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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMTC2
transmembrane O-mannosyltransferase targeting cadherins 2
Chromosome 12 · 12q21.31
NCBI Gene: 160335Ensembl: ENSG00000179104.9HGNC: HGNC:25440UniProt: B7Z639
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumdolichyl-phosphate-mannose-protein mannosyltransferase activityprotein bindingprotein O-linked glycosylation via mannosescoliosisneurodegenerative diseaseAbruptio Placentaesmoking initiation
✦AI Summary

TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2) is an endoplasmic reticulum-resident integral membrane protein that functions as an O-mannosyltransferase enzyme. TMTC2 transfers mannosyl residues from dolichyl-phosphate-mannose to serine or threonine residues on target proteins, with the four TMTC family members showing distinct roles in decorating cadherin domains with O-linked mannose glycans 1. The protein contains 11 transmembrane domains with tetratricopeptide repeat (TPR) domains oriented within the ER lumen, and structural modeling indicates it belongs to the GT-C/PMT superfamily of sugar transferases 1. Beyond its enzymatic function, TMTC2 serves as an adapter protein involved in ER calcium homeostasis, associating with SERCA2B calcium pump and calnexin chaperone 2. Clinically, TMTC2 variants are significantly associated with nonsyndromic sensorineural hearing loss, particularly the rs35725509 variant which causes progressive, bilateral hearing loss with characteristic audiometric patterns 3. Patients with TMTC2-associated hearing loss show favorable outcomes with cochlear implantation, achieving significant improvements in speech perception 4. TMTC2 has also been implicated in other conditions including glaucoma susceptibility, atopic march development, and as a potential biomarker in Parkinson's disease 567.

Sources cited
1
TMTC2 is an O-mannosyltransferase with 11 transmembrane domains belonging to GT-C/PMT superfamily
PMID: 33436046
2
TMTC2 is an ER membrane protein with TPR domains involved in calcium homeostasis through SERCA2B interaction
PMID: 24764305
3
TMTC2 variant rs35725509 is associated with autosomal dominant sensorineural hearing loss
PMID: 27311106
4
Patients with TMTC2-associated hearing loss show significant improvement with cochlear implantation
PMID: 38769084
5
TMTC2 locus is associated with optic disc morphology and glaucoma susceptibility
PMID: 25631615
6
TMTC2 region is associated with atopic march development
PMID: 26542096
7
TMTC2 identified as potential biomarker in Parkinson's disease
PMID: 30665415
Disease Associationsⓘ20
scoliosisOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.32Weak
smoking initiationOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.31Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.29Weak
peritonitisOpen Targets
0.27Weak
nutritional deficiency diseaseOpen Targets
0.27Weak
hemolytic anemiaOpen Targets
0.24Weak
open-angle glaucomaOpen Targets
0.24Weak
Barrett's esophagusOpen Targets
0.23Weak
ovarian dysfunctionOpen Targets
0.23Weak
ovarian neoplasmOpen Targets
0.23Weak
abscessOpen Targets
0.22Weak
laryngeal diseaseOpen Targets
0.21Weak
cellulitisOpen Targets
0.21Weak
glaucomaOpen Targets
0.20Weak
sensorineural hearing lossOpen Targets
0.19Weak
deafnessOpen Targets
0.18Weak
voice disordersOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CIB3Shared pathway50%SELENONShared pathway33%CRPPAShared pathway33%TMTC4Shared pathway33%TMTC1Shared pathway33%FKRPShared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Lung
44%
Heart
31%
Ovary
19%
Liver
9%
Gene Interaction Network
Click a node to explore
TMTC2CIB3SELENONCRPPATMTC4TMTC1FKRP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N394
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.48 [0.36–0.64]
RankingsWhere TMTC2 stands among ~20K protein-coding genes
  • #11,639of 20,598
    Most Researched32
  • #4,571of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedTMTC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.
PMID: 33436046
Biol Direct · 2021
1.00
2
TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.
PMID: 24764305
J Biol Chem · 2014
0.90
3
Cochlear Implant Outcomes in Patients With TMTC2 -Associated Sensorineural Hearing Loss and Auditory Neuropathy/Auditory Dys-Synchrony.
PMID: 38769084
Otol Neurotol · 2024
0.80
4
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
PMID: 27311106
JAMA Otolaryngol Head Neck Surg · 2016
0.70
5
miRNAs and target genes in the blood as biomarkers for the early diagnosis of Parkinson's disease.
PMID: 30665415
BMC Syst Biol · 2019
0.60