Gene: ANO2
Alternate names for this Gene: C12orf3|TMEM16B
Gene Summary: ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.151051.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gene is located in Chromosome: 12
Location in Chromosome : 12p13.31
Description of this Gene: anoctamin 2
Type of Gene: protein-coding
Gene: VWF
Alternate names for this Gene: F8VWF|VWD
Gene Summary: 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.
Gene is located in Chromosome: 12
Location in Chromosome : 12p13.31
Description of this Gene: von Willebrand factor
Type of Gene: protein-coding
rs61751305 in
ANO2;VWF gene and
von Willebrand Disease, Type 3
PMID 8088787 1994 Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.
PMID 7989040 1994 Genetic heterogeneity of severe von Willebrand disease type III in the German population.