HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 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.
TMEM100
transmembrane protein 100
Chromosome 17 · 17q22
NCBI Gene: 55273Ensembl: ENSG00000166292.13HGNC: HGNC:25607UniProt: Q9NV29
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingBMP signaling pathwaycellular response to BMP stimulusplasma membranebronchial diseaseAbnormality of the skeletal systemplacental retentionresponse to exercise
✦AI Summary

TMEM100 is a transmembrane protein with dual roles in vascular development and nociception. During embryonic vascular development, TMEM100 functions downstream of BMP9/BMP10-ALK1 signaling to promote arterial endothelium differentiation and vascular morphogenesis; Tmem100 null mice exhibit embryonic lethality with impaired endothelial differentiation and defective vasculogenesis 1. In the nervous system, TMEM100 modulates pain signaling by weakening the inhibitory interaction between TRPA1 and TRPV1 channels in dorsal root ganglia neurons, thereby increasing TRPA1 activity and potentiating inflammatory mechanical hyperalgesia 2. TMEM100 is expressed in enteric neurons throughout the gastrointestinal tract and co-localizes with the pan-neuronal marker PGP9.5 3, suggesting developmental roles in enteric nervous system differentiation. In cardiac tissue, TMEM100 acts as a TAK1 receptor that suppresses pathological cardiac hypertrophy by inhibiting TAK1-JNK/p38 signaling 4. Clinically, TMEM100 expression is downregulated in multiple cancers including lung adenocarcinoma, gastric cancer, and non-small cell lung cancer, where it functions as a tumor suppressor inhibiting metastasis and enhancing chemotherapy sensitivity 567. These findings position TMEM100 as a multifunctional regulator relevant to developmental, neurological, cardiac, and oncological processes.

Sources cited
1
TMEM100 is activated by BMP9/BMP10 through ALK1 receptor signaling and is essential for embryonic arterial endothelium differentiation and vascular morphogenesis
PMID: 22783020
2
TMEM100 weakens TRPA1-TRPV1 association and potentiates TRPA1 activity to promote inflammatory pain signaling in dorsal root ganglia
PMID: 25640077
3
TMEM100 is a novel membrane-associated marker of enteric neurons in the gastrointestinal tract and is expressed in the brain and dorsal root ganglia
PMID: 23485812
4
TMEM100 acts as a TAK1 receptor that inhibits TAK1-JNK/p38 signaling to prevent pathological cardiac hypertrophy
PMID: 39261825
5
TMEM100 expression is downregulated in gastric cancer and functions as a tumor suppressor inhibiting migration, invasion, and promoting chemotherapy sensitivity
PMID: 31188741
6
TMEM100 is downregulated in lung cancer patients with low USP15 expression and functions as a tumor suppressor gene
PMID: 35422093
7
TMEM100 is downregulated in lung adenocarcinoma and functions as a ceRNA target of miR-421 to suppress cell migration and invasion
PMID: 35371319
8
TMEM100 is functionally co-expressed with TRPA1 and TRPV1 channels in human odontoblasts with strong protein correlation
PMID: 34514518
Disease Associationsⓘ20
bronchial diseaseOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
placental retentionOpen Targets
0.13Weak
response to exerciseOpen Targets
0.12Weak
heart diseaseOpen Targets
0.12Weak
posterior cortical atrophyOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
cardiac hypertrophyOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
prostate adenocarcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
thyroid cancerOpen Targets
0.06Suggestive
HydrocephalusOpen Targets
0.05Suggestive
left ventricular noncompactionOpen Targets
0.05Suggestive
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HJVShared pathway22%PIRTShared pathway20%ZFHX2Shared pathway20%OPRPNShared pathway20%SMR3AShared pathway20%SMR3BShared pathway20%
Tissue Expression6 tissues
Lung
100%
Ovary
20%
Heart
9%
Liver
5%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TMEM100HJVPIRTZFHX2OPRPNSMR3ASMR3B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NV29
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.93Intolerant
Observed/Expected LoF0.00 [0.00–0.46]
RankingsWhere TMEM100 stands among ~20K protein-coding genes
  • #12,901of 20,598
    Most Researched26
  • #2,593of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedTMEM100
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts.
PMID: 34514518
J Mol Histol · 2021
1.00
2
Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis.
PMID: 22783020
Proc Natl Acad Sci U S A · 2012
0.90
3
USP15 negatively regulates lung cancer progression through the TRAF6-BECN1 signaling axis for autophagy induction.
PMID: 35422093
Cell Death Dis · 2022
0.80
4
TMEM100 acts as a TAK1 receptor that prevents pathological cardiac hypertrophy progression.
PMID: 39261825
Cell Commun Signal · 2024
0.70
5
Distribution of TMEM100 in the mouse and human gastrointestinal tract--a novel marker of enteric nerves.
PMID: 23485812
Neuroscience · 2013
0.60