WDR19 (WD repeat domain 19)

2008-05-01  

Identity

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

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

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

References

Pubmed IDYearTitleCitations
368332182023Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.0
377831162023Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.0
368332182023Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.0
377831162023Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.0
335173962021Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.13
335173962021Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.13
323231212020A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.21
323231212020A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.21
286210102017Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.4
286210102017Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.4
257260362015Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.9
257260362015Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.9
245047302014Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.17
245047302014Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.17
235594092013Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.125

Citation

Dessen P

WDR19 (WD repeat domain 19)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

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