4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
membraneMicroscopic hematuriakeratoconusaneurysmglaucoma
TMEM212 (transmembrane protein 212) is a transmembrane protein located on chromosome 3.31 with emerging roles in neural function and metabolic regulation. Primary function involves contributions to the innate architecture of facial emotion processing: genetic variants in TMEM212 were associated with selective activation of the fusiform face area (FFA) in response to negative facial expressions, with activation patterns limited to this specialized brain region 1. The gene also appears relevant to metabolic phenotypes; SNPs near the PP13439-TMEM212 locus showed consistent association with body mass index (BMI) in African American populations, with effect sizes of 0.091-0.167 standard deviation units per effect allele 2. In cancer biology, TMEM212 emerged as one of 20 high-ranking biomarkers in transcriptome profiling studies for breast cancer prediction using machine learning approaches, achieving an area under the curve of 0.94 with logistic regression and multilayer perceptron classifiers 3. The precise molecular mechanisms underlying TMEM212's function in these diverse processes remain unclear. Clinical significance is currently limited; TMEM212 has not been identified in disease-causing mutations in pathological contexts such as polycystic kidney disease 4. Further investigation is needed to elucidate TMEM212's molecular function and confirm its utility as a biomarker or therapeutic target.
1
TMEM212 SNP at 3q26.31 associated with fusiform face area activation to negative facial expressions, suggesting role in innate facial emotion processing architecture
PMID: 228284952
SNPs near PP13439-TMEM212 locus associated with BMI variation in African Americans with effect sizes of 0.091-0.167 standard deviation units
PMID: 217015703
TMEM212 identified as one of 20 top biomarkers for breast cancer prediction using machine learning transcriptome analysis
PMID: 361830554
TMEM212 not identified in genetic analyses of fetal polycystic kidney disease cases using genomic autopsy
PMID: 41225654⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Microscopic hematuriaOpen Targets
open-angle glaucomaOpen Targets
Abruptio PlacentaeOpen Targets
viral eye infectionOpen Targets
essential thrombocythemiaOpen Targets
dehydrated hereditary stomatocytosisOpen Targets
primary familial polycythemia due to EPO receptor mutationOpen Targets
peritonsillar abscessOpen Targets
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
Pyruvate kinase hyperactivityOpen Targets
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
thrombocythemia 2Open Targets
smoking initiationOpen Targets
placenta praeviaOpen Targets
erythrocytosis, familial, 6Open Targets
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
No pathogenic variants reported on ClinVar for this gene.