WIPI2 Chromosome 7
WD repeat domain, phosphoinositide interacting 2
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What This Gene Does
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 Info
Gene Group
"WD repeat domain containing|Autophagy related|WIPI family"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000157954
Associated Conditions (1)
Intellectual developmental disorder with short stature and variable skeletal anomalies
Key Variants
RS2115280647
Pathogenic
Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies
Health Risk
RS756429763
Pathogenic
Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2115280647 | Health Risk | Pathogenic | Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies |
| RS756429763 | Health Risk | Pathogenic | Intellectual developmental disorder with short stature and variable skeletal anomalies, Intellectual developmental disorder with short stature and variable skeletal anomalies |