2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylinositol-4,5-bisphosphate bindingphosphatidylinositol bindingendoplasmic reticulum-plasma membrane tetheringgoutresponse to xenobiotic stimulushypertensionAbnormality of the skeletal system
Based on limited published evidence, GRAMD2A is a constitutive tether protein that organizes endoplasmic reticulum-plasma membrane contact sites (EPCS) through phosphatidylinositol lipid-dependent mechanisms. GRAMD2A co-localizes with ESYT2/3 tethers and pre-marks PI(4,5)P2-enriched EPCS destined for store-operated calcium entry, facilitating STIM1 recruitment 1. As a GRAM domain protein, GRAMD2A functionally specializes distinct ER-PM domains and exhibits pleiotropic roles in calcium homeostasis and organelle dynamics 1. GRAMD2A ablation impairs STIM1 translocation at these specialized contact sites 2.
1
GRAMD2A co-localizes with E-Syt2/3 tethers in PIP-dependent manner, pre-marks PI(4,5)P2-enriched ER-PM sites for STIM1, and organizes ER-PM contact sites with roles in calcium homeostasis
PMID: 294698072
GRAMD2A pre-marks STIM1-occupied sites and its ablation impairs STIM1 translocation at membrane contact sites
PMID: 29684786⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
response to xenobiotic stimulusOpen Targets
Abnormality of the skeletal systemOpen Targets
metabolic syndromeOpen Targets
Abruptio PlacentaeOpen Targets
lung adenocarcinomaOpen Targets
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
type 2 diabetes mellitusOpen Targets
autosomal recessive spondylocostal dysostosisOpen Targets
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
joint contractures, osteochondromas, and B-cell lymphomaOpen Targets
multiple synostoses syndrome 2Open Targets
Testicular regression syndromeOpen Targets
Mayer-Rokitansky-Kuster-Hauser syndromeOpen Targets
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
Mayer-Rokitansky-Kuster-Hauser syndrome type 1Open Targets
Microcephaly - cervical spine fusion anomaliesOpen Targets
No pathogenic variants reported on ClinVar for this gene.