WTIP: Wilms Tumor Interacting Protein Gene
A key regulator in kidney development and podocyte function
Gene Information Card
| Symbol | WTIP |
|---|---|
| Full Name | Wilms Tumor Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 126374 ncbi.nlm.nih.gov/gene/126374 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q9BRX9 |
| OMIM ID | 614664 |
| HGNC ID | 24987 |
| Aliases | WT1-interacting protein, FANCI, FANCI-like protein |
Description
WTIP encodes a protein that interacts with the Wilms tumor suppressor WT1. It is involved in transcriptional regulation, cell differentiation, and maintenance of podocyte structure in the kidney. WTIP is essential for normal kidney development and function, and its dysregulation is linked to nephrotic syndromes and Wilms tumor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 2 | Loss of podocyte integrity due to WTIP dysfunction | OMIM #614664 |
| Wilms tumor | Altered WT1-WTIP interaction may contribute to tumorigenesis | COSMIC, NCBI Gene |
| Focal segmental glomerulosclerosis | Podocyte injury and cytoskeletal disruption | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain | 5.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| Podocytes (differentiated) | 18.6 | High expression in mature podocytes |
| A549 | 6.4 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.632G>A (p.Arg211Gln) | Missense | <0.01% | Altered WT1 binding |
| c.1045_1046del (p.Leu349fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, impairing podocyte function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with WT1 interaction, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• WT1 signaling pathway
• Podocyte differentiation and maintenance
• Actin cytoskeleton regulation
Protein Summary
WTIP is a 366-amino acid protein that localizes to the nucleus and cytoplasm. It contains a LIM domain and interacts with WT1 to regulate gene expression. In podocytes, WTIP modulates actin dynamics and cell adhesion. Its expression is critical for kidney filtration barrier integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WTIP Knockout HEK293 Cell Line | EDJ-KQ1362 | Human | 126374 | Details Get a Quote |
| WTIP Knockout A-549 Cell Line | EDJ-KQ20851 | Human | 126374 | Details Get a Quote |
| WTIP Knockout HCT 116 Cell Line | EDJ-KQ20852 | Human | 126374 | Details Get a Quote |
| WTIP Knockout HeLa Cell Line | EDJ-KQ20853 | Human | 126374 | Details Get a Quote |
