| Name |
|---|
BMND9 GeneBone mineral density QTL 9 |
BMND6 GeneBone mineral density QTL 6 |
BMND5 GeneBone mineral density variation QTL 5 |
BMND10 GeneBone mineral density QTL 10 |
BMND11 GeneBone mineral density QTL 11 |
BMND13 GeneBone mineral density QTL 13 |
BMND14 GeneBone mineral density QTL 14 |
BMND4 GeneBone mineral density variation QTL 4 |
BMND8 Genebone mineral density quantiative trait locus 8 |
BMND2 GeneBone mineral density variation 2 |
BMND3 GeneBone mineral density variability 3 |
BMND7 Genebone mineral density quantiative trait locus 7 |
HDLCQ6 GeneHigh density lipoprotein cholesterol level QTL 6 |
HDLCQ1 Genehigh density lipoprotein cholesterol level QTL 1 |
HDLCQ4 GeneHigh density lipoprotein cholesterol level QTL 4 |
HDLCQ5 GeneHigh density lipoprotein cholesterol level QTL 5 |
HDLCQ2 GeneHigh density lipoprotein cholesterol level QTL on chromosome 8 |
BSZQTL GeneBone size QTL |
BSZQTL2 GeneBone size QTL |
LOC729557 Genedensity-regulated protein pseudogene |
LDLRAD1 Genelow density lipoprotein receptor class A domain containing 1 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LDLRAD2 Genelow density lipoprotein receptor class A domain containing 2 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LDLRAD3 Genelow density lipoprotein receptor class A domain containing 3 Predicted to enable amyloid-beta binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within regulation of protein processing. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP2 Genelow density lipoprotein receptor-related protein 2 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] |
LRP3 Genelow density lipoprotein receptor-related protein 3 Involved in negative regulation of fat cell differentiation; positive regulation of osteoblast differentiation; and regulation of gene expression. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP1 Genelow density lipoprotein receptor-related protein 1 This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015] |
LRP6 Genelow density lipoprotein receptor-related protein 6 This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009] |
LRP4 Genelow density lipoprotein receptor-related protein 4 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] |
LRP5 Genelow density lipoprotein receptor-related protein 5 This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
LRP8 Genelow density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] |
LOC100652897 Genedensity-regulated protein pseudogene |
LRPAP1 Genelow density lipoprotein receptor-related protein associated protein 1 This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
OLR1 Geneoxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] |
LDLR Genelow density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022] |
LRP5L Genelow density lipoprotein receptor-related protein 5-like |
HDLBP Genehigh density lipoprotein binding protein The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] |
LDLRAD4 Genelow density lipoprotein receptor class A domain containing 4 Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DENR Genedensity-regulated protein This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008] |
VLDLR Genevery low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] |
