DAAM2: Dishevelled Associated Activator of Morphogenesis 2
Key regulator of Wnt/planar cell polarity signaling and cytoskeletal dynamics
Gene Information Card
| Symbol | DAAM2 |
|---|---|
| Full Name | Dishevelled Associated Activator of Morphogenesis 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 23500 ncbi.nlm.nih.gov/gene/23500 |
| Ensembl ID | ENSG00000146197 |
| UniProt ID | Q86T65 |
| OMIM ID | 606627 |
| HGNC ID | 18143 |
| Aliases | KIAA0381, dJ90G24.4 |
Description
DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a member of the formin protein family that acts as a downstream effector of Wnt/planar cell polarity (PCP) signaling. It binds to Dishevelled and promotes actin polymerization and cytoskeletal reorganization, playing critical roles in cell polarity, migration, and tissue morphogenesis. DAAM2 is involved in kidney podocyte development and has been implicated in nephrotic syndrome and focal segmental glomerulosclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 24 | Loss-of-function mutations in DAAM2 disrupt podocyte actin cytoskeleton and slit diaphragm integrity | OMIM: 619263; ClinVar |
| Focal segmental glomerulosclerosis | DAAM2 variants impair glomerular filtration barrier function | ClinVar; PubMed studies |
| Schizophrenia (possible association) | DAAM2 polymorphisms may affect Wnt/PCP signaling in neural development | GWAS catalog; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| A549 | 7.4 | Lung carcinoma cell line |
| HepG2 | 3.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1585C>T (p.Arg529*) | Nonsense | Rare | Loss of function; truncation of FH2 domain |
| c.2023G>A (p.Gly675Arg) | Missense | Rare | Likely loss of function; disrupts actin binding |
| c.2740C>T (p.Arg914Trp) | Missense | Rare | Uncertain significance; reported in nephrotic syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the FH2 domain or disrupt actin polymerization activity; associated with nephrotic syndrome.
Gain of Function (GOF)
Not reported in DAAM2.
Dominant Negative (DN)
Possible for missense mutations that retain dimerization but impair actin nucleation; not well characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt/planar cell polarity (PCP) signaling
• Formin-mediated actin nucleation
• Podocyte differentiation and maintenance
Protein Summary
DAAM2 encodes a 1,068-amino acid formin protein containing an N-terminal GTPase-binding domain (GBD), a diaphanous inhibitory domain (DID), a dimerization domain (DD), a coiled-coil region, and a formin homology 2 (FH2) domain that nucleates unbranched actin filaments. It also has a formin homology 1 (FH1) domain that binds profilin. DAAM2 localizes to the cytoplasm and cell cortex, and upon Wnt signaling, it is recruited by Dishevelled to promote actin polymerization and cytoskeletal remodeling. In the kidney, DAAM2 is essential for podocyte foot process formation and maintenance of the glomerular filtration barrier.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAAM2 Knockout HEK293 Cell Line | EDJ-KQ293 | Human | 23500 | Details Get a Quote |
| DAAM2 Knockout HeLa Cell Line | EDJ-KQ55753 | Human | 23500 | Details Get a Quote |
| DAAM2 Knockout A-549 Cell Line | EDJ-KQ64251 | Human | 23500 | Details Get a Quote |
| DAAM2 Knockout HCT 116 Cell Line | EDJ-KQ72697 | Human | 23500 | Details Get a Quote |
