Gene: WIPI2

Alternate names for this Gene: ATG18B|Atg21|CGI-50|IDDSSA|WIPI-2

Gene Summary: WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: WD repeat domain, phosphoinositide interacting 2

Type of Gene: protein-coding

rs4720530 in WIPI2 gene and Bone Density PMID 29518117 2018 Nuclear receptor and VEGF pathways for gene-blood lead interactions, on bone mineral density, in Korean smokers.

rs11771301 in WIPI2 gene and Finding of Mean Corpuscular Hemoglobin 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.

rs11761408 in WIPI2 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6463311 in WIPI2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11771301 in WIPI2 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4720530 in WIPI2 gene and Smoking PMID 29518117 2018 Nuclear receptor and VEGF pathways for gene-blood lead interactions, on bone mineral density, in Korean smokers.

rs4720530 in WIPI2 gene and Smoking Behaviors PMID 29518117 2018 Nuclear receptor and VEGF pathways for gene-blood lead interactions, on bone mineral density, in Korean smokers.