Harmonizome 3.0

Fasting plasma glucose level QTL 4

Fasting plasma glucose level QTL 6

Fasting plasma glucose level QTL 1

Alkaline phosphatase, plasma level of, QTL 2

Vitamin B6 plasma level QTL 1

Fasting plasma glucose level QTL2

Fasting plasma glucose level QTL3

Alkaline phosphatase, plasma level of, QTL3

Alkaline phosphatase, plasma level of, QTL4

Polyunsaturated fatty acids plasma level QTL1

Alkaline phosphatase, plasma level of, QTL1

microsomal triglyceride transfer protein

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

High density lipoprotein cholesterol level QTL 6

high density lipoprotein cholesterol level QTL 1

Cholesterol level QTL 2

Thyroid-stimulating hormone level QTL 1

High density lipoprotein cholesterol level QTL 4

High density lipoprotein cholesterol level QTL 5

High density lipoprotein cholesterol level QTL on chromosome 8

Sex hormone-binding blobulin circulating level QTL 1

Adiponectin, serum level of, QTL5

Adiponectin, serum level of, QTL4

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

selenoprotein P, plasma, 1

This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018]

pregnancy-associated plasma protein A, pappalysin 1

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]

cholesteryl ester transfer protein, plasma

The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

ATPase, Ca++ transporting, plasma membrane 1 pseudogene

retinol binding protein 4, plasma

This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

kallikrein B, plasma (Fletcher factor) 1

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

carboxypeptidase B2 (plasma)

Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

fucosidase, alpha-L- 2, plasma

This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]

adipocyte plasma membrane associated protein

Enables arylesterase activity. Predicted to be involved in biosynthetic process. Located in cell surface and membrane. [provided by Alliance of Genome Resources, Mar 2025]

ATPase, Ca++ transporting, plasma membrane 1

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATPase, Ca++ transporting, plasma membrane 3

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATPase, Ca++ transporting, plasma membrane 2

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATPase, Ca++ transporting, plasma membrane 4

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

protein Z, vitamin K-dependent plasma glycoprotein

This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Allergic/atopic asthma related QTL 40

