Human Gene WIPI2 (uc003snv.3) Description and Page Index
Description: Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA. RefSeq Summary (NM_015610): 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]. Transcript (Including UTRs) Position: hg19 chr7:5,229,835-5,273,486 Size: 43,652 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr7:5,230,051-5,270,578 Size: 40,528 Coding Exon Count: 13
ID:WIPI2_HUMAN DESCRIPTION: RecName: Full=WD repeat domain phosphoinositide-interacting protein 2; Short=WIPI-2; AltName: Full=WIPI49-like protein 2; FUNCTION: Probable early component of the autophagy machinery being involved in formation of preautophagosomal structures and their maturation into mature phagosomes in response to PtdIns3P. May bind PtdIns3P. SUBUNIT: Interacts with TECPR1. SUBCELLULAR LOCATION: Preautophagosomal structure membrane; Peripheral membrane protein; Cytoplasmic side. Note=Enriched at preautophagosomal structure membranes in response to ptdIns3P. TISSUE SPECIFICITY: Ubiquitously expressed (at protein level). Highly expressed in heart, skeletal muscle and pancreas. Expression is down-regulated in pancreatic and in kidney tumors. SIMILARITY: Belongs to the WD repeat SVP1 family. SIMILARITY: Contains 3 WD repeats.
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y4P8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.