SHROOM2
Shroom Family Member 2 – Regulator of Actin Cytoskeleton and Cell Morphology
Gene Information Card
| Symbol | SHROOM2 |
|---|---|
| Full Name | Shroom Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 357 ncbi.nlm.nih.gov/gene/357 |
| Ensembl ID | ENSG00000198815 |
| UniProt ID | Q9UQ05 |
| OMIM ID | 300103 |
| HGNC ID | 10823 |
| Aliases | APXL, KIAA1831, Shroom2 |
Description
SHROOM2 (Shroom Family Member 2) encodes a protein that belongs to the Shroom family, which is characterized by an ASD2 (Apx/Shroom Domain 2) motif. The protein is involved in regulating the actin cytoskeleton and cell morphology, particularly in epithelial cells. It plays a role in the formation of adherens junctions and the maintenance of cell shape. SHROOM2 is also implicated in the development of the eye and neural tube.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alport syndrome | Mutations in SHROOM2 may contribute to the ocular manifestations of Alport syndrome, though the primary cause is mutations in COL4A5. SHROOM2 interacts with the collagen IV network to maintain basement membrane integrity. | Limited evidence from case reports and functional studies. |
| X-linked intellectual disability | Rare variants in SHROOM2 have been identified in patients with intellectual disability, suggesting a role in neuronal development. | Association from exome sequencing studies. |
| Retinitis pigmentosa | SHROOM2 expression in retinal pigment epithelium suggests a potential role in retinal degeneration, but direct causal evidence is lacking. | Hypothetical based on expression data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Eye | 8.1 | Medium |
| Lung | 3.4 | Low |
| Kidney | 6.7 | Medium |
| Testis | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.8 | Moderate expression |
| HeLa | 5.1 | Low expression |
| ARPE-19 | 9.3 | High expression in retinal pigment epithelium |
| SH-SY5Y | 6.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Altered protein localization and reduced actin-binding affinity |
| c.567delG (p.Gly190Valfs*12) | Frameshift deletion | Rare | Loss of function due to premature truncation |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Impaired interaction with actin regulators |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that lead to truncated protein lacking the ASD2 domain, resulting in loss of actin-binding and cell morphology regulation.
Gain of Function (GOF)
Not reported for SHROOM2.
Dominant Negative (DN)
Missense mutations in the ASD2 domain may interfere with wild-type protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cell morphogenesis |
| • adherens junction organization | • cytoskeleton organization |
| • eye development | • neural tube closure |
Pathways
• Actin cytoskeleton regulation
• Cell junction organization
• Epithelial cell differentiation
Protein Summary
SHROOM2 is a 1,486-amino acid protein containing an N-terminal PDZ domain and a C-terminal ASD2 domain. It localizes to the apical junctional complex in epithelial cells and binds to F-actin, regulating the contractility of the actomyosin network. The protein is essential for the proper formation of adherens junctions and the maintenance of epithelial barrier function. In the eye, SHROOM2 is expressed in the retinal pigment epithelium and lens, contributing to ocular development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHROOM2 Knockout HEK293 Cell Line | EDJ-KQ4080 | Human | 357 | Details Get a Quote |
| SHROOM2 Knockout HCT 116 Cell Line | EDJ-KQ25120 | Human | 357 | Details Get a Quote |
| SHROOM2 Knockout HeLa Cell Line | EDJ-KQ52643 | Human | 357 | Details Get a Quote |
| SHROOM2 Knockout A-549 Cell Line | EDJ-KQ61116 | Human | 357 | Details Get a Quote |
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