WNT9B
Wingless-Type MMTV Integration Site Family, Member 9B
Gene Information Card
| Symbol | WNT9B |
|---|---|
| Full Name | Wingless-Type MMTV Integration Site Family, Member 9B |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 7484 ncbi.nlm.nih.gov/gene/7484 |
| Ensembl ID | ENSG00000158955 |
| UniProt ID | O14905 |
| OMIM ID | 602864 |
| HGNC ID | 12764 |
| Aliases | WNT14B, WNT15 |
Description
WNT9B is a member of the WNT gene family, which encodes secreted signaling proteins involved in developmental processes, including cell fate determination, proliferation, and differentiation. WNT9B specifically plays a role in kidney development, limb formation, and reproductive tract development. Mutations in WNT9B are associated with congenital anomalies such as Mayer-Rokitansky-Küster-Hauser syndrome and renal agenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) | Loss-of-function mutations in WNT9B disrupt Müllerian duct development, leading to uterine and vaginal agenesis. | OMIM #602864; ClinVar |
| Renal agenesis/hypodysplasia | WNT9B signaling is critical for ureteric bud branching and nephron formation; mutations impair kidney development. | OMIM #602864; NCBI Gene |
| Congenital anomalies of the kidney and urinary tract (CAKUT) | WNT9B variants contribute to abnormal urinary tract morphogenesis. | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Uterus | 8.3 | Low |
| Ovary | 6.1 | Low |
| Testis | 5.4 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cell line |
| MCF7 | 2.1 | Breast cancer cell line |
| HeLa | 1.8 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.943C>T (p.Arg315*) | Nonsense | Rare | Premature stop, loss of function |
| c.1129G>A (p.Gly377Arg) | Missense | Rare | Impaired secretion and signaling |
Mutation functional classification
Loss of Function (LOF)
Most reported WNT9B mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein function, associated with developmental defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported in WNT9B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for WNT9B.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • cell-cell signaling |
| • extracellular space | • receptor ligand activity |
| • developmental process |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Non-canonical Wnt signaling
• Canonical Wnt signaling
Protein Summary
WNT9B is a secreted glycoprotein of approximately 40 kDa, belonging to the WNT family. It contains a conserved WNT domain and is involved in paracrine signaling. The protein undergoes post-translational palmitoylation, which is essential for its secretion and receptor binding. WNT9B primarily signals through the canonical β-catenin pathway and is critical for embryonic development of the kidney, reproductive tract, and limbs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT9B Knockout HEK293 Cell Line | EDJ-KQ359 | Human | 7484 | Details Get a Quote |
| WNT9B Knockout HeLa Cell Line | EDJ-KQ54757 | Human | 7484 | Details Get a Quote |
| WNT9B Knockout A-549 Cell Line | EDJ-KQ63252 | Human | 7484 | Details Get a Quote |
| WNT9B Knockout HCT 116 Cell Line | EDJ-KQ71715 | Human | 7484 | Details Get a Quote |
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