WNT9A
Wingless-Type MMTV Integration Site Family, Member 9A
Gene Information Card
| Symbol | WNT9A |
|---|---|
| Full Name | Wingless-Type MMTV Integration Site Family, Member 9A |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 7483 ncbi.nlm.nih.gov/gene/7483 |
| Ensembl ID | ENSG00000143816 |
| UniProt ID | O14904 |
| OMIM ID | 602268 |
| HGNC ID | 12778 |
| Aliases | WNT14, MGC138313, MGC138315 |
Description
WNT9A is a member of the WNT gene family, which encodes secreted signaling proteins involved in developmental processes such as cell fate determination, proliferation, and migration. WNT9A specifically plays a critical role in kidney and skeletal development, as well as in the regulation of the canonical and non-canonical WNT signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital anomalies of kidney and urinary tract (CAKUT) | Loss-of-function mutations in WNT9A disrupt ureteric bud branching and nephron formation during kidney development. | ClinVar, OMIM |
| Skeletal dysplasia | WNT9A mutations impair chondrogenesis and joint formation, leading to limb malformations. | OMIM, NCBI Gene |
| Müllerian duct anomalies | WNT9A signaling is essential for female reproductive tract development; mutations cause uterine and fallopian tube defects. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 5.2 nTPM | Medium |
| Uterus | 3.8 nTPM | Low |
| Ovary | 2.1 nTPM | Low |
| Bone marrow | 1.5 nTPM | Low |
| Lung | 0.9 nTPM | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.7 nTPM | Embryonic kidney cell line |
| HepG2 | 1.2 nTPM | Hepatocellular carcinoma |
| K562 | 0.3 nTPM | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.01% | Loss of function; associated with CAKUT |
| c.256G>A (p.Gly86Arg) | Missense | <0.01% | Likely loss of function; skeletal dysplasia |
| c.412_413del (p.Leu138fs) | Frameshift | <0.01% | Loss of function; Müllerian duct anomalies |
Mutation functional classification
Loss of Function (LOF)
Most reported WNT9A mutations are loss-of-function, leading to reduced or absent WNT signaling, particularly in kidney and reproductive tract development.
Gain of Function (GOF)
No gain-of-function mutations have been reported in WNT9A.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for WNT9A.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • cell-cell signaling |
| • extracellular space | • calcium ion binding |
| • receptor ligand activity |
Pathways
• Canonical WNT signaling
• Non-canonical WNT signaling
• WNT-mediated kidney development
Protein Summary
WNT9A is a secreted glycoprotein of approximately 40 kDa that binds to Frizzled receptors and LRP5/6 co-receptors to activate downstream signaling cascades. It is essential for embryonic development, particularly in the formation of the kidney, skeleton, and female reproductive tract. The protein contains a conserved WNT domain with 24 cysteine residues involved in disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT9A Knockout HEK293 Cell Line | EDJ-KQ358 | Human | 7483 | Details Get a Quote |
| WNT9A Knockout HeLa Cell Line | EDJ-KQ17977 | Human | 7483 | Details Get a Quote |
| WNT9A Knockout A-549 Cell Line | EDJ-KQ18542 | Human | 7483 | Details Get a Quote |
| WNT9A Knockout HCT 116 Cell Line | EDJ-KQ18543 | Human | 7483 | Details Get a Quote |
