RHOA Chromosome 3
Ras homolog family member A
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What This Gene Does
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Rho family GTPases
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000067560
Associated Conditions (7)
Ectodermal dysplasia with facial dysmorphism and acral
ocular
and brain anomalies
EBV-positive nodal T- and NK-cell lymphoma
Neoplasm
neuro-ectodermal phenotype
Hemihypertrophy
Key Variants
RS1333410252
Likely pathogenic
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Health Risk
RS11552761
Pathogenic
EBV-positive nodal T- and NK-cell lymphoma, Neoplasm, EBV-positive nodal T- and NK-cell lymphoma
Health Risk
RS1575647025
Pathogenic
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Health Risk
RS1575653629
Pathogenic
neuro-ectodermal phenotype, Ectodermal dysplasia with facial dysmorphism and acral, ocular
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1333410252 | Health Risk | Likely pathogenic | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies |
| RS11552761 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, Neoplasm, EBV-positive nodal T- and NK-cell lymphoma |
| RS1575647025 | Health Risk | Pathogenic | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies |
| RS1575653629 | Health Risk | Pathogenic | neuro-ectodermal phenotype, Ectodermal dysplasia with facial dysmorphism and acral, ocular |