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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEM212
transmembrane protein 212
Chromosome 3 · 3q26.31
NCBI Gene: 389177Ensembl: ENSG00000186329.10HGNC: HGNC:34295UniProt: A6NML5
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
membraneMicroscopic hematuriakeratoconusaneurysmglaucoma
✦AI Summary

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.

Sources cited
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: 22828495
2
SNPs near PP13439-TMEM212 locus associated with BMI variation in African Americans with effect sizes of 0.091-0.167 standard deviation units
PMID: 21701570
3
TMEM212 identified as one of 20 top biomarkers for breast cancer prediction using machine learning transcriptome analysis
PMID: 36183055
4
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.
Disease Associationsⓘ20
Microscopic hematuriaOpen Targets
0.37Weak
keratoconusOpen Targets
0.36Weak
aneurysmOpen Targets
0.33Weak
glaucomaOpen Targets
0.18Weak
open-angle glaucomaOpen Targets
0.14Weak
Abruptio PlacentaeOpen Targets
0.10Weak
brain cancerOpen Targets
0.10Weak
viral eye infectionOpen Targets
0.06Suggestive
essential thrombocythemiaOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.04Suggestive
peritonsillar abscessOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
thrombocythemia 2Open Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
erythrocytosis, familial, 6Open Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WDPCPProtein interaction78%ADAMTSL3Protein interaction78%CFAP54Protein interaction78%FSIP2Protein interaction70%
Tissue Expression6 tissues
Liver
100%
Lung
86%
Ovary
85%
Brain
77%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TMEM212WDPCPADAMTSL3CFAP54FSIP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NML5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.83–1.64]
RankingsWhere TMEM212 stands among ~20K protein-coding genes
  • #17,478of 20,598
    Most Researched9
  • #15,869of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedTMEM212
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach.
PMID: 22828495
Transl Psychiatry · 2012
1.00
2
Genome-wide association of BMI in African Americans.
PMID: 21701570
Obesity (Silver Spring) · 2012
0.75
3
Breast cancer prediction with transcriptome profiling using feature selection and machine learning methods.
PMID: 36183055
BMC Bioinformatics · 2022
0.50
4
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
PMID: 41225654
Hum Genomics · 2025
0.25