LOC100421006 Genevery low density lipoprotein receptor pseudogene |
LDLRAP1 Genelow density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] |
GPIHBP1 Geneglycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] |
LRP1B Genelow density lipoprotein receptor-related protein 1B This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] |
LRP10 Genelow density lipoprotein receptor-related protein 10 This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016] |
LRP11 Genelow density lipoprotein receptor-related protein 11 Enables phosphoprotein binding activity. Predicted to be involved in several processes, including response to cold; response to immobilization stress; and response to water deprivation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP12 Genelow density lipoprotein receptor-related protein 12 This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
LOC100420064 Genedensity-regulated protein pseudogene |
HDLC3 GeneHigh density lipoprotein cholesterol, low serum, 3 |
LOC100421281 Genehigh density lipoprotein binding protein pseudogene |
LOC100419923 Genedensity-regulated protein pseudogene |
ALPL Genealkaline phosphatase, liver/bone/kidney This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015] |
ANBC GeneAneurysmal bone cysts |
SHFLD3 GeneSplit-hand/foot malformation with long bone deficiency 3 |
BRKS1 GeneTelopeptide lysyl hydroxylase, bone-specific |
PDB6 GenePaget disease of bone 6 |
PDB4 GenePaget disease of bone 4 |
PDB5 GenePaget disease of bone 5 |
PDB1 GenePaget disease of bone 1 |
PRG2 Geneproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] |
BMP7 Genebone morphogenetic protein 7 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016] |
BMP6 Genebone morphogenetic protein 6 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016] |
BMP5 Genebone morphogenetic protein 5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016] |
BMP4 Genebone morphogenetic protein 4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016] |
BMP3 Genebone morphogenetic protein 3 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016] |
BMP2 Genebone morphogenetic protein 2 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016] |
BMP1 Genebone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] |
SHFL1 GeneSplit-hand/foot malformation with long bone deficiency 1 |
BRINP3 Genebone morphogenetic protein/retinoic acid inducible neural-specific 3 This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] |
BRINP2 Genebone morphogenetic protein/retinoic acid inducible neural-specific 2 Predicted to be involved in cellular response to retinoic acid; central nervous system neuron differentiation; and negative regulation of mitotic cell cycle. Predicted to act upstream of or within locomotion and nervous system development. Predicted to be located in extracellular region. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
BRINP1 Genebone morphogenetic protein/retinoic acid inducible neural-specific 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] |
BSZQTL3 GeneBone size quantitative trait locus 3 |
BMP8A Genebone morphogenetic protein 8a This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016] |
BMP8B Genebone morphogenetic protein 8b This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016] |
