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GeneE
10 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.
TMCO1
transmembrane and coiled-coil domains 1
Chromosome 1 Β· 1q24.1
NCBI Gene: 54499Ensembl: ENSG00000143183.18HGNC: HGNC:18188UniProt: B7Z591
123PubMed Papers
22Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneIon ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium channel activityprotein bindingribosome bindingcalcium ion transmembrane transportCerebro-facio-thoracic dysplasiaopen-angle glaucomacraniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndromeglaucoma
✦AI Summary

TMCO1 is a transmembrane endoplasmic reticulum protein with dual roles in calcium homeostasis and protein synthesis. As an ER calcium-selective channel, TMCO1 prevents intracellular Ca2+ store overfilling by assembling into homotetramer complexes that facilitate Ca2+ release in response to ER calcium loading 1. Beyond this channel function, TMCO1 is a critical component of the multi-pass translocon (MPT) complex, which mediates insertion of multi-pass membrane proteins into the ER lipid bilayer following SEC61-mediated insertion of initial transmembrane segments 23. TMCO1 dysfunction is implicated in multiple diseases. Biallelic loss-of-function TMCO1 variants cause craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1), characterized by developmental delay, distinctive facial features, and vertebral/rib malformations 4. Non-coding genetic variants near TMCO1 generate >2-fold differences in glaucoma risk among individuals 5, with the rs4656461 risk allele associated with 4-5 year earlier POAG diagnosis 6. TMCO1 is also dysregulated in malignancies: upregulation promotes glioma and ovarian cancer progression through EMT induction and calcium signaling 78, while in glaucomatous trabecular meshwork, TMCO1 drives ferroptosis and extracellular matrix deposition via ERK1/2 signaling 9.

Sources cited
1
TMCO1 functions as an ER calcium-selective channel preventing Ca2+ store overfilling and maintaining ER calcium homeostasis
PMID: 27212239
2
TMCO1 is a component of the multi-pass translocon (MPT) complex
PMID: 32820719
3
TMCO1 participates in MPT-mediated insertion of multi-pass transmembrane proteins into ER membranes by occluding SEC61 lateral gate
PMID: 36261522
4
Biallelic loss-of-function TMCO1 variants cause craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1)
PMID: 36708876
5
Non-coding VNTRs at TMCO1 generate >2-fold range of glaucoma risk across individuals
PMID: 37527660
6
rs4656461 risk allele near TMCO1 associates with 4-5 year earlier POAG diagnosis and TMCO1 expression in trabecular meshwork and retina
PMID: 22714896
7
TMCO1 overexpression in gliomas promotes cell proliferation and epithelial-mesenchymal transition
PMID: 35568751
8
TMCO1 regulates ovarian cancer proliferation, metastasis, and EMT signaling through CALR and VDAC1
PMID: 38372107
9
TMCO1 promotes ferroptosis and ECM deposition in glaucomatous trabecular meshwork via ERK1/2 signaling
PMID: 39343416
Disease Associationsβ“˜22
Cerebro-facio-thoracic dysplasiaOpen Targets
0.79Strong
open-angle glaucomaOpen Targets
0.62Moderate
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndromeOpen Targets
0.54Moderate
glaucomaOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.49Moderate
eye diseaseOpen Targets
0.41Moderate
low tension glaucomaOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.37Weak
cleft palateOpen Targets
0.37Weak
response to xenobiotic stimulusOpen Targets
0.28Weak
anaphylaxisOpen Targets
0.27Weak
smoking initiationOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.07Suggestive
Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1UniProt
Glaucoma, primary open angleUniProt
Pathogenic Variants16
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)Pathogenic
not provided|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1|Inborn genetic diseases|TMCO1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 46
NM_019026.6(TMCO1):c.376C>T (p.Gln126Ter)Pathogenic
not provided|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter)Pathogenic
not provided|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜…β˜†β˜†2025β†’ Residue 63
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1|Cerebro-facio-thoracic dysplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 155
NM_019026.6(TMCO1):c.71-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_019026.6(TMCO1):c.70G>A (p.Gly24Ser)Likely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†2022β†’ Residue 24
NM_019026.6(TMCO1):c.-54_-35dupLikely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†2022
NM_019026.6(TMCO1):c.-33delLikely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†2021
NM_019026.6(TMCO1):c.147dup (p.Leu50fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 50
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 165
NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 131
NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 124
NM_019026.6(TMCO1):c.87_90del (p.Val30fs)Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†2014β†’ Residue 30
NM_019026.6(TMCO1):c.323+3G>CPathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†2014
NM_019026.6(TMCO1):c.70G>C (p.Gly24Arg)Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜…β˜†β˜†β˜†β†’ Residue 24
NM_019026.6(TMCO1):c.259C>T (p.Arg87Ter)Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
β˜†β˜†β˜†β˜†2014β†’ Residue 87
View on ClinVar β†—
Related Genes
RPL39Protein interaction100%RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%RPL29Protein interaction100%RPL36AProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
95%
Heart
75%
Bone Marrow
67%
Ovary
49%
Lung
47%
Gene Interaction Network
Click a node to explore
TMCO1RPL39RPL13ARPL38RPL27RPL29RPL36A
PROTEIN STRUCTURE
Preparing viewer…
PDB6W6L Β· 3.84 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.96 [0.67–1.40]
RankingsWhere TMCO1 stands among ~20K protein-coding genes
  • #3,841of 20,598
    Most Researched123 Β· top quartile
  • #2,395of 5,498
    Most Pathogenic Variants16
  • #14,531of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedTMCO1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TMCO1 expression promotes cell proliferation and induces epithelial-mesenchymal transformation in human gliomas.
PMID: 35568751
Med Oncol Β· 2022
1.00
2
TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.
PMID: 40867644
Biomolecules Β· 2025
0.90
3
TMCO1 promotes ferroptosis and ECM deposition in glaucomatous trabecular meshwork via ERK1/2 signaling.
PMID: 39343416
Biochim Biophys Acta Mol Basis Dis Β· 2025
0.80
4
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
PMID: 36708876
Eur J Med Genet Β· 2023
0.70
5
Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.
PMID: 37527660
Cell Β· 2023
0.60