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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FRMD4B
FERM domain containing 4B
Chromosome 3 · 3p14.1
NCBI Gene: 23150Ensembl: ENSG00000114541.16HGNC: HGNC:24886UniProt: B3KNA2
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615bicellular tight junctionadherens junctioncytoskeletonatrial fibrillationatrial flutterendocrine neoplasmpregnancy disorder
✦AI Summary

FRMD4B encodes a FERM domain-containing protein that functions as a scaffolding protein in cellular signaling and membrane organization. The protein is a member of GRP1 signaling complexes recruited to plasma membrane ruffles in response to insulin receptor signaling and may regulate epithelial cell polarity by connecting ARF6 activation with the PAR3 complex, playing a redundant role with FRMD4A in epithelial polarization. Recent functional studies have identified FRMD4B as a novel candidate gene for ocular congenital cranial dysinnervation disorders, with zebrafish knockout models demonstrating its contribution to cranial motor development 1. Disease association studies have revealed significant genetic variants within FRMD4B linked to multiple conditions. The intronic variant rs6787362 shows replicated association with advanced heart failure, particularly ischemic cardiomyopathy, in Caucasian populations, with the minor allele providing protective effects 23. Additionally, FRMD4B variants have been associated with celiac disease susceptibility 4 and glucocorticoid sensitivity in B-cell precursor acute lymphoblastic leukemia cells 5. The gene has also been identified as a transcriptomic biomarker for distinguishing benign from malignant melanocytic neoplasms 6, highlighting its diverse roles in cellular function and disease pathogenesis.

Sources cited
1
FRMD4B identified as novel candidate gene for ocular congenital cranial dysinnervation disorders through zebrafish screening
PMID: 40162949
2
Intronic variant rs6787362 in FRMD4B associated with advanced heart failure in replicated case-control study
PMID: 20124441
3
rs6787362 FRMD4B variant associated with increased risk of ischemic cardiomyopathy in Caucasians
PMID: 20718813
4
FRMD4B confirmed as celiac disease susceptibility locus in North American genome-wide association study
PMID: 24999842
5
FRMD4B variant rs904419 associated with glucocorticoid sensitivity in B-cell precursor acute lymphoblastic leukemia cells
PMID: 33002292
6
FRMD4B identified as part of transcriptomic biomarker panel for distinguishing benign from malignant melanocytic neoplasms
PMID: 41042798
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.51Moderate
atrial flutterOpen Targets
0.40Weak
endocrine neoplasmOpen Targets
0.34Weak
pregnancy disorderOpen Targets
0.33Weak
gastrointestinal diseaseOpen Targets
0.29Weak
intracranial hemorrhageOpen Targets
0.28Weak
celiac diseaseOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.27Weak
benign chondrogenic neoplasmOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.25Weak
insomniaOpen Targets
0.25Weak
thrombophiliaOpen Targets
0.25Weak
retinal degenerationOpen Targets
0.19Weak
type 1 diabetes mellitusOpen Targets
0.18Weak
parasitic infectionOpen Targets
0.18Weak
ankylosing spondylitisOpen Targets
0.15Weak
schizophreniaOpen Targets
0.15Weak
Tietz syndromeOpen Targets
0.06Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
deaf blind hypopigmentation syndrome, Yemenite typeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CYTH3Protein interaction64%CYTH1Protein interaction64%FRMD4AShared pathway33%FBF1Shared pathway33%SIPA1L3Shared pathway20%PHOX2ACo-mentioned in literature20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
50%
Liver
46%
Brain
39%
Heart
35%
Ovary
17%
Gene Interaction Network
Click a node to explore
FRMD4BCYTH3CYTH1FRMD4AFBF1SIPA1L3PHOX2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6PEW6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.46 [0.34–0.64]
RankingsWhere FRMD4B stands among ~20K protein-coding genes
  • #13,664of 20,598
    Most Researched22
  • #4,544of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedFRMD4B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
PMID: 40162949
Invest Ophthalmol Vis Sci · 2025
1.00
2
Towards a transcriptomic biomarker for the classification of melanocytic neoplasms.
PMID: 41042798
PLoS Genet · 2025
0.90
3
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
PMID: 39314366
bioRxiv · 2024
0.80
4
Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
PMID: 20718813
Clin Transl Sci · 2010
0.70
5
Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells.
PMID: 33002292
J Cell Mol Med · 2020
0.60