Name

BMND9 Gene

Bone mineral density QTL 9

BMND6 Gene

Bone mineral density QTL 6

BMND5 Gene

Bone mineral density variation QTL 5

BMND10 Gene

Bone mineral density QTL 10

BMND11 Gene

Bone mineral density QTL 11

BMND13 Gene

Bone mineral density QTL 13

BMND14 Gene

Bone mineral density QTL 14

BMND4 Gene

Bone mineral density variation QTL 4

BMND8 Gene

bone mineral density quantiative trait locus 8

BMND2 Gene

Bone mineral density variation 2

BMND3 Gene

Bone mineral density variability 3

BMND7 Gene

bone mineral density quantiative trait locus 7

HDLCQ6 Gene

High density lipoprotein cholesterol level QTL 6

HDLCQ1 Gene

high density lipoprotein cholesterol level QTL 1

HDLCQ4 Gene

High density lipoprotein cholesterol level QTL 4

HDLCQ5 Gene

High density lipoprotein cholesterol level QTL 5

HDLCQ2 Gene

High density lipoprotein cholesterol level QTL on chromosome 8

BSZQTL Gene

Bone size QTL

BSZQTL2 Gene

Bone size QTL

LOC729557 Gene

density-regulated protein pseudogene

LDLRAD1 Gene

low density lipoprotein receptor class A domain containing 1

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LDLRAD2 Gene

low density lipoprotein receptor class A domain containing 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LDLRAD3 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

density-regulated protein pseudogene

LRPAP1 Gene

low 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 Gene

oxidized 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 Gene

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. 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 Gene

low density lipoprotein receptor-related protein 5-like

HDLBP Gene

high 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 Gene

low 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 Gene

density-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 Gene

very 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 Gene

very low density lipoprotein receptor pseudogene

LDLRAP1 Gene

low 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 Gene

glycosylphosphatidylinositol 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

low 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 Gene

density-regulated protein pseudogene

HDLC3 Gene

High density lipoprotein cholesterol, low serum, 3

LOC100421281 Gene

high density lipoprotein binding protein pseudogene

LOC100419923 Gene

density-regulated protein pseudogene

ALPL Gene

alkaline 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 Gene

Aneurysmal bone cysts

SHFLD3 Gene

Split-hand/foot malformation with long bone deficiency 3

BRKS1 Gene

Telopeptide lysyl hydroxylase, bone-specific

PDB6 Gene

Paget disease of bone 6

PDB4 Gene

Paget disease of bone 4

PDB5 Gene

Paget disease of bone 5

PDB1 Gene

Paget disease of bone 1

PRG2 Gene

proteoglycan 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

Split-hand/foot malformation with long bone deficiency 1

BRINP3 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

Bone size quantitative trait locus 3

BMP8A Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone morphogenetic protein receptor, type IA pseudogene 1

BMPR1APS2 Gene

bone morphogenetic protein receptor, type IA pseudogene 2

BMPR2 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone 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 Gene