BGLAP Genebone gamma-carboxyglutamate (gla) protein This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015] |
BMPR1APS1 Genebone morphogenetic protein receptor, type IA pseudogene 1 |
BMPR1APS2 Genebone morphogenetic protein receptor, type IA pseudogene 2 |
BMPR2 Genebone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020] |
BST1 Genebone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] |
BST2 Genebone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] |
BMP10 Genebone morphogenetic protein 10 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016] |
BMP15 Genebone morphogenetic protein 15 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016] |
BMP6P1 Genebone morphogenetic protein 6 pseudogene 1 |
BMPR1A Genebone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] |
BMPR1B Genebone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
BMNCR Genebone marrow associated non-coding RNA |
AASTH40 GeneAllergic/atopic asthma related QTL 40 |
AASTH45 GeneAllergic/atopic asthma related QTL 45 |
BP49 GeneBlood pressure QTL 49 |
BMIQ6 Genebody mass index QTL 6 |
BMIQ5 Genebody mass index QTL 5 |
BMIQ2 Genebody mass index QTL 2 |
BMIQ3 Genebody mass index QTL 3 |
BMIQ1 Genebody mass index QTL 1 |
HRTRT1 GeneHeart rate QTL 1 |
CRCL GeneCreatinine clearance QTL |
BP24 GeneBlood pressure QTL 24 |
BP25 GeneBlood pressure QTL 25 |
BP26 GeneBlood pressure QTL 26 |
BP27 GeneBlood pressure QTL 27 |
BP20 GeneBlood pressure QTL 20 |
BP21 GeneBlood pressure QTL 21 |
BP22 GeneBlood pressure QTL 22 |
BP23 GeneBlood pressure QTL 23 |
BP28 GeneBlood pressure QTL 28 |
BP29 GeneBlood pressure QTL 29 |
BW1 GeneBody weight QTL 1 |
BW2 GeneBody weight QTL 2 |
BW3 GeneBody weight QTL 3 |
BW4 GeneBody weight QTL 4 |
BW6 GeneBody weight QTL 6 |
BW7 GeneBody weight QTL 7 |
BW8 GeneBody weight QTL 8 |
BW9 GeneBody weight QTL 9 |
COHEN1 GeneCohen syndrome QTL 1 |
FGQTL4 GeneFasting plasma glucose level QTL 4 |
FGQTL6 GeneFasting plasma glucose level QTL 6 |
FGQTL1 GeneFasting plasma glucose level QTL 1 |
RA26 GeneRheumatoid arthritis QTL 26 |
BW27 GeneBody weight QTL 27 |
BW26 GeneBody weight QTL 26 |
BW24 GeneBody weight QTL 24 |
BW23 GeneBody weight QTL 23 |
BW22 GeneBody weight QTL 22 |
BW20 GeneBody weight QTL 20 |
BW29 GeneBody weight QTL 29 |
BW28 GeneBody weight QTL 28 |
COPD14 GeneChronic obstructive pulmonary disease QTL 14 |
ADIPQTL2 GeneCirculating adiponectin QTL on chromosome 5 |
BMIQ15 GeneBody mass index QTL 15 |
RA6 GeneRheumatoid arthritis QTL 06 |
RA7 GeneRheumatoid arthritis QTL 07 |
RA4 GeneRheumatoid arthritis QTL 04 |
RA5 GeneRheumatoid arthritis QTL 01 |
RA2 GeneRheumatoid arthritis QTL 01 |
RA3 GeneRheumatoid arthritis QTL 02 |
RA1 GeneRheumatoid arthritis QTL 01 |
RA8 GeneRheumatoid arthritis QTL 08 |
AASTH18 GeneAllergic/atopic asthma related QTL 18 |
AASTH13 GeneAllergic/atopic asthma related QTL 13 |
AASTH15 GeneAllergic/atopic asthma related QTL 15 |
AASTH14 GeneAllergic/atopic asthma related QTL 14 |
AASTH16 GeneAllergic/atopic asthma related QTL 16 |
BFD1 GeneBody fluid distribution QTL 1 |
BFD3 GeneBody fluid distribution QTL 3 |
BFD4 GeneBody fluid distribution QTL 4 |
BFD5 GeneBody fluid distribution QTL 5 |
SLEP3 GeneSerum leptin concentration QTL 3 |
SLEP2 GeneSerum leptin concentration QTL 2 |
SLEP1 GeneSerum leptin concentration QTL 1 |
