WDR45B (WD repeat domain 45B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56270
Gene name WD repeat domain 45B
Gene symbol WDR45B
Synonyms (NCBI Gene)
NEDSBASWDR45LWIPI-3WIPI3
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif fo
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs786205510 G>A Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs1555647262 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
188
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (188)
miRTarBase ID miRNA Experiments Reference
MIRT039009 hsa-miR-766-3p CLASH 23622248
MIRT037428 hsa-miR-744-5p CLASH 23622248
MIRT491941 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT491940 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT491939 hsa-miR-595 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IMP 28561066
GO:0000407 Component Phagophore assembly site IDA 28561066
GO:0000407 Component Phagophore assembly site IEA
GO:0000422 Process Autophagy of mitochondrion IBA
GO:0000425 Process Pexophagy IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609226 25072 ENSG00000141580
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5MNZ6
Protein name WD repeat domain phosphoinositide-interacting protein 3 (WIPI-3) (WD repeat-containing protein 45-like) (WDR45-like protein) (WD repeat-containing protein 45B) (WIPI49-like protein)
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:28561066). Binds phosphatidylinosit
PDB 6IYY , 6KLR , 8ZQG , 9C9I , 9CE3
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in heart, skeletal muscle and pancreas. Up-regulated in a variety of tumor tissues including ovarian and uterine cancers. {ECO:0000269|PubMed:15602573}.
Sequence 
MNLLPCNPHGNGLLYAGFNQDHGCFACGMENGFRVYNTDPLKEKEKQEFLEGGVGHVEML
FRCNYLALVGGGKKPKYPPNKVMIWDDLKKKTVIEIEFSTEVKAVKLRRDRIVVVLDSMI
KVFTFTHNPHQLHVFETCYNPKGLCVLCPNSNNSLLAFPGTHTGHVQLVDLASTEKPPVD
IPAHEGVLSCIALNLQGTRIATASEKGTLIRIFDTSSGHLIQELRRGSQAANIYCINFNQ
DASLICVSSDHGTVHIFAAEDPKRNKQSSLASASFLPKYFSSKWSFSKFQVPSGSPCICA
FGTEPNAVIAICADGSYYKFLFNPKGECIRDVYAQFLEMTDDKL
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Autophagy - animal   Macroautophagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures Likely pathogenic; Pathogenic rs786205510, rs1391857942, rs1555647262 RCV000627096
RCV003326702
RCV000627097
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs12950772 RCV005930033
Germ cell tumor of testis Benign rs12950772 RCV005930036
Malignant lymphoma, large B-cell, diffuse Benign rs12950772 RCV005930034
Uterine carcinosarcoma Benign rs12950772 RCV005930035
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Right Ventricular Dilated Associate 35322404
Central Nervous System Vascular Malformations Associate 35322404
Congenital disorder of glycosylation type 2A Associate 35322404
Developmental Disabilities Associate 35322404
Heredodegenerative Disorders Nervous System Associate 33636118
Intellectual Disability Associate 33636118
Microcephaly Associate 35322404
Quadriplegia Associate 35322404
Seizures Associate 35322404
Tooth Loss Associate 35322404