WSCD2
WSC Domain Containing 2
Gene Information Card
| Symbol | WSCD2 |
|---|---|
| Full Name | WSC Domain Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9BQY4 |
| OMIM ID | 617827 |
| HGNC ID | 29162 |
| Aliases | FLJ11273, MGC138290 |
Description
WSCD2 (WSC Domain Containing 2) is a protein-coding gene located on chromosome 12q24.31. The encoded protein contains a WSC domain, which is involved in carbohydrate binding and cell wall integrity sensing in yeast, though the precise function in humans remains under investigation. WSCD2 is expressed in various tissues and may play a role in cellular signaling or structural processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.567G>A (p.Trp189*) | nonsense | <0.001% (gnomAD) | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Trp189* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • carbohydrate binding (GO:0030246) |
Protein Summary
The WSCD2 protein (UniProt Q9BQY4) is 456 amino acids long and contains a single WSC domain. Its exact biological function is not fully characterized, but it may participate in protein-carbohydrate interactions. The protein is predicted to be cytoplasmic or membrane-associated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WSCD2 Knockout HEK293 Cell Line | EDJ-KQ6687 | Human | 9671 | Details Get a Quote |
| WSCD2 Knockout HeLa Cell Line | EDJ-KQ55223 | Human | 9671 | Details Get a Quote |
| WSCD2 Knockout A-549 Cell Line | EDJ-KQ63704 | Human | 9671 | Details Get a Quote |
| WSCD2 Knockout HCT 116 Cell Line | EDJ-KQ72166 | Human | 9671 | Details Get a Quote |
