WIPI2 WD repeat domain, phosphoinositide interacting 2

Gene ID: 26100, updated on 11-Apr-2024
Gene type: protein coding
Also known as: Atg21; ATG18B; CGI-50; IDDSSA; WIPI-2

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual developmental disorder with short stature and variable skeletal anomalies MedGen: C5193105OMIM: 618453GeneReviews: Not available	not available

Genomic context

Location:: 7p22.1

Sequence:: Chromosome: 7; NC_000007.14 (5190233..5233855)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for WIPI2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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