WDR45B (WD repeat domain 45B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56270
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 45B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR45B
Synonyms (NCBI Gene) Gene synonyms aliases
NEDSBAS, WDR45L, WIPI-3, WIPI3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDSBAS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IMP 28561066
GO:0000407 Component Phagophore assembly site IDA 28561066
GO:0000422 Process Autophagy of mitochondrion IBA 21873635
GO:0005515 Function Protein binding IPI 28561066
GO:0005764 Component Lysosome IDA 28561066
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609226 25072 ENSG00000141580
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 21937992
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES rs786205510, rs1555647262 28503735
Spastic paraplegia Spastic Paraplegia rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520
View all (368 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures GenCC
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining
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