abnormal osteoclast morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue (Mammalian Phenotype Ontology, MP_0004982)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004982
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Genes

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

Symbol Name
ADAM8 ADAM metallopeptidase domain 8
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
BGLAP bone gamma-carboxyglutamate (gla) protein
C3 complement component 3
C3AR1 complement component 3a receptor 1
C5AR1 complement component 5a receptor 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CARTPT CART prepropeptide
CAV1 caveolin 1, caveolae protein, 22kDa
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD68 CD68 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
COL10A1 collagen, type X, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTSK cathepsin K
CTSV cathepsin V
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
EBF1 early B-cell factor 1
EGR1 early growth response 1
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
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
GAB2 GRB2-associated binding protein 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GGT1 gamma-glutamyltransferase 1
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
GSN gelsolin
HCST hematopoietic cell signal transducer
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HSPG2 heparan sulfate proteoglycan 2
IAPP islet amyloid polypeptide
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IL17RB interleukin 17 receptor B
IL20RA interleukin 20 receptor, alpha
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JDP2 Jun dimerization protein 2
KITLG KIT ligand
KL klotho
LEP leptin
LEPR leptin receptor
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LIMD1 LIM domains containing 1
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MC4R melanocortin 4 receptor
MITF microphthalmia-associated transcription factor
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
NCOR2 nuclear receptor corepressor 2
NFE2 nuclear factor, erythroid 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)
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOV nephroblastoma overexpressed
NPR3 natriuretic peptide receptor 3
NPY2R neuropeptide Y receptor Y2
OSCAR osteoclast associated, immunoglobulin-like receptor
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEX7 peroxisomal biogenesis factor 7
PGR progesterone receptor
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
POSTN periostin, osteoblast specific factor
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
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RGS10 regulator of G-protein signaling 10
RUNX2 runt-related transcription factor 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SGPL1 sphingosine-1-phosphate lyase 1
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
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
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TMEM64 transmembrane protein 64
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOB2 transducer of ERBB2, 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TYROBP TYRO protein tyrosine kinase binding protein
VCP valosin containing protein
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
XYLT1 xylosyltransferase I