Allergic/atopic asthma related QTL 45

Blood pressure QTL 49

body mass index QTL 6

body mass index QTL 5

body mass index QTL 2

body mass index QTL 3

body mass index QTL 1

Heart rate QTL 1

Creatinine clearance QTL

Blood pressure QTL 24

Blood pressure QTL 25

Blood pressure QTL 26

Blood pressure QTL 27

Blood pressure QTL 20

Blood pressure QTL 21

Blood pressure QTL 22

Blood pressure QTL 23

Blood pressure QTL 28

Blood pressure QTL 29

Body weight QTL 1

Body weight QTL 2

Body weight QTL 3

Body weight QTL 4

Body weight QTL 6

Body weight QTL 7

Body weight QTL 8

Body weight QTL 9

Cohen syndrome QTL 1

Rheumatoid arthritis QTL 26

Body weight QTL 27

Body weight QTL 26

Body weight QTL 24

Body weight QTL 23

Body weight QTL 22

Body weight QTL 20

Body weight QTL 29

Body weight QTL 28

Chronic obstructive pulmonary disease QTL 14

Circulating adiponectin QTL on chromosome 5

Bone mineral density QTL 9

Bone mineral density QTL 6

Bone mineral density variation QTL 5

Body mass index QTL 15

Rheumatoid arthritis QTL 06

Rheumatoid arthritis QTL 07

Rheumatoid arthritis QTL 04

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 02

Rheumatoid arthritis QTL 01

Rheumatoid arthritis QTL 08

Allergic/atopic asthma related QTL 18

Allergic/atopic asthma related QTL 13

Allergic/atopic asthma related QTL 15

Allergic/atopic asthma related QTL 14

Allergic/atopic asthma related QTL 16

Body fluid distribution QTL 1

Body fluid distribution QTL 3

Body fluid distribution QTL 4

Body fluid distribution QTL 5

Serum leptin concentration QTL 3

Serum leptin concentration QTL 2

Serum leptin concentration QTL 1

Allergic/atopic asthma related QTL 38

Allergic/atopic asthma related QTL 37

Chronic obstructive pulmonary disease QTL 3

Chronic obstructive pulmonary disease QTL 2

Chronic obstructive pulmonary disease QTL 1

Chronic obstructive pulmonary disease QTL 6

Chronic obstructive pulmonary disease QTL 5

Chronic obstructive pulmonary disease QTL 4

Chronic obstructive pulmonary disease QTL 8

Osteoarthritis QTL 10

Bone size QTL

C-reactive protein QTL

Blood pressure QTL 1

Blood pressure QTL 3

Blood pressure QTL 2

Blood pressure QTL 5

Blood pressure QTL 4

Blood pressure QTL 7

Blood pressure QTL 6

Blood pressure QTL 9

Blood pressure QTL 8

Osteoarthritis QTL 29

Specific language impairment QTL, 2

Specific language impairment QTL, 3

Specific language impairment QTL, 1

Body weight QTL 56

Body weight QTL 57

Body weight QTL 54

Body weight QTL 55

Body weight QTL 52

Body weight QTL 53

Body weight QTL 58

Body weight QTL 59

Allergic/atopic asthma related QTL 48

Allergic/atopic asthma related QTL 49

Rheumatoid arthritis QTL 24

Lean body mass QTL 1

menopause, natural, age at, QTL

Tuberculin skin test reactivity QTL

Rheumatoid arthritis QTL 21

Rheumatoid arthritis QTL 20

Rheumatoid arthritis QTL 23

Rheumatoid arthritis QTL 22

Rheumatoid arthritis QTL 25

Rheumatoid arthritis QTL 27

Rheumatoid arthritis QTL 29

Rheumatoid arthritis QTL 28

Allergic/atopic asthma related QTL 42

Allergic/atopic asthma related QTL 43

Allergic/atopic asthma related QTL 47

Allergic/atopic asthma related QTL 44

Body weight QTL 15

Body weight QTL 36

Body weight QTL 37

Cohen syndrome QTL 2

Body weight QTL 88

Osteoarthritis QTL 3

Chronic obstructive pulmonary disease QTL 17

Allergic/atopic asthma related QTL 9

Allergic/atopic asthma related QTL 8

Allergic/atopic asthma related QTL 7

Allergic/atopic asthma related QTL 6

Allergic/atopic asthma related QTL 1

Allergic/atopic asthma related QTL 3

Allergic/atopic asthma related QTL 2

Rheumatoid arthritis QTL 18

Rheumatoid arthritis QTL 19

Rheumatoid arthritis QTL 10

Rheumatoid arthritis QTL 11

Rheumatoid arthritis QTL 12

Rheumatoid arthritis QTL 13

Rheumatoid arthritis QTL 14

Rheumatoid arthritis QTL 15

Rheumatoid arthritis QTL 16

Rheumatoid arthritis QTL 17

Blood pressure QTL 51

Blood pressure QTL 50

Blood pressure QTL 53

Blood pressure QTL 52

Blood pressure QTL 55

Blood pressure QTL 54

Stature QTL 23

Stature QTL 20

Body weight QTL 35

Body weight QTL 30

Body weight QTL 33

Chronic obstructive pulmonary disease QTL 7

Chronic obstructive pulmonary disease QTL 9

Allergic/Atopic asthma related QTL 29

Allergic/atopic asthma related QTL 24

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 27

Allergic/atopic asthma related QTL 20

