WDR35 (WD repeat domain 35)

2016-12-01  

Identity

HGNC
LOCATION
2p24.1
LOCUSID
ALIAS
CED2,FAP118,IFT121,IFTA1,SRTD7
FUSION GENES

Other Information

Locus ID:

NCBI: 57539
MIM: 613602
HGNC: 29250
Ensembl: ENSG00000118965

Variants:

dbSNP: 57539
ClinVar: 57539
TCGA: ENSG00000118965
COSMIC: WDR35

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118965ENST00000281405Q9P2L0
ENSG00000118965ENST00000345530Q9P2L0
ENSG00000118965ENST00000414212F8WB94
ENSG00000118965ENST00000445063H7BZK8
ENSG00000118965ENST00000453014H0Y6C0

Expression (GTEx)

0
5
10
15
20
25

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
330097022021Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.2
334213372021Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.5
336109172021WDR35 is involved in subcellular localization of acetylated tubulin in 293T cells.1
330097022021Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population.2
334213372021Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.5
336109172021WDR35 is involved in subcellular localization of acetylated tubulin in 293T cells.1
328044272020Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.4
328044272020Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.4
305701842019RagA, an mTORC1 activator, interacts with a hedgehog signaling protein, WDR35/IFT121.4
307906522019Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.0
305701842019RagA, an mTORC1 activator, interacts with a hedgehog signaling protein, WDR35/IFT121.4
307906522019Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.0
291347812018Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.4
291740892018Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.6
291347812018Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.4

Citation

Dessen P

WDR35 (WD repeat domain 35)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56670/wdr35-(wd-repeat-domain-35)