WDR81: WD Repeat Domain 81
A gene encoding a protein involved in endosomal trafficking and autophagy, associated with neurological disorders and cancer.
Gene Information Card
| Symbol | WDR81 |
|---|---|
| Full Name | WD Repeat Domain 81 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 124997 ncbi.nlm.nih.gov/gene/124997 |
| Ensembl ID | ENSG00000108231 |
| UniProt ID | Q562E7 |
| OMIM ID | 614253 |
| HGNC ID | 25600 |
| Aliases | C17orf36, DKFZp686B2420, FLJ32921 |
Description
WDR81 (WD Repeat Domain 81) encodes a protein containing multiple WD40 repeats, which are involved in protein-protein interactions. The protein localizes to endosomes and plays a role in endosomal trafficking and autophagy. Mutations in WDR81 are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ2). Altered expression has been reported in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) | Loss-of-function mutations impair endosomal trafficking and autophagy, leading to neuronal dysfunction. | OMIM #614253; ClinVar |
| Autosomal recessive cerebellar ataxia | Homozygous or compound heterozygous mutations in WDR81 disrupt protein function. | OMIM #614253; NCBI Gene |
| Cancer (various types) | Altered WDR81 expression may affect autophagy and tumor progression; somatic mutations reported in COSMIC. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Kidney | 2.1 | Low |
| Liver | 1.5 | Low |
| Lung | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.0 | Low expression |
| SH-SY5Y | 6.1 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare | Loss of function; associated with CAMRQ2 |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging; reported in cerebellar ataxia |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent protein, impairing endosomal trafficking and autophagy.
Gain of Function (GOF)
Not reported for WDR81.
Dominant Negative (DN)
Not reported for WDR81.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • endosome (GO:0005768) |
| • autophagy (GO:0006914) | • endosomal transport (GO:0016197) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Autophagy (Reactome: R-HSA-9612973)
• Endosomal trafficking (Reactome: R-HSA-199991)
Protein Summary
The WDR81 protein (UniProt Q562E7) contains WD40 repeats that mediate protein interactions. It localizes to early endosomes and is involved in endosomal trafficking and autophagy. Loss of function leads to impaired clearance of cellular debris and neuronal dysfunction, underlying cerebellar ataxia and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR81 Knockout HEK293 Cell Line | EDJ-KQ8697 | Human | 124997 | Details Get a Quote |
| WDR81 Knockout A-549 Cell Line | EDJ-KQ33640 | Human | 124997 | Details Get a Quote |
| WDR81 Knockout HCT 116 Cell Line | EDJ-KQ34913 | Human | 124997 | Details Get a Quote |
| WDR81 Knockout HeLa Cell Line | EDJ-KQ34914 | Human | 124997 | Details Get a Quote |
