WDR35 (WD repeat domain 35)

2016-12-01  

Identity

HGNC
WDR35
LOCATION
2p24.1
LOCUSID
57539
ALIAS
CED2,FAP118,IFT121,IFTA1,SRTD7
FUSION GENES
Show Gene Fusions

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
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
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
208171372010Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.117
214739862011Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.61
278062912016Role for the IFT-A Complex in Selective Transport to the Primary Cilium.28
259086172015Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.13
201936642010Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis.8
229878182012WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.8
224864042013Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).6
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.3
283327792017Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.2
288706382017Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.1

Citation

Dessen P

WDR35 (WD repeat domain 35)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56670/wdr35