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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMEM19
transmembrane protein 19
Chromosome 12 Β· 12q21.1
NCBI Gene: 55266Ensembl: ENSG00000139291.15HGNC: HGNC:25605UniProt: Q96HH6
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmembranecleft lipcleft palateneurodegenerative diseasegallbladder disease
✦AI Summary

Based on limited published evidence, TMEM19 is a transmembrane protein that binds other proteins and localizes to cellular membranes. TMEM19 functions as a binding protein for erucamide, a fatty acid amide, and is crucial for macrophage precursor cell activation and subsequent production of neurotrophic and angiogenic factors 1. The protein may play roles in retinal neurovascular homeostasis and neuroprotection during retinal degeneration. Additionally, genetic variants near TMEM19 are associated with increased susceptibility to non-syndromic cleft lip with palate 2, suggesting involvement in craniofacial development, though the specific molecular mechanism remains unclear.

Sources cited
1
TMEM19 is a novel binding protein for erucamide that is crucial for macrophage activation and neurotrophic/angiogenic factor production in retinal degeneration
PMID: 40950222
2
TMEM19 genetic variants are associated with non-syndromic cleft lip with palate susceptibility
PMID: 28232668
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
cleft lipOpen Targets
0.32Weak
cleft palateOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.30Weak
gallbladder diseaseOpen Targets
0.08Suggestive
orofacial cleftOpen Targets
0.05Suggestive
small intestine neuroendocrine tumorOpen Targets
0.04Suggestive
PainOpen Targets
0.04Suggestive
small intestine cancerOpen Targets
0.03Suggestive
small intestine carcinomaOpen Targets
0.03Suggestive
adrenal gland hyperfunctionOpen Targets
0.02Suggestive
Abnormality of the immune systemOpen Targets
0.02Suggestive
malignant renal pelvis neoplasmOpen Targets
0.02Suggestive
adverse effectOpen Targets
0.02Suggestive
response to stimulusOpen Targets
0.02Suggestive
skin appendage disorderOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
acneOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
BSCL2Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Heart
99%
Liver
50%
Lung
36%
Bone Marrow
17%
Ovary
16%
Gene Interaction Network
Click a node to explore
TMEM19BSCL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96HH6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.45–0.93]
RankingsWhere TMEM19 stands among ~20K protein-coding genes
  • #15,420of 20,598
    Most Researched16
  • #8,580of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedTMEM19
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Erucamide regulates retinal neurovascular crosstalk.
PMID: 40950222
bioRxiv Β· 2025
1.00
2
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
PMID: 28232668
Nat Commun Β· 2017
0.50