AASTH38 GeneAllergic/atopic asthma related QTL 38 |
AASTH37 GeneAllergic/atopic asthma related QTL 37 |
COPD3 GeneChronic obstructive pulmonary disease QTL 3 |
COPD2 GeneChronic obstructive pulmonary disease QTL 2 |
COPD1 GeneChronic obstructive pulmonary disease QTL 1 |
COPD6 GeneChronic obstructive pulmonary disease QTL 6 |
COPD5 GeneChronic obstructive pulmonary disease QTL 5 |
COPD4 GeneChronic obstructive pulmonary disease QTL 4 |
COPD8 GeneChronic obstructive pulmonary disease QTL 8 |
OA10 GeneOsteoarthritis QTL 10 |
CPROTQ GeneC-reactive protein QTL |
BP1 GeneBlood pressure QTL 1 |
BP3 GeneBlood pressure QTL 3 |
BP2 GeneBlood pressure QTL 2 |
BP5 GeneBlood pressure QTL 5 |
BP4 GeneBlood pressure QTL 4 |
BP7 GeneBlood pressure QTL 7 |
BP6 GeneBlood pressure QTL 6 |
BP9 GeneBlood pressure QTL 9 |
BP8 GeneBlood pressure QTL 8 |
OA30 GeneOsteoarthritis QTL 29 |
SLI2 GeneSpecific language impairment QTL, 2 |
SLI3 GeneSpecific language impairment QTL, 3 |
SLI1 GeneSpecific language impairment QTL, 1 |
BW56 GeneBody weight QTL 56 |
BW57 GeneBody weight QTL 57 |
BW54 GeneBody weight QTL 54 |
BW55 GeneBody weight QTL 55 |
BW52 GeneBody weight QTL 52 |
BW53 GeneBody weight QTL 53 |
BW58 GeneBody weight QTL 58 |
BW59 GeneBody weight QTL 59 |
ALPQTL2 GeneAlkaline phosphatase, plasma level of, QTL 2 |
AASTH48 GeneAllergic/atopic asthma related QTL 48 |
AASTH49 GeneAllergic/atopic asthma related QTL 49 |
RA24 GeneRheumatoid arthritis QTL 24 |
LBMQTL1 GeneLean body mass QTL 1 |
MENOQ1 Genemenopause, natural, age at, QTL |
CLQTL2 GeneCholesterol level QTL 2 |
TST2 GeneTuberculin skin test reactivity QTL |
RA21 GeneRheumatoid arthritis QTL 21 |
RA20 GeneRheumatoid arthritis QTL 20 |
RA23 GeneRheumatoid arthritis QTL 23 |
RA22 GeneRheumatoid arthritis QTL 22 |
RA25 GeneRheumatoid arthritis QTL 25 |
RA27 GeneRheumatoid arthritis QTL 27 |
RA29 GeneRheumatoid arthritis QTL 29 |
RA28 GeneRheumatoid arthritis QTL 28 |
AASTH42 GeneAllergic/atopic asthma related QTL 42 |
AASTH43 GeneAllergic/atopic asthma related QTL 43 |
AASTH47 GeneAllergic/atopic asthma related QTL 47 |
AASTH44 GeneAllergic/atopic asthma related QTL 44 |
BW15 GeneBody weight QTL 15 |
BW36 GeneBody weight QTL 36 |
BW37 GeneBody weight QTL 37 |
TSHQTL1 GeneThyroid-stimulating hormone level QTL 1 |
COHEN2 GeneCohen syndrome QTL 2 |
BW88 GeneBody weight QTL 88 |
OSTEAR3_H GeneOsteoarthritis QTL 3 |
COPD17 GeneChronic obstructive pulmonary disease QTL 17 |
AASTH9 GeneAllergic/atopic asthma related QTL 9 |
AASTH8 GeneAllergic/atopic asthma related QTL 8 |
AASTH7 GeneAllergic/atopic asthma related QTL 7 |
AASTH6 GeneAllergic/atopic asthma related QTL 6 |
AASTH1 GeneAllergic/atopic asthma related QTL 1 |
AASTH3 GeneAllergic/atopic asthma related QTL 3 |
AASTH2 GeneAllergic/atopic asthma related QTL 2 |
RA18 GeneRheumatoid arthritis QTL 18 |
RA19 GeneRheumatoid arthritis QTL 19 |
RA10 GeneRheumatoid arthritis QTL 10 |
RA11 GeneRheumatoid arthritis QTL 11 |
RA12 GeneRheumatoid arthritis QTL 12 |
RA13 GeneRheumatoid arthritis QTL 13 |
RA14 GeneRheumatoid arthritis QTL 14 |
RA15 GeneRheumatoid arthritis QTL 15 |
RA16 GeneRheumatoid arthritis QTL 16 |
RA17 GeneRheumatoid arthritis QTL 17 |
BP51 GeneBlood pressure QTL 51 |
BP50 GeneBlood pressure QTL 50 |
BP53 GeneBlood pressure QTL 53 |
