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FRMD4A
FERM domain containing 4A
FRMD4A is located on the short (p) arm of chromosome 10, at band 10p13. Arm ratio per GRCh38 - banding schematic.
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Overview
FRMD4A is a human gene located on chromosome 10 that encodes a member of the FERM domain-containing protein family. FERM domains are structural modules found in many proteins that help organise the cell membrane and link it to the underlying cytoskeleton, playing roles in cell shape, signalling, and movement.
The specific functions of the FRMD4A protein in human cells are not yet fully characterised, and the gene is not currently associated with well-defined inherited conditions. Research into FRMD4A continues to explore its role in cellular processes and potential contributions to human health and disease.
What the gene does
The FRMD4A protein is predicted to contain a FERM domain, a conserved structural unit that typically mediates interactions between membrane proteins and the actin cytoskeleton. FERM domains generally recognise specific lipid components of cell membranes and bind to the cytoplasmic tails of transmembrane receptors, helping to organise signalling complexes at the cell surface.
While the precise cellular functions of FRMD4A have not been extensively documented, proteins with FERM domains are known to participate in diverse processes including cell adhesion, migration, and the regulation of signalling pathways. The FRMD4A protein may contribute to maintaining cell polarity or coordinating responses to external signals, though further research is needed to define its specific molecular partners and physiological roles in human tissues.
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Chromosome location
FRMD4A is located on the short arm of chromosome 10 at position p13 (cytogenetic band 10p13). The genomic structure of FRMD4A, including the number and arrangement of exons, has not been comprehensively detailed in current reference databases. The chromosomal region 10p13 contains several genes, and the local genomic architecture may influence FRMD4A expression and regulation.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. While FRMD4A is annotated as containing a FERM domain based on sequence homology, comprehensive structural studies defining the boundaries, folding, and functional contributions of specific regions within the protein have not been published. Further biochemical and structural work would be needed to map the protein's domain organisation and identify any additional functional motifs.
Key variants
Genetic variants in FRMD4A have been catalogued in population databases and variant repositories, though the clinical significance of most changes remains uncertain. Because the gene's role in human disease is not well established, interpreting individual variants can be challenging. Most variants identified in FRMD4A to date are classified as variants of uncertain significance, meaning there is insufficient evidence to determine whether they affect protein function or contribute to health conditions.
Sample of pathogenic variants
1 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.2134_2146dup | p.Gly716fs | Pathogenic | - | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
FRMD4A is not currently linked to specific inherited diseases or clinical syndromes in medical genetics literature. The gene does not appear on NHS Genomic Medicine Service gene panels for carrier screening or cancer predisposition testing, reflecting the absence of established disease associations. As research into the gene's function progresses, future studies may identify roles in human health or disease susceptibility.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the FRMD4A gene do?
FRMD4A encodes a protein predicted to contain a FERM domain, which typically helps organise cell membranes and link them to the internal cytoskeleton. The specific functions of FRMD4A in human cells are still being researched.
Is FRMD4A testing available on the NHS?
FRMD4A is not currently included in NHS Genomic Medicine Service gene panels, as the gene is not associated with recognised inherited conditions that meet criteria for clinical screening or testing.
Are variants in FRMD4A linked to disease?
At present, FRMD4A variants have not been definitively linked to specific inherited diseases. Most identified variants are classified as of uncertain significance, meaning their clinical relevance is unclear.