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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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WDR47
WD repeat domain 47
Chromosome 1 Β· 1p13.3
NCBI Gene: 22911Ensembl: ENSG00000085433.18HGNC: HGNC:29141UniProt: O94967
31PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complex bindingmicrotubulecytoplasmprotein bindingneurodegenerative diseaseNeurodevelopmental disorderNephropathynephritis
✦AI Summary

WDR47 is a microtubule-associated protein that plays critical roles in neuronal development, ciliary function, and cellular transport. The protein is essential for neuronal polarization, where it interacts with CAMSAP family proteins to stabilize microtubule minus ends and facilitate proper neurite remodeling during early neuronal development 1. WDR47 protects CAMSAP2-decorated microtubule minus ends from katanin-mediated severing, ensuring proper stabilization of the neuronal microtubule network 2. In ciliary biology, WDR47 coordinates with JHY and SPEF1 to maintain central pair microtubule stability in motile cilia, contributing to proper ciliary waveform regulation 3. The protein also regulates autophagy-related transport by negatively regulating RUSC2-mediated kinesin-1-dependent distribution of ATG9A vesicles to cell periphery 4. Clinically, bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome characterized by corpus callosum dysgenesis, microcephaly, and enlarged ventricles, with severity correlating to the degree of functional loss 5. WDR47 dysfunction impairs mitochondrial and microtubule homeostasis, leading to callosal neuron death. Additionally, WDR47 variants have been associated with cardiovascular laterality defects and identified as a potential therapeutic target in Alzheimer's disease 67.

Sources cited
1
WDR47 controls neuronal polarization through interactions with CAMSAP proteins and regulates microtubule dynamics
PMID: 32320668
2
WDR47 protects CAMSAP2-decorated microtubule minus ends from katanin-mediated severing
PMID: 34260930
3
WDR47 coordinates with JHY and SPEF1 to maintain central pair microtubule stability in motile cilia
PMID: 41372633
4
WDR47 negatively regulates RUSC2-mediated kinesin-1-dependent distribution of ATG9A vesicles
PMID: 34432492
5
Bi-allelic WDR47 variants cause neurodevelopmental syndrome with corpus callosum dysgenesis and other neuroanatomical malformations
PMID: 39609633
6
WDR47 variants identified in patients with cardiovascular laterality defects
PMID: 35474353
7
WDR47 identified as potential therapeutic target in Alzheimer's disease through network analysis
PMID: 33413749
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.48Moderate
Neurodevelopmental disorderOpen Targets
0.33Weak
nephritisOpen Targets
0.25Weak
NephropathyOpen Targets
0.25Weak
microcephalyOpen Targets
0.19Weak
epilepsyOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.19Weak
hypothyroidismOpen Targets
0.15Weak
complex neurodevelopmental disorderOpen Targets
0.12Weak
aortic valve stenosisOpen Targets
0.11Weak
hemoglobin D diseaseOpen Targets
0.03Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.03Suggestive
Dysplastic corpus callosumOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
mucous membrane pemphigoidOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
Situs inversus totalisOpen Targets
0.01Suggestive
Pathogenic Variants2
NM_001142551.2(WDR47):c.578G>A (p.Arg193His)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 193
NM_001142551.2(WDR47):c.1976A>C (p.His659Pro)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2023β†’ Residue 659
View on ClinVar β†—
Related Genes
CAMSAP3Protein interaction86%CAMSAP2Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
36%
Heart
22%
Ovary
13%
Lung
12%
Liver
5%
Gene Interaction Network
Click a node to explore
WDR47CAMSAP3CAMSAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O94967
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.33 [0.25–0.44]
RankingsWhere WDR47 stands among ~20K protein-coding genes
  • #11,831of 20,598
    Most Researched31
  • #4,514of 5,498
    Most Pathogenic Variants2
  • #2,413of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedWDR47
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
PMID: 34130600
Autophagy Β· 2022
1.00
2
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
PMID: 39609633
EMBO Mol Med Β· 2025
0.90
3
JHY enables the transition from switchable to fixed ciliary waveforms in metazoan evolution.
PMID: 41372633
EMBO Rep Β· 2026
0.80
4
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
PMID: 35474353
Eur J Hum Genet Β· 2022
0.70
5
Wdr47 Controls Neuronal Polarization through the Camsap Family Microtubule Minus-End-Binding Proteins.
PMID: 32320668
Cell Rep Β· 2020
0.60