BP52 GeneBlood pressure QTL 52 |
BP55 GeneBlood pressure QTL 55 |
BP54 GeneBlood pressure QTL 54 |
STQTL23 GeneStature QTL 23 |
STQTL20 GeneStature QTL 20 |
BW35 GeneBody weight QTL 35 |
BW30 GeneBody weight QTL 30 |
BW33 GeneBody weight QTL 33 |
COPD7 GeneChronic obstructive pulmonary disease QTL 7 |
COPD9 GeneChronic obstructive pulmonary disease QTL 9 |
AASTH29 GeneAllergic/Atopic asthma related QTL 29 |
AASTH24 GeneAllergic/atopic asthma related QTL 24 |
AASTH26 GeneAllergic/atopic asthma related QTL 25 |
AASTH27 GeneAllergic/atopic asthma related QTL 27 |
AASTH20 GeneAllergic/atopic asthma related QTL 20 |
AASTH21 GeneAllergic/atopic asthma related QTL 21 |
AASTH22 GeneAllergic/atopic asthma related QTL 22 |
BW5 GeneBody weight QTL 5 |
OA26 GeneOsteoarthritis QTL 26 |
OA25 GeneOsteoarthritis QTL 25 |
OA27 GeneOsteoarthritis QTL 27 |
OA24 GeneOsteoarthritis QTL 24 |
OA22 GeneOsteoarthritis QTL 22 |
OA23 GeneOsteoarthritis QTL 23 |
OA20 GeneOsteoarthritis QTL 20 |
OA21 GeneOsteoarthritis QTL 21 |
OA28 GeneOsteoarthritis QTL 28 |
OA29 GeneOsteoarthritis QTL 29 |
BW25 GeneBody weight QTL 25 |
AASTH41 GeneAllergic/Atopic asthma related QTL 41 |
AASTH46 GeneAllergic/atopic asthma related QTL 46 |
STQTL17 GeneStature QTL 17 |
UAE1 GeneUrinary albumin excretion QTL 1 |
UAE2 GeneUrinary albumin excretion QTL 2 |
STQTL15 GeneStature QTL 15 |
STQTL13 GeneStature QTL 13 |
AASTH25 GeneAllergic/atopic asthma related QTL 25 |
BW69 GeneBody weight QTL 69 |
BW68 GeneBody weight QTL 68 |
BW63 GeneBody weight QTL 63 |
BW62 GeneBody weight QTL 62 |
BW61 GeneBody weight QTL 61 |
BW60 GeneBody weight QTL 60 |
BW67 GeneBody weight QTL 67 |
BW66 GeneBody weight QTL 66 |
BW65 GeneBody weight QTL 65 |
BW64 GeneBody weight QTL 64 |
BW11 GeneBody weight QTL 11 |
ADIPQTL3 GeneCirculating adiponectin QTL on chromosome 14 |
AASTH55 GeneAllergic/atopic asthma related QTL 5 |
AASTH54 GeneAllergic/atopic asthma related QTL 54 |
AASTH56 GeneAllergic/Atopic asthma related QTL 56 |
AASTH51 GeneAllergic/atopic asthma related QTL 51 |
AASTH53 GeneAllergic/atopic asthma related QTL 53 |
AASTH52 GeneAllergic/atopic asthma related QTL 52 |
AASTH4 GeneAllergic/atopic asthma related QTL 4 |
RA9 GeneRheumatoid arthritis QTL 09 |
BFD2 GeneBody fluid distribution QTL 2 |
BP37 GeneBlood pressure QTL 37 |
BP36 GeneBlood pressure QTL 36 |
BP35 GeneBlood pressure QTL 35 |
BP34 GeneBlood pressure QTL 34 |
BP33 GeneBlood pressure QTL 33 |
BP32 GeneBlood pressure QTL 32 |
BP31 GeneBlood pressure QTL 31 |
BP30 GeneBlood pressure QTL 30 |
BP39 GeneBlood pressure QTL 39 |
BP38 GeneBlood pressure QTL 38 |
BP18 GeneBlood pressure QTL 18 |
BP14 GeneBlood pressure QTL 14 |
AASTH11 GeneAllergic/atopic asthma related QTL 11 |
AASTH12 GeneAllergic/atopic asthma related QTL 12 |
AASTH17 GeneAllergic/atopic asthma related QTL 17 |
RA30 GeneRheumatoid arthritis QTL 30 |
RA31 GeneRheumatoid arthritis QTL 31 |
HBFQTL4 GeneFetal hemoglobin QTL on chromosome 8 |
BW12 GeneBody weight QTL 12 |
BW13 GeneBody weight QTL 13 |
BW10 GeneBody weight QTL 10 |
BW16 GeneBody weight QTL 16 |
BW17 GeneBody weight QTL 17 |
BW14 GeneBody weight QTL 14 |
BW18 GeneBody weight QTL 18 |
BW19 GeneBody weight QTL 19 |
AASTH19 GeneAllergic/atopic asthma related QTL 19 |
AASTH10 GeneAllergic/atopic asthma related QTL 10 |
