Gene Gene information from NCBI Gene database.
Entrez ID 26100
Gene name WD repeat domain, phosphoinositide interacting 2
Gene symbol WIPI2
Synonyms (NCBI Gene)
ATG18BAtg21CGI-50IDDSSAWIPI-2
Chromosome 7
Chromosome location 7p22.1
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 su
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs756429763 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
546
miRTarBase ID miRNA Experiments Reference
MIRT052545 hsa-let-7a-5p CLASH 23622248
MIRT040290 hsa-miR-615-3p CLASH 23622248
MIRT037966 hsa-miR-505-5p CLASH 23622248
MIRT258412 hsa-miR-15b-5p PAR-CLIP 21572407
MIRT258423 hsa-miR-6838-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000045 Process Autophagosome assembly IMP 20505359, 28561066
GO:0000407 Component Phagophore assembly site IDA 22456507, 28561066, 33499712
GO:0000407 Component Phagophore assembly site IEA
GO:0000422 Process Autophagy of mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609225 32225 ENSG00000157954
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4P8
Protein name WD repeat domain phosphoinositide-interacting protein 2 (WIPI-2) (WIPI49-like protein 2)
Protein function Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:20505359, PubMed:28561066). Involve
PDB 7F69 , 7MU2 , 7XFR
Family and domains
Tissue specificity 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. {ECO:0000269|PubMed:15602573, ECO:0000269|PubMed:20505359}.
Sequence
MNLASQSGEAGAGQLLFANFNQDNTEVKGASRAAGLGRRAVVWSLAVGSKSGYKFFSLSS
VDKLEQIYECTDTEDVCIVERLFSSSLVAIVSLKAPRKLKVCHFKKGTEICNYSYSNTIL
AVKLNRQRLIVCLEESLYIHNIRDMKVLHTIRETPPNPAGLCALSINNDNCYLAYPGSAT
IGEVQVFDTINLRAANMIPAHDSPLAALAFDASGTKLATASEKGTVIRVFSIPEGQKLFE
FRRGVKRCVSICSLAFSMDGMFLSASSNTETVHIFKLETVKEKPPEEPTTWTGYFGKVLM
ASTSYLPSQVTEMFNQGRAFATVRLPFCGHKNICSLATIQKIPRLLVGAADGYLYMYNLD
PQEGGECALMKQHRLDGSLETTNEILDSASHDCPLVTQTYGAAAGKGTYVPSSPTRLAYT
DDLGAVGGACLEDEASALRLDEDSEHPPMILRTD
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - other
Autophagy - animal
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Shigellosis
  Macroautophagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder with short stature and variable skeletal anomalies Pathogenic rs2115280647, rs756429763 RCV001774826
RCV000782105
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs4587243 RCV005937152
WIPI2-related disorder Likely benign; Benign rs138018731, rs4587243, rs1134489, rs41280678, rs150356826, rs11760558, rs139158009, rs780256529, rs147945082, rs28605777, rs34104542, rs35062616, rs61736544, rs146199183, rs191643610 RCV003966421
RCV003974529
RCV003974540
RCV003974109
RCV003911758
RCV003916990
RCV003922269
RCV003962285
RCV003976553
RCV003926090
RCV003926091
RCV003915815
RCV003928480
RCV003910528
RCV003955849
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 37639066
Carcinogenesis Associate 24991767
Carcinoma Hepatocellular Associate 32323845
Colorectal Neoplasms Associate 32468035, 33357130
Developmental Disabilities Associate 30968111
Growth Disorders Associate 30968111
Leukemia Promyelocytic Acute Inhibit 24991767
Neoplasms Associate 24991767
Neoplasms Stimulate 32323845
Pancreatic Neoplasms Associate 35199935