WDR45B (WD repeat domain 45B)

2014-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
NEDSBAS,WDR45L,WIPI-3,WIPI3
FUSION GENES

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

Pathways

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

References

Pubmed IDYearTitleCitations
285610662017WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.32
285037352018WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.4

Citation

Dessen P

WDR45B (WD repeat domain 45B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75716/wdr45b