STQTL16 GeneStature QTL 16 |
STQTL14 GeneStature QTL 14 |
STQTL12 GeneStature QTL 12 |
STQTL10 GeneStature QTL 10 |
MUSQTL1 GeneMusical aptitude QTL 1 |
STQTL11 GeneStature QTL 11 |
STQTL18 GeneStature QTL 18 |
STQTL19 GeneStature QTL 19 |
BW34 GeneBody weight QTL 34 |
BW31 GeneBody weight QTL 31 |
BW32 GeneBody weight QTL 32 |
AASTH50 GeneAllergic/atopic asthma related QTL 50 |
BP46 GeneBlood pressure QTL 46 |
BP47 GeneBlood pressure QTL 47 |
BP45 GeneBlood pressure QTL 45 |
BP48 GeneBlood pressure QTL 48 |
BWQTL2 GeneBirth weight QTL 2 |
COPD13 GeneChronic obstructive pulmonary disease QTL 13 |
COPD12 GeneChronic obstructive pulmonary disease QTL 12 |
COPD11 GeneChronic obstructive pulmonary disease QTL 11 |
COPD10 GeneChronic obstructive pulmonary disease QTL 10 |
COPD16 GeneChronic obstructive pulmonary disease QTL 16 |
COPD15 GeneChronic obstructive pulmonary disease QTL 15 |
COPD19 GeneChronic obstructive pulmonary disease QTL 19 |
COPD18 GeneChronic obstructive pulmonary disease QTL 18 |
OA7 GeneOsteoarthritis QTL 7 |
OA6 GeneOsteoarthritis QTL 6 |
OA5 GeneOsteoarthritis QTL 5 |
OA4 GeneOsteoarthritis QTL 4 |
OA2 GeneOsteoarthritis QTL 2 |
OA1 GeneOsteoarthritis QTL 1 |
OA9 GeneOsteoarthritis QTL 9 |
OA8 GeneOsteoarthritis QTL 8 |
AASTH39 GeneAllergic/atopic asthma related QTL 39 |
AASTH36 GeneAllergic/atopic asthma related QTL 36 |
AASTH35 GeneAllergic/atopic asthma related QTL 35 |
AASTH34 GeneAllergic/atopic asthma related QTL 34 |
AASTH33 GeneAllergic/atopic asthma related QTL 33 |
AASTH32 GeneAllergic/Atopic asthma related QTL 32 |
AASTH31 GeneAllergic/atopic asthma related QTL 31 |
AASTH30 GeneAllergic/atopic asthma related QTL 30 |
AASTH5 GeneAllergic/atopic asthma related QTL 5 |
B6QTL1 GeneVitamin B6 plasma level QTL 1 |
STQTL24 GeneStature QTL 24 |
STQTL21 GeneStature QTL 21 |
MENAQ1 GeneMenarche, age at, QTL |
AASTH28 GeneAllergic/Atopic asthma related QTL 28 |
AASTH23 GeneAllergic/atopic asthma related QTL 23 |
STQTL22 GeneStature QTL 22 |
BP19 GeneBlood pressure QTL 19 |
BP15 GeneBlood pressure QTL 15 |
BP17 GeneBlood pressure QTL 17 |
BP16 GeneBlood pressure QTL 16 |
BP11 GeneBlood pressure QTL 11 |
BP10 GeneBlood pressure QTL 10 |
BP13 GeneBlood pressure QTL 13 |
BP12 GeneBlood pressure QTL 12 |
OA19 GeneOsteoarthritis QTL 19 |
OA18 GeneOsteoarthritis QTL 18 |
OA13 GeneOsteoarthritis QTL 13 |
OA12 GeneOsteoarthritis QTL 12 |
OA11 GeneOsteoarthritis QTL 11 |
OA17 GeneOsteoarthritis QTL 17 |
OA16 GeneOsteoarthritis QTL 16 |
OA15 GeneOsteoarthritis QTL 15 |
OA14 GeneOsteoarthritis QTL 14 |
COPD28 GeneChronic obstructive pulmonary disease QTL 28 |
COPD29 GeneChronic obstructive pulmonary disease QTL 29 |
COPD22 GeneChronic obstructive pulmonary disease QTL 22 |
COPD23 GeneChronic obstructive pulmonary disease QTL 23 |
COPD20 GeneChronic obstructive pulmonary disease QTL 20 |
COPD21 GeneChronic obstructive pulmonary disease QTL 21 |
COPD26 GeneChronic obstructive pulmonary disease QTL 26 |
COPD27 GeneChronic obstructive pulmonary disease QTL 27 |
COPD24 GeneChronic obstructive pulmonary disease QTL 24 |
COPD25 GeneChronic obstructive pulmonary disease QTL 25 |
BW70 GeneBody weight QTL 70 |
BW71 GeneBody weight QTL 71 |
BW72 GeneBody weight QTL 72 |
SXGQTL1 GeneSex hormone-binding blobulin circulating level QTL 1 |