FRMD4A

Chr 10p13

FERM domain containing 4A

Aliases:: FLJ10210, KIAA1294, bA295P9.4
MANE:: ENST00000357447.7

OMIM: 616305 ↗NCBI: 55691 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

FRMD4A · Q9P2Q2

v62025-08-01

Predicted Aligned Error matrix for FRMD4A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.7/ 100

Low

1,039 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)13%
Low(50–70)8%
Very low(< 50)49%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
0.58
neurodegenerative disease
0.49
alcohol drinking
0.47
restless legs syndrome
0.40
systemic lupus erythematosus
0.36
idiopathic osteonecrosis of the femoral head
0.36
response to steroid
0.36
Abnormality of the skeletal system
0.35
facial pain
0.33
atrial fibrillation
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

FERM domain-containing protein 4A

Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754)