bone morphogenetic protein 6 pseudogene 1

BMPR1A Gene

bone 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 Gene

bone 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 Gene

bone marrow associated non-coding RNA

AASTH40 Gene

Allergic/atopic asthma related QTL 40

AASTH45 Gene

Allergic/atopic asthma related QTL 45

BP49 Gene

Blood pressure QTL 49

BMIQ6 Gene

body mass index QTL 6

BMIQ5 Gene

body mass index QTL 5

BMIQ2 Gene

body mass index QTL 2

BMIQ3 Gene

body mass index QTL 3

BMIQ1 Gene

body mass index QTL 1

HRTRT1 Gene

Heart rate QTL 1

CRCL Gene

Creatinine clearance QTL

BP24 Gene

Blood pressure QTL 24

BP25 Gene

Blood pressure QTL 25

BP26 Gene

Blood pressure QTL 26

BP27 Gene

Blood pressure QTL 27

BP20 Gene

Blood pressure QTL 20

BP21 Gene

Blood pressure QTL 21

BP22 Gene

Blood pressure QTL 22

BP23 Gene

Blood pressure QTL 23

BP28 Gene

Blood pressure QTL 28

BP29 Gene

Blood pressure QTL 29

BW1 Gene

Body weight QTL 1

BW2 Gene

Body weight QTL 2

BW3 Gene

Body weight QTL 3

BW4 Gene

Body weight QTL 4

BW6 Gene

Body weight QTL 6

BW7 Gene

Body weight QTL 7

BW8 Gene

Body weight QTL 8

BW9 Gene

Body weight QTL 9

COHEN1 Gene

Cohen syndrome QTL 1

FGQTL4 Gene

Fasting plasma glucose level QTL 4

FGQTL6 Gene

Fasting plasma glucose level QTL 6

FGQTL1 Gene

Fasting plasma glucose level QTL 1

RA26 Gene

Rheumatoid arthritis QTL 26

BW27 Gene

Body weight QTL 27

BW26 Gene

Body weight QTL 26

BW24 Gene

Body weight QTL 24

BW23 Gene

Body weight QTL 23

BW22 Gene

Body weight QTL 22

BW20 Gene

Body weight QTL 20

BW29 Gene

Body weight QTL 29

BW28 Gene

Body weight QTL 28

COPD14 Gene

Chronic obstructive pulmonary disease QTL 14

ADIPQTL2 Gene

Circulating adiponectin QTL on chromosome 5

BMIQ15 Gene

Body mass index QTL 15

RA6 Gene

Rheumatoid arthritis QTL 06

RA7 Gene

Rheumatoid arthritis QTL 07

RA4 Gene

Rheumatoid arthritis QTL 04

RA5 Gene

Rheumatoid arthritis QTL 01

RA2 Gene

Rheumatoid arthritis QTL 01

RA3 Gene

Rheumatoid arthritis QTL 02

RA1 Gene

Rheumatoid arthritis QTL 01

RA8 Gene

Rheumatoid arthritis QTL 08

AASTH18 Gene

Allergic/atopic asthma related QTL 18

AASTH13 Gene

Allergic/atopic asthma related QTL 13

AASTH15 Gene

Allergic/atopic asthma related QTL 15

AASTH14 Gene

Allergic/atopic asthma related QTL 14

AASTH16 Gene

Allergic/atopic asthma related QTL 16

BFD1 Gene

Body fluid distribution QTL 1

BFD3 Gene

Body fluid distribution QTL 3

BFD4 Gene

Body fluid distribution QTL 4

BFD5 Gene

Body fluid distribution QTL 5

SLEP3 Gene

Serum leptin concentration QTL 3

SLEP2 Gene

Serum leptin concentration QTL 2

SLEP1 Gene

Serum leptin concentration QTL 1

AASTH38 Gene

Allergic/atopic asthma related QTL 38

AASTH37 Gene

Allergic/atopic asthma related QTL 37

COPD3 Gene

Chronic obstructive pulmonary disease QTL 3

COPD2 Gene

Chronic obstructive pulmonary disease QTL 2

COPD1 Gene

Chronic obstructive pulmonary disease QTL 1

COPD6 Gene

Chronic obstructive pulmonary disease QTL 6

COPD5 Gene

Chronic obstructive pulmonary disease QTL 5

COPD4 Gene

Chronic obstructive pulmonary disease QTL 4

COPD8 Gene

Chronic obstructive pulmonary disease QTL 8

OA10 Gene

