WDR62 (WD repeat domain 62)

2014-02-01  

Identity

HGNC
WDR62
LOCATION
19q13.12
LOCUSID
284403
ALIAS
C19orf14,MCPH2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 284403
MIM: 613583
HGNC: 24502
Ensembl: ENSG00000075702

Variants:

dbSNP: 284403
ClinVar: 284403
TCGA: ENSG00000075702
COSMIC: WDR62

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075702ENST00000270301O43379
ENSG00000075702ENST00000401500O43379
ENSG00000075702ENST00000427823H7C3R4
ENSG00000075702ENST00000587391O43379
ENSG00000075702ENST00000644764A0A2R8YD43

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
199104862010A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation.36
217493262011Docking interactions of the JNK scaffold protein WDR62.14
253851922015Variants in CUL4B are associated with cerebral malformations.14
289733482017PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.9
311971412019Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors.8
233414632013Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins.5
287560002018A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.3
300916412018WDR62 mediates TNFα-dependent JNK activation via TRAF2-MLK3 axis.2
308841272019Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.1
207298312010Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.0

Citation

Dessen P

WDR62 (WD repeat domain 62)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53801/wdr62