WNT3A Gene: Wnt Family Member 3A

A key ligand in Wnt signaling pathways, involved in development, stem cell regulation, and cancer.

Gene Information Card

Symbol WNT3A
Full Name Wnt family member 3A
Gene Type protein-coding
Chromosomal Location 1q42.13
NCBI Gene ID 89780 ncbi.nlm.nih.gov/gene/89780
Ensembl ID ENSG00000154330
UniProt ID P56704
OMIM ID 606359
HGNC ID 15983
Aliases WNT3, protein Wnt-3a

Description

WNT3A (Wnt family member 3A) is a secreted glycoprotein that acts as a ligand in the Wnt signaling pathways, which are critical for embryonic development, cell proliferation, differentiation, and migration. It primarily activates the canonical Wnt/β-catenin pathway, leading to target gene transcription. WNT3A is involved in various biological processes, including axis formation, limb development, and stem cell maintenance. Dysregulation of WNT3A has been implicated in several cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Aberrant activation of Wnt/β-catenin signaling via WNT3A overexpression or mutations in downstream components. COSMIC, PubMed
Neural tube defects Altered WNT3A signaling during embryogenesis may disrupt neural tube closure. OMIM, PubMed
Skeletal abnormalities WNT3A mutations affecting limb development and bone formation. OMIM, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Bone marrow 12.4 Medium
Lung 8.2 Low
Kidney 6.1 Low
Brain 4.3 Low
Liver 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.3 High expression
MCF7 8.7 Moderate expression
HCT116 6.5 Low expression
A549 4.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.94C>T (p.Arg32Cys) Missense Rare May affect ligand-receptor interaction
c.346G>A (p.Val116Met) Missense Rare Potential impact on protein stability
c.511C>T (p.Arg171Trp) Missense Rare Altered signaling activity
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in WNT3A are rare and may impair Wnt signaling, potentially contributing to developmental defects.

Gain of Function (GOF)

Gain-of-function mutations are uncommon; overexpression or amplification of WNT3A can lead to constitutive pathway activation in cancer.

Dominant Negative (DN)

Dominant-negative mutations have not been well characterized for WNT3A; however, some missense variants may interfere with ligand function.

Pathways

Wnt signaling pathway (KEGG: hsa04310)
Hippo signaling pathway (KEGG: hsa04390)
Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
Basal cell carcinoma (KEGG: hsa05217)

Protein Summary

WNT3A is a 352-amino acid secreted glycoprotein with a signal peptide, a conserved Wnt domain, and multiple glycosylation sites. It undergoes post-translational palmitoylation, which is essential for its secretion and receptor binding. The protein binds to Frizzled receptors and LRP5/6 co-receptors, activating the canonical Wnt pathway. It plays a crucial role in embryogenesis and tissue homeostasis, and its dysregulation is linked to tumorigenesis.

Related Products

Product name Cat.No. Species Gene ID
WNT3A Knockout HEK293 Cell Line EDJ-KQ352 Human 89780 Details Get a Quote
WNT3A Knockout HCT 116 Cell Line EDJ-KQ18536 Human 89780 Details Get a Quote
WNT3A Knockout HeLa Cell Line EDJ-KQ57737 Human 89780 Details Get a Quote
WNT3A Knockout A-549 Cell Line EDJ-KQ66233 Human 89780 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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