WDR45 (WD repeat domain 45)

2014-11-01  

Identity

HGNC
WDR45
LOCATION
Xp11.23
LOCUSID
11152
ALIAS
JM5,NBIA4,NBIA5,WDRX1,WIPI-4,WIPI4

Other Information

Locus ID:

NCBI: 11152
MIM: 300526
HGNC: 28912
Ensembl: ENSG00000196998

Variants:

dbSNP: 11152
ClinVar: 11152
TCGA: ENSG00000196998
COSMIC: WDR45

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196998ENST00000322995Q9Y484
ENSG00000196998ENST00000322995A0A024QYW6
ENSG00000196998ENST00000356463Q9Y484
ENSG00000196998ENST00000367375H0Y329
ENSG00000196998ENST00000376368Q9Y484
ENSG00000196998ENST00000376372Q9Y484
ENSG00000196998ENST00000376372A0A024QYX1
ENSG00000196998ENST00000396681G8JLI5
ENSG00000196998ENST00000419567C9JUS5
ENSG00000196998ENST00000423215C9J7Q8
ENSG00000196998ENST00000465382C9JE01
ENSG00000196998ENST00000471338C9J5L0
ENSG00000196998ENST00000473974C9J471
ENSG00000196998ENST00000474053C9JBX7
ENSG00000196998ENST00000475880C9J0A8
ENSG00000196998ENST00000475977H7C4N7
ENSG00000196998ENST00000476728C9JVT3
ENSG00000196998ENST00000485908C9JYH8
ENSG00000196998ENST00000486337H7C5B4
ENSG00000196998ENST00000634522A0A0U1RR42
ENSG00000196998ENST00000634559A0A0U1RQG6
ENSG00000196998ENST00000634671A0A0U1RQJ7
ENSG00000196998ENST00000634736A0A0U1RRJ9
ENSG00000196998ENST00000634838A0A0U1RR06
ENSG00000196998ENST00000634849A0A0U1RQS7
ENSG00000196998ENST00000634944Q9Y484
ENSG00000196998ENST00000634944A0A024QYX1
ENSG00000196998ENST00000635003A0A0U1RQM7
ENSG00000196998ENST00000635344A0A0U1RRJ2
ENSG00000196998ENST00000635666A0A0U1RQR1
ENSG00000196998ENST00000636049A0A1B0GV56
ENSG00000196998ENST00000636645A0A1Y8EKY4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
234350862013De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.119
231768202012Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.104
236871232013β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.55
285610662017WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.32
293256182018Neurodegeneration with brain iron accumulation.12
252630612014Early manifestations of BPAN in a pediatric patient.11
291710132018Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.10
243681762014Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.9
270301462016WDR45 mutations in three male patients with West syndrome.9
264818522016Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.6

Citation

Dessen P

WDR45 (WD repeat domain 45)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75715/wdr45