Osteoarthritis QTL 10

CPROTQ Gene

C-reactive protein QTL

BP1 Gene

Blood pressure QTL 1

BP3 Gene

Blood pressure QTL 3

BP2 Gene

Blood pressure QTL 2

BP5 Gene

Blood pressure QTL 5

BP4 Gene

Blood pressure QTL 4

BP7 Gene

Blood pressure QTL 7

BP6 Gene

Blood pressure QTL 6

BP9 Gene

Blood pressure QTL 9

BP8 Gene

Blood pressure QTL 8

OA30 Gene

Osteoarthritis QTL 29

SLI2 Gene

Specific language impairment QTL, 2

SLI3 Gene

Specific language impairment QTL, 3

SLI1 Gene

Specific language impairment QTL, 1

BW56 Gene

Body weight QTL 56

BW57 Gene

Body weight QTL 57

BW54 Gene

Body weight QTL 54

BW55 Gene

Body weight QTL 55

BW52 Gene

Body weight QTL 52

BW53 Gene

Body weight QTL 53

BW58 Gene

Body weight QTL 58

BW59 Gene

Body weight QTL 59

ALPQTL2 Gene

Alkaline phosphatase, plasma level of, QTL 2

AASTH48 Gene

Allergic/atopic asthma related QTL 48

AASTH49 Gene

Allergic/atopic asthma related QTL 49

RA24 Gene

Rheumatoid arthritis QTL 24

LBMQTL1 Gene

Lean body mass QTL 1

MENOQ1 Gene

menopause, natural, age at, QTL

CLQTL2 Gene

Cholesterol level QTL 2

TST2 Gene

Tuberculin skin test reactivity QTL

RA21 Gene

Rheumatoid arthritis QTL 21

RA20 Gene

Rheumatoid arthritis QTL 20

RA23 Gene

Rheumatoid arthritis QTL 23

RA22 Gene

Rheumatoid arthritis QTL 22

RA25 Gene

Rheumatoid arthritis QTL 25

RA27 Gene

Rheumatoid arthritis QTL 27

RA29 Gene

Rheumatoid arthritis QTL 29

RA28 Gene

Rheumatoid arthritis QTL 28

AASTH42 Gene

Allergic/atopic asthma related QTL 42

AASTH43 Gene

Allergic/atopic asthma related QTL 43

AASTH47 Gene

Allergic/atopic asthma related QTL 47

AASTH44 Gene

Allergic/atopic asthma related QTL 44

BW15 Gene

Body weight QTL 15

BW36 Gene

Body weight QTL 36

BW37 Gene

Body weight QTL 37

TSHQTL1 Gene

Thyroid-stimulating hormone level QTL 1

COHEN2 Gene

Cohen syndrome QTL 2

BW88 Gene

Body weight QTL 88

OSTEAR3_H Gene

Osteoarthritis QTL 3

COPD17 Gene

Chronic obstructive pulmonary disease QTL 17

AASTH9 Gene

Allergic/atopic asthma related QTL 9

AASTH8 Gene

Allergic/atopic asthma related QTL 8

AASTH7 Gene

Allergic/atopic asthma related QTL 7

AASTH6 Gene

Allergic/atopic asthma related QTL 6

AASTH1 Gene

Allergic/atopic asthma related QTL 1

AASTH3 Gene

Allergic/atopic asthma related QTL 3

AASTH2 Gene

Allergic/atopic asthma related QTL 2

RA18 Gene

Rheumatoid arthritis QTL 18

RA19 Gene

Rheumatoid arthritis QTL 19

RA10 Gene

Rheumatoid arthritis QTL 10

RA11 Gene

Rheumatoid arthritis QTL 11

RA12 Gene

Rheumatoid arthritis QTL 12

RA13 Gene

Rheumatoid arthritis QTL 13

RA14 Gene

Rheumatoid arthritis QTL 14

RA15 Gene

Rheumatoid arthritis QTL 15

RA16 Gene

Rheumatoid arthritis QTL 16

RA17 Gene

Rheumatoid arthritis QTL 17

BP51 Gene

Blood pressure QTL 51

BP50 Gene

Blood pressure QTL 50

BP53 Gene

Blood pressure QTL 53

BP52 Gene

Blood pressure QTL 52

BP55 Gene

Blood pressure QTL 55

BP54 Gene

Blood pressure QTL 54

STQTL23 Gene

Stature QTL 23

STQTL20 Gene

Stature QTL 20

BW35 Gene

Body weight QTL 35

BW30 Gene

Body weight QTL 30

BW33 Gene

Body weight QTL 33

COPD7 Gene

Chronic obstructive pulmonary disease QTL 7

COPD9 Gene

Chronic obstructive pulmonary disease QTL 9

