WDR45B (WD repeat domain 45B)

2014-11-01  

Identity

HGNC
WDR45B
LOCATION
17q25.3
LOCUSID
56270
ALIAS
NEDSBAS,WDR45L,WIPI-3,WIPI3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56270
MIM: 609226
HGNC: 25072
Ensembl: ENSG00000141580

Variants:

dbSNP: 56270
ClinVar: 56270
TCGA: ENSG00000141580
COSMIC: WDR45B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141580ENST00000392325Q5MNZ6
ENSG00000141580ENST00000571817I3L4L8
ENSG00000141580ENST00000572583I3L4S6
ENSG00000141580ENST00000573616I3L1D0
ENSG00000141580ENST00000576517I3L3A5

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

References

Pubmed IDYearTitleCitations
359626002022A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.1
359626002022A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.1
324831322020Multi-site-mediated entwining of the linear WIR-motif around WIPI β-propellers for autophagy.19
324831322020Multi-site-mediated entwining of the linear WIR-motif around WIPI β-propellers for autophagy.19
285037352018WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.24
285037352018WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.24
285610662017WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.101
285610662017WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.101

Citation

Dessen P

WDR45B (WD repeat domain 45B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75716/wdr45b-(wd-repeat-domain-45b)