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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMEM214
transmembrane protein 214
Chromosome 2 Β· 2p23.3
NCBI Gene: 54867Ensembl: ENSG00000119777.20HGNC: HGNC:25983UniProt: H7C0H8
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumcytoplasmic microtubuleendoplasmic reticulum membraneLimb painFlexion contractureautismAbdominal pain
✦AI Summary

TMEM214 is a transmembrane protein localized to the outer membrane of the endoplasmic reticulum (ER) that functions as a critical mediator of ER stress-induced apoptosis 1. Its primary mechanism involves acting as a scaffolding anchor for recruitment and activation of procaspase 4 to the ER; TMEM214 overexpression induces apoptosis while knockdown inhibits ER stress-induced apoptotic signaling 1. The protein constitutively associates with procaspase 4, and both proteins are essential for apoptosis following ER stress caused by misfolded protein aggregation 1. Clinically, TMEM214 dysfunction has been associated with autism spectrum disorder (ASD) in human populations, with biallelic variants identified in Pakistani families with genetic enrichment for recessive inheritance patterns 2. Additionally, TMEM214 DNA methylation in umbilical cord tissue correlates with gestational weight gain and may serve as an early epigenetic biomarker for offspring obesity risk, suggesting broader developmental implications 3. In muscle tissue, TMEM214 represents one of several nuclear envelope proteins examined in Emery-Dreifuss muscular dystrophy, though it showed variable distribution patterns across patient samples without consistent diagnostic utility 4. These findings indicate TMEM214's multifaceted roles in cellular stress responses and developmental programming, though additional mechanistic studies are needed to clarify its full pathophysiological significance.

Sources cited
1
TMEM214 mediates ER stress-induced apoptosis by serving as an anchor for procaspase 4 recruitment and activation
PMID: 23661706
2
Biallelic TMEM214 variants identified in autism spectrum disorder cases from Pakistani families
PMID: 38649688
3
TMEM214 DNA methylation in umbilical cord tissue associates with gestational weight gain and offspring obesity risk
PMID: 37513594
4
TMEM214 is a muscle-specific nuclear envelope protein showing variable distribution in Emery-Dreifuss muscular dystrophy patient samples
PMID: 28214269
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Limb painOpen Targets
0.12Weak
autismOpen Targets
0.11Weak
Flexion contractureOpen Targets
0.11Weak
Abdominal painOpen Targets
0.09Suggestive
musculoskeletal system diseaseOpen Targets
0.07Suggestive
anxiety disorderOpen Targets
0.07Suggestive
HeadacheOpen Targets
0.06Suggestive
smoking cessationOpen Targets
0.05Suggestive
osteoarthritis, hipOpen Targets
0.05Suggestive
osteoarthritis, kneeOpen Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.02Suggestive
ArthropathyOpen Targets
0.02Suggestive
Emery-Dreifuss muscular dystrophyOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SEC61A1Protein interaction100%CNOT2Protein interaction87%SEC62Protein interaction87%SEC63Protein interaction87%EXD2Protein interaction85%
Tissue Expression6 tissues
Liver
100%
Lung
82%
Ovary
77%
Heart
45%
Bone Marrow
32%
Brain
23%
Gene Interaction Network
Click a node to explore
TMEM214SEC61A1CNOT2SEC62SEC63EXD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NUQ4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.63–0.93]
RankingsWhere TMEM214 stands among ~20K protein-coding genes
  • #7,132of 20,598
    Most Researched66
  • #8,548of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedTMEM214
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
PMID: 38649688
Sci Rep Β· 2024
1.00
2
Transmembrane Protein 214 (TMEM214) mediates endoplasmic reticulum stress-induced caspase 4 enzyme activation and apoptosis.
PMID: 23661706
J Biol Chem Β· 2013
0.75
3
Gestational Weight Gain Relates to DNA Methylation in Umbilical Cord, Which, In Turn, Associates with Offspring Obesity-Related Parameters.
PMID: 37513594
Nutrients Β· 2023
0.50
4
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.
PMID: 28214269
Neuromuscul Disord Β· 2017
0.25