abnormal macrophage morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural 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_0002446)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002446
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABHD12 abhydrolase domain containing 12
ACP2 acid phosphatase 2, lysosomal
ADAM8 ADAM metallopeptidase domain 8
ADGRE1 adhesion G protein-coupled receptor E1
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AIRE autoimmune regulator
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
APC adenomatous polyposis coli
ARHGAP15 Rho GTPase activating protein 15
ARSA arylsulfatase A
ARSG arylsulfatase G
ASL argininosuccinate lyase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
BCL3 B-cell CLL/lymphoma 3
BGLAP bone gamma-carboxyglutamate (gla) protein
BHLHE41 basic helix-loop-helix family, member e41
BIRC3 baculoviral IAP repeat containing 3
C3 complement component 3
C3AR1 complement component 3a receptor 1
C4A complement component 4A (Rodgers blood group)
C5AR1 complement component 5a receptor 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CARTPT CART prepropeptide
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CCL13 chemokine (C-C motif) ligand 13
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CCR4 chemokine (C-C motif) receptor 4
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR6 chemokine (C-C motif) receptor 6
CD200 CD200 molecule
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD68 CD68 molecule
CD81 CD81 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CERS6 ceramide synthase 6
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CMKLR1 chemerin chemokine-like receptor 1
CNN2 calponin 2
CNOT3 CCR4-NOT transcription complex, subunit 3
CNTF ciliary neurotrophic factor
COL10A1 collagen, type X, alpha 1
CP ceruloplasmin (ferroxidase)
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTBS chitobiase, di-N-acetyl-
CTSD cathepsin D
CTSK cathepsin K
CTSV cathepsin V
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL14 chemokine (C-X-C motif) ligand 14
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DCSTAMP dendrocyte expressed seven transmembrane protein
DKK2 dickkopf WNT signaling pathway inhibitor 2
DOK3 docking protein 3
DRD2 dopamine receptor D2
EBF1 early B-cell factor 1
EGR1 early growth response 1
EN1 engrailed homeobox 1
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESR1 estrogen receptor 1
ESRRA estrogen-related receptor alpha
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FBLIM1 filamin binding LIM protein 1
FGFR3 fibroblast growth factor receptor 3
FLT3LG fms-related tyrosine kinase 3 ligand
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
FOXP3 forkhead box P3
GAB2 GRB2-associated binding protein 2
GALC galactosylceramidase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GGT1 gamma-glutamyltransferase 1
GJC2 gap junction protein, gamma 2, 47kDa
GJD4 gap junction protein, delta 4, 40.1kDa
GLMP glycosylated lysosomal membrane protein
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPR55 G protein-coupled receptor 55
GPR68 G protein-coupled receptor 68
GRN granulin
GSN gelsolin
HCK HCK proto-oncogene, Src family tyrosine kinase
HCST hematopoietic cell signal transducer
HFE2 hemochromatosis type 2 (juvenile)
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HOXA5 homeobox A5
HOXB8 homeobox B8
HR hair growth associated
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IAPP islet amyloid polypeptide
ICAM1 intercellular adhesion molecule 1
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IDUA iduronidase, alpha-L-
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL13 interleukin 13
IL17RB interleukin 17 receptor B
IL18 interleukin 18
IL1RL2 interleukin 1 receptor-like 2
IL20RA interleukin 20 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL34 interleukin 34
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INS insulin
IRAK3 interleukin-1 receptor-associated kinase 3
IRF8 interferon regulatory factor 8
IRS1 insulin receptor substrate 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JDP2 Jun dimerization protein 2
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KITLG KIT ligand
KL klotho
KLF15 Kruppel-like factor 15
KMT2E lysine (K)-specific methyltransferase 2E
LCN2 lipocalin 2
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LIMD1 LIM domains containing 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LITAF lipopolysaccharide-induced TNF factor
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
LRRK2 leucine-rich repeat kinase 2
LSP1 lymphocyte-specific protein 1
LYN LYN proto-oncogene, Src family tyrosine kinase
LYST lysosomal trafficking regulator
LYZ lysozyme
MAEA macrophage erythroblast attacher
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MC4R melanocortin 4 receptor
MDK midkine (neurite growth-promoting factor 2)
MEFV Mediterranean fever
MFAP2 microfibrillar-associated protein 2
MFSD8 major facilitator superfamily domain containing 8
MINA MYC induced nuclear antigen
MIR122 microRNA 122
MITF microphthalmia-associated transcription factor
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPZ myelin protein zero
MSI2 musashi RNA-binding protein 2
MSX2 msh homeobox 2
MX1 MX dynamin-like GTPase 1
NAGLU N-acetylglucosaminidase, alpha
NCOR2 nuclear receptor corepressor 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEU1 sialidase 1 (lysosomal sialidase)
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NGFR nerve growth factor receptor
NKX2-3 NK2 homeobox 3
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOV nephroblastoma overexpressed
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPR3 natriuretic peptide receptor 3
NPY2R neuropeptide Y receptor Y2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NXNL1 nucleoredoxin-like 1
OGG1 8-oxoguanine DNA glycosylase
OSCAR osteoclast associated, immunoglobulin-like receptor
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PCSK1 proprotein convertase subtilisin/kexin type 1
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEX7 peroxisomal biogenesis factor 7
PGR progesterone receptor
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA2G15 phospholipase A2, group XV
PLAT plasminogen activator, tissue
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLP1 proteolipid protein 1
POSTN periostin, osteoblast specific factor
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROX1 prospero homeobox 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTN pleiotrophin
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
RAD50 RAD50 homolog (S. cerevisiae)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RARRES2 retinoic acid receptor responder (tazarotene induced) 2
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RB1 retinoblastoma 1
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)
RGS10 regulator of G-protein signaling 10
RHO rhodopsin
RUNX2 runt-related transcription factor 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SCTR secretin receptor
SCYL1 SCY1-like 1 (S. cerevisiae)
SFTPD surfactant protein D
SGMS2 sphingomyelin synthase 2
SGPL1 sphingosine-1-phosphate lyase 1
SH3BP2 SH3-domain binding protein 2
SHCBP1 SHC SH2-domain binding protein 1
SIGLEC15 sialic acid binding Ig-like lectin 15
SIRT7 sirtuin 7
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOAT1 sterol O-acyltransferase 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPI1 Spi-1 proto-oncogene
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
STEAP4 STEAP family member 4
SUCO SUN domain containing ossification factor
SUMF1 sulfatase modifying factor 1
SYK spleen tyrosine kinase
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGM2 transglutaminase 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TMEM64 transmembrane protein 64
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOB2 transducer of ERBB2, 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIB1 tribbles pseudokinase 1
TRIB2 tribbles pseudokinase 2
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TSPAN2 tetraspanin 2
TYROBP TYRO protein tyrosine kinase binding protein
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
USP21 ubiquitin specific peptidase 21
VCP valosin containing protein
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
XYLT1 xylosyltransferase I
ZDHHC13 zinc finger, DHHC-type containing 13