Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26100
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain, phosphoinositide interacting 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WIPI2
Synonyms (NCBI Gene) Gene synonyms aliases
ATG18B, Atg21, CGI-50, IDDSSA, WIPI-2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs756429763 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609225 32225 ENSG00000157954
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual developmental disorder with short stature and variable skeletal anomalies rs756429763 N/A
Associations from Text Mining Disease 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