Gene: HABP2

Alternate names for this Gene: FSAP|HABP|HGFAL|NMTC5|PHBP

Gene Summary: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.3

Description of this Gene: hyaluronan binding protein 2

Type of Gene: protein-coding

Gene: NRAP

Alternate names for this Gene: N-RAP

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.3

Description of this Gene: nebulin related anchoring protein

Type of Gene: protein-coding

rs7080536 in HABP2;NRAP gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs7080536 in HABP2;NRAP gene and Cardiac troponin I measurement PMID 31014085 2019 Cardiac Troponin T and Troponin I in the General Population.

rs7080536 in HABP2;NRAP gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.