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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FRMPD2
FERM and PDZ domain containing 2
Chromosome 10 · 10q11.22
NCBI Gene: 143162Ensembl: ENSG00000170324.21HGNC: HGNC:28572UniProt: B4E1N9
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein binding1-phosphatidylinositol bindingbicellular tight junction assemblybicellular tight junctionmyopiarefractive errorCrohn's diseaseinflammatory bowel disease
✦AI Summary

FRMPD2 is a multi-domain scaffold protein that functions in synaptic signaling and epithelial cell organization. Structurally, it contains an N-terminal KIND domain, a FERM domain that binds phosphatidylinositol 3,4-bisphosphate, and three PDZ domains 1. At synapses, FRMPD2's second PDZ domain specifically binds the C-terminus of NMDA receptor subunits GluN2A and GluN2B, with stronger affinity for GluN2A, implicating it in NMDA receptor-mediated synaptic signaling and potential neurotoxicity 2. In epithelial cells, FRMPD2 localizes to basolateral membranes in an E-cadherin-dependent manner and is essential for tight junction formation 1. FRMPD2 also regulates immune responses by spatially organizing NOD2 signaling complexes at the basolateral compartment of intestinal epithelial cells; notably, Crohn disease-associated truncations of NOD2 impair FRMPD2 interaction 3. Recent evidence suggests FRMPD2 contributes to human brain evolution, with the FRMPD2B paralog implicated in altered synapse signaling in humanized zebrafish models 4. Additionally, FRMPD2 is a key developmental marker for cone photoreceptor cell differentiation 5. These diverse functions underscore FRMPD2's role as a critical spatial organizer of protein complexes in neuronal and epithelial contexts.

Sources cited
1
FRMPD2 localizes to basolateral membranes, FERM domain binds phosphatidylinositols, required for tight junction formation
PMID: 19706687
2
FRMPD2 PDZ2 domain binds GluN2A and GluN2B subunits of NMDA receptors at postsynaptic membranes
PMID: 31196628
3
FRMPD2 spatially assembles NOD2 signaling complex at basolateral membrane, impaired by Crohn disease-associated NOD2 truncations
PMID: 23213202
4
FRMPD2B paralog implicated in altered synapse signaling and human brain evolution
PMID: 40695280
5
FRMPD2 is a key gene marker for cone cell development in fetal retina
PMID: 40531615
Disease Associationsⓘ20
myopiaOpen Targets
0.43Moderate
refractive errorOpen Targets
0.38Weak
Crohn's diseaseOpen Targets
0.33Weak
inflammatory bowel diseaseOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.32Weak
Abnormality of refractionOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
Retinal hemorrhageOpen Targets
0.26Weak
alopecia areataOpen Targets
0.23Weak
response to antihypertensive drugOpen Targets
0.13Weak
response to xenobiotic stimulusOpen Targets
0.05Suggestive
poisoningOpen Targets
0.05Suggestive
muscle crampOpen Targets
0.04Suggestive
synovial sarcomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
Global developmental delayOpen Targets
0.00Suggestive
microcephalyOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OCEL1Shared pathway100%PTPN20Protein interaction95%PKP4Protein interaction80%ARVCFProtein interaction76%CTNND2Protein interaction71%MPP7Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
9%
Lung
8%
Bone Marrow
4%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
FRMPD2OCEL1PTPN20PKP4ARVCFCTNND2MPP7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68DX3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.64–0.95]
RankingsWhere FRMPD2 stands among ~20K protein-coding genes
  • #15,563of 20,598
    Most Researched15
  • #8,838of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedFRMPD2
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Human-specific gene expansions contribute to brain evolution.
PMID: 40695280
Cell · 2025
1.00
2
RNAi screening identifies mediators of NOD2 signaling: implications for spatial specificity of MDP recognition.
PMID: 23213202
Proc Natl Acad Sci U S A · 2012
0.86
3
Machine Learning Identifies Key Gene Markers Related to Fetal Retina Development at Single-Cell Transcription Level.
PMID: 40531615
Invest Ophthalmol Vis Sci · 2025
0.71
4
Gene expression-based biomarkers for discriminating early and late stage of clear cell renal cancer.
PMID: 28349958
Sci Rep · 2017
0.57
5
Interaction between very-KIND Ras guanine exchange factor and microtubule-associated protein 2, and its role in dendrite growth--structure and function of the second kinase noncatalytic C-lobe domain.
PMID: 21385318
FEBS J · 2011
0.43