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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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FRMD4A
FERM domain containing 4A
Chromosome 10 Β· 10p13
NCBI Gene: 55691Ensembl: ENSG00000151474.23HGNC: HGNC:25491UniProt: Q9NW91
41PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmpositive regulation of protein secretionadherens junctionbicellular tight junctionsevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeneurodegenerative diseasealcohol drinkingrestless legs syndrome
✦AI Summary

FRMD4A (FERM domain containing 4A) is a scaffolding protein that plays critical roles in epithelial cell polarity regulation and protein secretion. The protein regulates tau (MAPT) secretion through cytohesin-Arf6 signaling pathways, where FRMD4A overexpression increases tau secretion while depletion reduces it 1. FRMD4A functions in epithelial polarization by connecting ARF6 activation with cell polarity complexes, working redundantly with FRMD4B 1. In disease contexts, FRMD4A exhibits oncogenic properties in squamous cell carcinomas, where upregulation correlates with tumor growth, metastasis, and poor prognosis 2. FRMD4A silencing in cancer cells reduces proliferation, increases apoptosis, and causes nuclear YAP accumulation, suggesting involvement in Hippo signaling 2. The gene also serves as a tumor marker in sarcomatoid clear cell renal carcinoma 3. Clinically, FRMD4A mutations cause neurodevelopmental disorders including corpus callosum agenesis, cerebellar ataxia, and intellectual disability 4. Additionally, FRMD4A variants are associated with congenital microcephaly 5 and smoking behavior traits 6. The protein's dual roles in normal cellular function and disease pathogenesis make it both a developmental regulator and potential therapeutic target.

Sources cited
1
FRMD4A regulates tau secretion through cytohesin-Arf6 signaling and plays a role in epithelial cell polarity
PMID: 27044754
2
FRMD4A upregulation in squamous cell carcinoma promotes tumor growth and metastasis, correlates with poor prognosis
PMID: 22564525
3
FRMD4A mutations cause corpus callosum anomaly, ataxia, and global developmental delay
PMID: 34869127
4
FRMD4A variants are associated with congenital microcephaly
PMID: 30214071
5
FRMD4A genetic variants influence smoking behavior and nicotine dependence
PMID: 22006218
6
FRMD4A serves as a tumor marker in sarcomatoid clear cell renal carcinoma
PMID: 41082386
Disease Associationsβ“˜21
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.47Moderate
restless legs syndromeOpen Targets
0.41Moderate
idiopathic osteonecrosis of the femoral headOpen Targets
0.39Weak
systemic lupus erythematosusOpen Targets
0.39Weak
response to steroidOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.37Weak
atrial fibrillationOpen Targets
0.36Weak
COVID-19Open Targets
0.33Weak
facial painOpen Targets
0.32Weak
enteritisOpen Targets
0.30Weak
basal cell carcinomaOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
glomerulonephritisOpen Targets
0.30Weak
poisoningOpen Targets
0.29Weak
type 1 diabetes mellitusOpen Targets
0.28Weak
Sjogren syndromeOpen Targets
0.28Weak
vascular diseaseOpen Targets
0.27Weak
open-angle glaucomaOpen Targets
0.26Weak
Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxiaUniProt
Pathogenic Variants3
NM_018027.5(FRMD4A):c.110A>G (p.Gln37Arg)Likely pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 37
NM_018027.5(FRMD4A):c.3078delinsCATTCT (p.Asp1027fs)Likely pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1027
NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)Pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 716
View on ClinVar β†—
Related Genes
CYTH4Protein interaction72%CYTH1Protein interaction64%APBB3Shared pathway33%SERGEFShared pathway33%FRMD4BShared pathway33%DPH3Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
88%
Lung
65%
Liver
57%
Bone Marrow
44%
Ovary
35%
Gene Interaction Network
Click a node to explore
FRMD4ACYTH4CYTH1APBB3SERGEFFRMD4BDPH3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NW91
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.20–0.46]
RankingsWhere FRMD4A stands among ~20K protein-coding genes
  • #10,007of 20,598
    Most Researched41
  • #4,083of 5,498
    Most Pathogenic Variants3
  • #2,564of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedFRMD4A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genomic and phenotypic delineation of congenital microcephaly.
PMID: 30214071
Genet Med Β· 2019
1.00
2
p53 induces circFRMD4A to suppress cancer development through glycolytic reprogramming and cuproptosis.
PMID: 39637854
Mol Cell Β· 2025
0.90
3
FRMD4A upregulation in human squamous cell carcinoma promotes tumor growth and metastasis and is associated with poor prognosis.
PMID: 22564525
Cancer Res Β· 2012
0.80
4
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
PMID: 22006218
Hum Genet Β· 2012
0.70
5
Case Report: A Novel Compound Heterozygous Mutation of the
PMID: 34869127
Front Pediatr Β· 2021
0.60