abnormal bone remodeling Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant process of the continuous turnover of bone matrix and mineral that involves a balance of resorption and reactive bone formation by osteoclasts and osteoblasts, respectively (Mammalian Phenotype Ontology, MP_0002998)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002998
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Genes

138 gene mutations causing the abnormal bone remodeling phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACP5 acid phosphatase 5, tartrate resistant
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)
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
APOE apolipoprotein E
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
AXIN2 axin 2
BGLAP bone gamma-carboxyglutamate (gla) protein
CALCB calcitonin-related polypeptide beta
CAMK4 calcium/calmodulin-dependent protein kinase IV
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCR2 chemokine (C-C motif) receptor 2
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
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
CRTAP cartilage associated protein
CRY2 cryptochrome circadian clock 2
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTHRC1 collagen triple helix repeat containing 1
CTSK cathepsin K
CTSV cathepsin V
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCSTAMP dendrocyte expressed seven transmembrane protein
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ESR1 estrogen receptor 1
ESRRA estrogen-related receptor alpha
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FASLG Fas ligand (TNF superfamily, member 6)
FBLIM1 filamin binding LIM protein 1
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOSL2 FOS-like antigen 2
FRZB frizzled-related protein
FZD9 frizzled class receptor 9
GAB2 GRB2-associated binding protein 2
GALC galactosylceramidase
GC group-specific component (vitamin D binding protein)
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR55 G protein-coupled receptor 55
GPR65 G protein-coupled receptor 65
GPR68 G protein-coupled receptor 68
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
HCST hematopoietic cell signal transducer
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
IAPP islet amyloid polypeptide
IBSP integrin-binding sialoprotein
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
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)
JAK1 Janus kinase 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KITLG KIT ligand
KL klotho
LECT1 leukocyte cell derived chemotaxin 1
LIF leukemia inhibitory factor
LIMD1 LIM domains containing 1
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
MEPE matrix extracellular phosphoglycoprotein
MGP matrix Gla protein
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NBR1 neighbor of BRCA1 gene 1
NCOA1 nuclear receptor coactivator 1
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPR3 natriuretic peptide receptor 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OSTM1 osteopetrosis associated transmembrane protein 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PLEKHO1 pleckstrin homology domain containing, family O member 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTH1R parathyroid hormone 1 receptor
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
RAG1 recombination activating gene 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SOST sclerostin
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
SYK spleen tyrosine kinase
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TLR2 toll-like receptor 2
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
TYROBP TYRO protein tyrosine kinase binding protein
USP1 ubiquitin specific peptidase 1
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
WWOX WW domain containing oxidoreductase