis factor
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNIP2 TNFAIP3 interacting protein 2
TOB2 transducer of ERBB2, 2
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TRPV2 transient receptor potential cation channel, subfamily V, member 2
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBE2N ubiquitin-conjugating enzyme E2N
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
WWOX WW domain containing oxidoreductase
ZFP36 ZFP36 ring finger protein