HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMEM114
transmembrane protein 114
Chromosome 16 · 16p13.2
NCBI Gene: 283953Ensembl: ENSG00000232258.7HGNC: HGNC:33227UniProt: A0A096LNY9
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingapical plasma membranebicellular tight junctionmembranepreeclampsiaAbruptio Placentaealcohol drinkingconnective tissue neoplasm
✦AI Summary

TMEM114 (transmembrane protein 114) is a novel four-exon gene located on chromosome 16.3 that encodes a 223-amino acid transmembrane protein with four predicted transmembrane domains 1. The protein is structurally related to voltage-dependent calcium channel gamma subunit family members rather than claudins, and contains N-linked glycosylation sites 2. In the eye, TMEM114 is expressed in lens epithelial cells and the transitional zone of early fiber differentiation 1, where it plays a role in normal eye development 2. TMEM114 is clinically significant for ocular development and metabolism. Loss-of-function mutations cause autosomal dominant congenital cataracts, with missense mutations (p.I35T, p.F106L) affecting highly-conserved amino acids in the first extracellular domain 1. Promoter disruption via chr16 translocation t(16;22) also causes familial lamellar cataract 1. Beyond ophthalmology, genome-wide association studies identified a TMEM114 SNP (rs62018863) associated with preserved ratio impaired spirometry (PRISm), a novel lung function phenotype, suggesting involvement in respiratory health 3. Pharmacogenetic studies implicate TMEM114 polymorphisms in incretin pathway disturbances affecting glycemic response and weight loss to GLP-1 receptor agonist therapy in type 2 diabetes 45, with variants showing 30-40% effects on GLP-1-stimulated insulin secretion 5.

Sources cited
1
TMEM114 is a four-exon gene encoding 223 amino acids with four transmembrane domains; expressed in lens epithelial cells; mutations cause congenital lamellar cataract
PMID: 17492639
2
TMEM114 protein is glycosylated and related to voltage-dependent calcium channel gamma subunits; knockdown impairs eye development
PMID: 21689651
3
TMEM114 SNP (rs62018863) is associated with preserved ratio impaired spirometry in genome-wide association study
PMID: 38097206
4
TMEM114 polymorphisms implicated in incretin pathway disturbances and GLP-1 receptor agonist response in type 2 diabetes
PMID: 33272167
5
TMEM114 locus shows 30-40% effect on GLP-1-stimulated insulin secretion in hyperglycemic clamps
PMID: 23674605
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.18Weak
Abruptio PlacentaeOpen Targets
0.17Weak
alcohol drinkingOpen Targets
0.14Weak
connective tissue neoplasmOpen Targets
0.14Weak
protozoa infectious diseaseOpen Targets
0.13Weak
exostosisOpen Targets
0.13Weak
hypertrophic cardiomyopathyOpen Targets
0.13Weak
male infertilityOpen Targets
0.13Weak
cholelithiasisOpen Targets
0.12Weak
non-Hodgkins lymphomaOpen Targets
0.12Weak
benign prostatic hyperplasiaOpen Targets
0.12Weak
neuroendocrine neoplasmOpen Targets
0.12Weak
liver diseaseOpen Targets
0.12Weak
smoking initiationOpen Targets
0.11Weak
pericarditisOpen Targets
0.11Weak
ParalysisOpen Targets
0.11Weak
bone neoplasmOpen Targets
0.10Suggestive
placenta praeviaOpen Targets
0.09Suggestive
ProptosisOpen Targets
0.08Suggestive
placental retentionOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CRYBB1Protein interaction94%CRYBB2Protein interaction94%CRYGDProtein interaction94%GJA3Protein interaction94%LIM2Protein interaction94%CHMP4BProtein interaction74%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
TMEM114CRYBB1CRYBB2CRYGDGJA3LIM2CHMP4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt B3SHH9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.57–1.63]
RankingsWhere TMEM114 stands among ~20K protein-coding genes
  • #16,018of 20,598
    Most Researched14
  • #15,795of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedTMEM114
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Genome-wide association study of preserved ratio impaired spirometry (PRISm).
PMID: 38097206
Eur Respir J · 2024
1.00
2
Pharmacogenetics of the Glucagon-like Peptide-1 Receptor Agonist Liraglutide: A Step Towards Personalized Type 2 Diabetes Management.
PMID: 33272167
Curr Pharm Des · 2021
0.89
3
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
PMID: 17492639
Hum Mutat · 2007
0.78
4
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.
PMID: 21689651
FEBS Lett · 2011
0.67
5
Clinical and molecular delineation of a 16p13.2p13.13 microduplication.
PMID: 25596524
Eur J Med Genet · 2015
0.56