abnormal osteoclast differentiation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue (Mammalian Phenotype Ontology, MP_0008396)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008396
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Genes

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

Symbol Name
ADAM8 ADAM metallopeptidase domain 8
ADRB2 adrenoceptor beta 2, surface
ANKH ANKH inorganic pyrophosphate transport regulator
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
CAMK4 calcium/calmodulin-dependent protein kinase IV
CCR2 chemokine (C-C motif) receptor 2
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
DCSTAMP dendrocyte expressed seven transmembrane protein
DKK2 dickkopf WNT signaling pathway inhibitor 2
ESRRA estrogen-related receptor alpha
FBLIM1 filamin binding LIM protein 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
GAB2 GRB2-associated binding protein 2
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
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IGF2 insulin-like growth factor 2
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
IRS1 insulin receptor substrate 1
JDP2 Jun dimerization protein 2
LEP leptin
LEPR leptin receptor
LIF leukemia inhibitory factor
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
OSCAR osteoclast associated, immunoglobulin-like receptor
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
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)
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
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SQSTM1 sequestosome 1
STAT1 signal transducer and activator of transcription 1, 91kDa
SYK spleen tyrosine kinase
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
TOB2 transducer of ERBB2, 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TYROBP TYRO protein tyrosine kinase binding protein
VCP valosin containing protein
WAS Wiskott-Aldrich syndrome
XYLT1 xylosyltransferase I