AASTH29 Gene

Allergic/Atopic asthma related QTL 29

AASTH24 Gene

Allergic/atopic asthma related QTL 24

AASTH26 Gene

Allergic/atopic asthma related QTL 25

AASTH27 Gene

Allergic/atopic asthma related QTL 27

AASTH20 Gene

Allergic/atopic asthma related QTL 20

AASTH21 Gene

Allergic/atopic asthma related QTL 21

AASTH22 Gene

Allergic/atopic asthma related QTL 22

BW5 Gene

Body weight QTL 5

OA26 Gene

Osteoarthritis QTL 26

OA25 Gene

Osteoarthritis QTL 25

OA27 Gene

Osteoarthritis QTL 27

OA24 Gene

Osteoarthritis QTL 24

OA22 Gene

Osteoarthritis QTL 22

OA23 Gene

Osteoarthritis QTL 23

OA20 Gene

Osteoarthritis QTL 20

OA21 Gene

Osteoarthritis QTL 21

OA28 Gene

Osteoarthritis QTL 28

OA29 Gene

Osteoarthritis QTL 29

BW25 Gene

Body weight QTL 25

AASTH41 Gene

Allergic/Atopic asthma related QTL 41

AASTH46 Gene

Allergic/atopic asthma related QTL 46

STQTL17 Gene

Stature QTL 17

UAE1 Gene

Urinary albumin excretion QTL 1

UAE2 Gene

Urinary albumin excretion QTL 2

STQTL15 Gene

Stature QTL 15

STQTL13 Gene

Stature QTL 13

AASTH25 Gene

Allergic/atopic asthma related QTL 25

BW69 Gene

Body weight QTL 69

BW68 Gene

Body weight QTL 68

BW63 Gene

Body weight QTL 63

BW62 Gene

Body weight QTL 62

BW61 Gene

Body weight QTL 61

BW60 Gene

Body weight QTL 60

BW67 Gene

Body weight QTL 67

BW66 Gene

Body weight QTL 66

BW65 Gene

Body weight QTL 65

BW64 Gene

Body weight QTL 64

BW11 Gene

Body weight QTL 11

ADIPQTL3 Gene

Circulating adiponectin QTL on chromosome 14

AASTH55 Gene

Allergic/atopic asthma related QTL 5

AASTH54 Gene

Allergic/atopic asthma related QTL 54

AASTH56 Gene

Allergic/Atopic asthma related QTL 56

AASTH51 Gene

Allergic/atopic asthma related QTL 51

AASTH53 Gene

Allergic/atopic asthma related QTL 53

AASTH52 Gene

Allergic/atopic asthma related QTL 52

AASTH4 Gene

Allergic/atopic asthma related QTL 4

RA9 Gene

Rheumatoid arthritis QTL 09

BFD2 Gene

Body fluid distribution QTL 2

BP37 Gene

Blood pressure QTL 37

BP36 Gene

Blood pressure QTL 36

BP35 Gene

Blood pressure QTL 35

BP34 Gene

Blood pressure QTL 34

BP33 Gene

Blood pressure QTL 33

BP32 Gene

Blood pressure QTL 32

BP31 Gene

Blood pressure QTL 31

BP30 Gene

Blood pressure QTL 30

BP39 Gene

Blood pressure QTL 39

BP38 Gene

Blood pressure QTL 38

BP18 Gene

Blood pressure QTL 18

BP14 Gene

Blood pressure QTL 14

AASTH11 Gene

Allergic/atopic asthma related QTL 11

AASTH12 Gene

Allergic/atopic asthma related QTL 12

AASTH17 Gene

Allergic/atopic asthma related QTL 17

RA30 Gene

Rheumatoid arthritis QTL 30

RA31 Gene

Rheumatoid arthritis QTL 31

HBFQTL4 Gene

Fetal hemoglobin QTL on chromosome 8

BW12 Gene

Body weight QTL 12

BW13 Gene

Body weight QTL 13

BW10 Gene

Body weight QTL 10

BW16 Gene

Body weight QTL 16

BW17 Gene

Body weight QTL 17

BW14 Gene

Body weight QTL 14

BW18 Gene

Body weight QTL 18

BW19 Gene

Body weight QTL 19

AASTH19 Gene

Allergic/atopic asthma related QTL 19

AASTH10 Gene

Allergic/atopic asthma related QTL 10

STQTL16 Gene

Stature QTL 16

STQTL14 Gene

Stature QTL 14

STQTL12 Gene

Stature QTL 12

STQTL10 Gene

Stature QTL 10

MUSQTL1 Gene

Musical aptitude QTL 1

STQTL11 Gene

