Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

188

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
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT252052	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT565007	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT491939	hsa-miR-595	PAR-CLIP	20371350
MIRT565006	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT565005	hsa-miR-4643	PAR-CLIP	20371350
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	20371350
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT565004	hsa-miR-466	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT491939	hsa-miR-595	PAR-CLIP	20371350
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT491939	hsa-miR-595	PAR-CLIP	21572407
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT491937	hsa-miR-648	PAR-CLIP	21572407
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT491930	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT491928	hsa-miR-548aw	PAR-CLIP	21572407
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	24398324
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	24398324
MIRT491939	hsa-miR-595	PAR-CLIP	24398324
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	24398324
MIRT491937	hsa-miR-648	PAR-CLIP	24398324
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	24398324
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	24398324
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	24398324
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	24398324
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	24398324
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	24398324
MIRT491930	hsa-miR-524-5p	PAR-CLIP	24398324
MIRT491928	hsa-miR-548aw	PAR-CLIP	24398324
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT491939	hsa-miR-595	PAR-CLIP	23592263
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT491937	hsa-miR-648	PAR-CLIP	23592263
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT491930	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT491928	hsa-miR-548aw	PAR-CLIP	23592263
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	26701625
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	26701625
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	26701625
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	26701625
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	26701625
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	26701625
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	26701625
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	26701625
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	26701625
MIRT491930	hsa-miR-524-5p	PAR-CLIP	26701625
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	26701625
MIRT491928	hsa-miR-548aw	PAR-CLIP	26701625
MIRT491928	hsa-miR-548aw	PAR-CLIP	26701625
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	26701625
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	26701625
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	26701625
MIRT491939	hsa-miR-595	PAR-CLIP	26701625
MIRT491939	hsa-miR-595	PAR-CLIP	26701625
MIRT491937	hsa-miR-648	PAR-CLIP	26701625
MIRT491937	hsa-miR-648	PAR-CLIP	26701625
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT491939	hsa-miR-595	PAR-CLIP	20371350
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT252052	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT565007	hsa-miR-494-3p	PAR-CLIP	20371350
MIRT491939	hsa-miR-595	PAR-CLIP	20371350
MIRT565006	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT565005	hsa-miR-4643	PAR-CLIP	20371350
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	20371350
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT565004	hsa-miR-466	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT491939	hsa-miR-595	PAR-CLIP	20371350
MIRT491937	hsa-miR-648	PAR-CLIP	20371350
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT491930	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT491928	hsa-miR-548aw	PAR-CLIP	20371350
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT491939	hsa-miR-595	PAR-CLIP	21572407
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT491937	hsa-miR-648	PAR-CLIP	21572407
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT491930	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT491928	hsa-miR-548aw	PAR-CLIP	21572407
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	24398324
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	24398324
MIRT491939	hsa-miR-595	PAR-CLIP	24398324
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	24398324
MIRT491937	hsa-miR-648	PAR-CLIP	24398324
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	24398324
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	24398324
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	24398324
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	24398324
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	24398324
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	24398324
MIRT491930	hsa-miR-524-5p	PAR-CLIP	24398324
MIRT491928	hsa-miR-548aw	PAR-CLIP	24398324
MIRT491941	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT491940	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT491939	hsa-miR-595	PAR-CLIP	23592263
MIRT491938	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT491937	hsa-miR-648	PAR-CLIP	23592263
MIRT491936	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT491935	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT491934	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT491933	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT491932	hsa-miR-1468-3p	PAR-CLIP	23592263
MIRT491931	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT491930	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT491928	hsa-miR-548aw	PAR-CLIP	23592263

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
GO:0005515	Function	Protein binding	IPI	28561066, 34504087
GO:0005764	Component	Lysosome	IDA	28561066
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0006914	Process	Autophagy	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	28561066
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	28561066
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034497	Process	Protein localization to phagophore assembly site	IBA
GO:0044804	Process	Nucleophagy	IBA
GO:0061723	Process	Glycophagy	IBA
GO:0062078	Function	TSC1-TSC2 complex binding	IDA	28561066
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	28561066

MIM	HGNC	e!Ensembl
609226	25072	ENSG00000141580

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

	KEGG		Reactome
	Autophagy - animal		Macroautophagy

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	Likely pathogenic; Pathogenic	rs786205510, rs1391857942, rs1555647262	RCV000627096 RCV003326702 RCV000627097	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WDR45B-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	Pubtator	35322404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35322404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28503735		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	33636118	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35322404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	GENOMICS_ENGLAND_DG	28503735		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35322404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28561066		★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR45B (WD repeat domain 45B)