Von Willebrand Factor (VWF) is a multimeric glycoprotein involved in hemostasis in blood, binds receptors on the surface of platelets and in connective tissue, thereby mediating the adhesion of platelets to sites of vascular injury. From studies it appears that VWF protein uncoils under these circumstances, decelerating passing platelets. VWF protein is deficient or defective in von Willebrand disease (VWD) and is involved in a large number of other diseases, including thrombosis, thrombotic thrombocytopenic purpura, Stroke, Heyde's syndrome, possibly hemolytic-uremic syndrome and so on.
This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22.
This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation.
This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene.
WFDC2 (WAP four-disulfide core domain protein 2), also known as human epididymal secretory protein E4 (HE4), is a small secreted broad range protease inhibitor. WFDC2 is a diagnostic marker in ovarian, endometrial and other cancers, and can be detected in patient serum. WFDC2 expression promotes tumor growth, contributes to metastasis and epithelial mesenchymal transition (EMT), and regulates angiogenesis and immunogenic signaling in the tumor microenvironment.
WHSC1, also known as MMSET or NSD2, is a SET domain containing histone lysine methyltransferase that can di- and trimethylate histone H3 at lysine 36 (H3K36). WHSC1 mRNA is highly expressed in embryonic tissues, especially those with high degrees of proliferation, whereas in adult tissues, the mRNA is primarily expressed in thymus and testis. WHSC1 is implicated in cellular adhesion, clonogenic growth and tumorigenicity. Its overexpression has been found in various cancers. It undergoes alternative splicing resulting in different protein isoforms. Recently WHSC1 has been identified as a critical epigenetic regulator for Tfh differentiation.
This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated.
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