Stature QTL 11

STQTL18 Gene

Stature QTL 18

STQTL19 Gene

Stature QTL 19

BW34 Gene

Body weight QTL 34

BW31 Gene

Body weight QTL 31

BW32 Gene

Body weight QTL 32

AASTH50 Gene

Allergic/atopic asthma related QTL 50

BP46 Gene

Blood pressure QTL 46

BP47 Gene

Blood pressure QTL 47

BP45 Gene

Blood pressure QTL 45

BP48 Gene

Blood pressure QTL 48

BWQTL2 Gene

Birth weight QTL 2

COPD13 Gene

Chronic obstructive pulmonary disease QTL 13

COPD12 Gene

Chronic obstructive pulmonary disease QTL 12

COPD11 Gene

Chronic obstructive pulmonary disease QTL 11

COPD10 Gene

Chronic obstructive pulmonary disease QTL 10

COPD16 Gene

Chronic obstructive pulmonary disease QTL 16

COPD15 Gene

Chronic obstructive pulmonary disease QTL 15

COPD19 Gene

Chronic obstructive pulmonary disease QTL 19

COPD18 Gene

Chronic obstructive pulmonary disease QTL 18

OA7 Gene

Osteoarthritis QTL 7

OA6 Gene

Osteoarthritis QTL 6

OA5 Gene

Osteoarthritis QTL 5

OA4 Gene

Osteoarthritis QTL 4

OA2 Gene

Osteoarthritis QTL 2

OA1 Gene

Osteoarthritis QTL 1

OA9 Gene

Osteoarthritis QTL 9

OA8 Gene

Osteoarthritis QTL 8

AASTH39 Gene

Allergic/atopic asthma related QTL 39

AASTH36 Gene

Allergic/atopic asthma related QTL 36

AASTH35 Gene

Allergic/atopic asthma related QTL 35

AASTH34 Gene

Allergic/atopic asthma related QTL 34

AASTH33 Gene

Allergic/atopic asthma related QTL 33

AASTH32 Gene

Allergic/Atopic asthma related QTL 32

AASTH31 Gene

Allergic/atopic asthma related QTL 31

AASTH30 Gene

Allergic/atopic asthma related QTL 30

AASTH5 Gene

Allergic/atopic asthma related QTL 5

B6QTL1 Gene

Vitamin B6 plasma level QTL 1

STQTL24 Gene

Stature QTL 24

STQTL21 Gene

Stature QTL 21

MENAQ1 Gene

Menarche, age at, QTL

AASTH28 Gene

Allergic/Atopic asthma related QTL 28

AASTH23 Gene

Allergic/atopic asthma related QTL 23

STQTL22 Gene

Stature QTL 22

BP19 Gene

Blood pressure QTL 19

BP15 Gene

Blood pressure QTL 15

BP17 Gene

Blood pressure QTL 17

BP16 Gene

Blood pressure QTL 16

BP11 Gene

Blood pressure QTL 11

BP10 Gene

Blood pressure QTL 10

BP13 Gene

Blood pressure QTL 13

BP12 Gene

Blood pressure QTL 12

OA19 Gene

Osteoarthritis QTL 19

OA18 Gene

Osteoarthritis QTL 18

OA13 Gene

Osteoarthritis QTL 13

OA12 Gene

Osteoarthritis QTL 12

OA11 Gene

Osteoarthritis QTL 11

OA17 Gene

Osteoarthritis QTL 17

OA16 Gene

Osteoarthritis QTL 16

OA15 Gene

Osteoarthritis QTL 15

OA14 Gene

Osteoarthritis QTL 14

COPD28 Gene

Chronic obstructive pulmonary disease QTL 28

COPD29 Gene

Chronic obstructive pulmonary disease QTL 29

COPD22 Gene

Chronic obstructive pulmonary disease QTL 22

COPD23 Gene

Chronic obstructive pulmonary disease QTL 23

COPD20 Gene

Chronic obstructive pulmonary disease QTL 20

COPD21 Gene

Chronic obstructive pulmonary disease QTL 21

COPD26 Gene

Chronic obstructive pulmonary disease QTL 26

COPD27 Gene

Chronic obstructive pulmonary disease QTL 27

COPD24 Gene

Chronic obstructive pulmonary disease QTL 24

COPD25 Gene

Chronic obstructive pulmonary disease QTL 25

BW70 Gene

Body weight QTL 70

BW71 Gene

Body weight QTL 71

BW72 Gene

Body weight QTL 72

SXGQTL1 Gene

Sex hormone-binding blobulin circulating level QTL 1