Allergic/atopic asthma related QTL 21

Allergic/atopic asthma related QTL 22

Body weight QTL 5

Osteoarthritis QTL 26

Osteoarthritis QTL 25

Osteoarthritis QTL 27

Osteoarthritis QTL 24

Osteoarthritis QTL 22

Osteoarthritis QTL 23

Osteoarthritis QTL 20

Osteoarthritis QTL 21

Osteoarthritis QTL 28

Osteoarthritis QTL 29

Body weight QTL 25

Allergic/Atopic asthma related QTL 41

Allergic/atopic asthma related QTL 46

Stature QTL 17

Urinary albumin excretion QTL 1

Urinary albumin excretion QTL 2

Stature QTL 15

Stature QTL 13

Bone mineral density QTL 10

Bone mineral density QTL 11

Bone mineral density QTL 13

Bone mineral density QTL 14

Allergic/atopic asthma related QTL 25

Body weight QTL 69

Body weight QTL 68

Body weight QTL 63

Body weight QTL 62

Body weight QTL 61

Body weight QTL 60

Body weight QTL 67

Body weight QTL 66

Body weight QTL 65

Body weight QTL 64

Bone size QTL

Body weight QTL 11

Circulating adiponectin QTL on chromosome 14

Allergic/atopic asthma related QTL 5

Allergic/atopic asthma related QTL 54

Allergic/Atopic asthma related QTL 56

Allergic/atopic asthma related QTL 51

Allergic/atopic asthma related QTL 53

Allergic/atopic asthma related QTL 52

Bone mineral density variation QTL 4

Allergic/atopic asthma related QTL 4

Rheumatoid arthritis QTL 09

Body fluid distribution QTL 2

Blood pressure QTL 37

Blood pressure QTL 36

Blood pressure QTL 35

Blood pressure QTL 34

Blood pressure QTL 33

Blood pressure QTL 32

Blood pressure QTL 31

Blood pressure QTL 30

Blood pressure QTL 39

Blood pressure QTL 38

Blood pressure QTL 18

Blood pressure QTL 14

Allergic/atopic asthma related QTL 11

Allergic/atopic asthma related QTL 12

Allergic/atopic asthma related QTL 17

Rheumatoid arthritis QTL 30

Rheumatoid arthritis QTL 31

Fetal hemoglobin QTL on chromosome 8

Body weight QTL 12

Body weight QTL 13

Body weight QTL 10

Body weight QTL 16

Body weight QTL 17

Body weight QTL 14

Body weight QTL 18

Body weight QTL 19

Allergic/atopic asthma related QTL 19

Allergic/atopic asthma related QTL 10

Stature QTL 16

Stature QTL 14

Stature QTL 12

Stature QTL 10

Musical aptitude QTL 1

Stature QTL 11

Stature QTL 18

Stature QTL 19

Body weight QTL 34

Body weight QTL 31

Body weight QTL 32

Allergic/atopic asthma related QTL 50

Blood pressure QTL 46

Blood pressure QTL 47

Blood pressure QTL 45

Blood pressure QTL 48

Birth weight QTL 2

Chronic obstructive pulmonary disease QTL 13

Chronic obstructive pulmonary disease QTL 12

Chronic obstructive pulmonary disease QTL 11

Chronic obstructive pulmonary disease QTL 10

Chronic obstructive pulmonary disease QTL 16

Chronic obstructive pulmonary disease QTL 15

Chronic obstructive pulmonary disease QTL 19

Chronic obstructive pulmonary disease QTL 18

Osteoarthritis QTL 7

Osteoarthritis QTL 6

Osteoarthritis QTL 5

Osteoarthritis QTL 4

Osteoarthritis QTL 2

Osteoarthritis QTL 1

Osteoarthritis QTL 9

Osteoarthritis QTL 8

Allergic/atopic asthma related QTL 39

Allergic/atopic asthma related QTL 36

Allergic/atopic asthma related QTL 35

Allergic/atopic asthma related QTL 34

Allergic/atopic asthma related QTL 33

Allergic/Atopic asthma related QTL 32

Allergic/atopic asthma related QTL 31

Allergic/atopic asthma related QTL 30

Allergic/atopic asthma related QTL 5

Stature QTL 24

Stature QTL 21

Menarche, age at, QTL

Allergic/Atopic asthma related QTL 28

Allergic/atopic asthma related QTL 23

Stature QTL 22

Blood pressure QTL 19

Blood pressure QTL 15

Blood pressure QTL 17

Blood pressure QTL 16

Blood pressure QTL 11

Blood pressure QTL 10

Blood pressure QTL 13

Blood pressure QTL 12

Osteoarthritis QTL 19

Osteoarthritis QTL 18

Osteoarthritis QTL 13

Osteoarthritis QTL 12

Osteoarthritis QTL 11

Osteoarthritis QTL 17

Osteoarthritis QTL 16

Osteoarthritis QTL 15

Osteoarthritis QTL 14

Chronic obstructive pulmonary disease QTL 28

Chronic obstructive pulmonary disease QTL 29

Chronic obstructive pulmonary disease QTL 22

Chronic obstructive pulmonary disease QTL 23

Chronic obstructive pulmonary disease QTL 20

Chronic obstructive pulmonary disease QTL 21

Chronic obstructive pulmonary disease QTL 26

Chronic obstructive pulmonary disease QTL 27

Chronic obstructive pulmonary disease QTL 24

Chronic obstructive pulmonary disease QTL 25

Body weight QTL 70

Body weight QTL 71

Body weight QTL 72