WDR19 (WD repeat domain 19)

2008-05-01  

Identity

HGNC
WDR19
LOCATION
4p14
LOCUSID
57728
ALIAS
ATD5,CED4,DYF-2,FAP66,IFT144,NPHP13,ORF26,Oseg6,PWDMP,SRTD5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57728
MIM: 608151
HGNC: 18340
Ensembl: ENSG00000157796

Variants:

dbSNP: 57728
ClinVar: 57728
TCGA: ENSG00000157796
COSMIC: WDR19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157796ENST00000399820Q8NEZ3
ENSG00000157796ENST00000503697D6RCF7
ENSG00000157796ENST00000505055D6RIE4
ENSG00000157796ENST00000506503D6R9P6
ENSG00000157796ENST00000506869D6RBA0
ENSG00000157796ENST00000507228H0Y8K9
ENSG00000157796ENST00000509560D6RE75
ENSG00000157796ENST00000512112D6RAI4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
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
bone marrow

References

Pubmed IDYearTitleCitations
220192732011Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.88
235594092013Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.82
236830952013WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.20
245047302014Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.11
183165612008WDR19 expression is increased in prostate cancer compared with normal cells, but low-intensity expression in cancers is associated with shorter time to biochemical failures and local recurrence.8
129068582003Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.7
257260362015Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.2
286210102017Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.0

Citation

Dessen P

WDR19 (WD repeat domain 19)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50153/wdr19