Gene
TMTC3
transmembrane O-mannosyltransferase targeting cadherins 3
- HGNC 26899↗(opens in a new tab)
- Ensembl gene ENSG00000139324↗(opens in a new tab)
- NCBI Gene 160418↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q21.32
- Coordinates
- Chromosome 12: 88,142,307–88,199,887 (GRCh38)
- Exons
- 14 exons across 57.6 kb
- Protein
- 914 amino acids
- Also known as
- FLJ90492, SMILE
- MANE Select transcript
- ENST00000266712.11NM_181783.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TMTC3 yet. The test sequences your whole genome, so your data includes it all the same.
How TMTC3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.2 kb of the gene's 57.6 kb; 2,745 of those bases code for the protein.
How a genome test reads TMTC3
11
positions in TMTC3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 57.6 kb of TMTC3, introns included, not only the 7.2 kb of exons.
Traits linked to TMTC3
The Human Phenotype Ontology lists these as features of the rare conditions TMTC3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed fine motor development
- Delayed motor skills
- Delayed social development
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Abnormal cerebral white matter morphology
- Abnormal myelination
Show 20 more traits
- Abnormal shape of nervous system
- Agyria
- Autism spectrum disorder
- Dysgyria
- Epilepsy
- Gray matter heterotopia
- Periventricular heterotopia
- Seizure affecting one half of brain
- Severe global developmental delay
- Small brainstem
- Small cerebellum
- Too much cerebrospinal fluid in the brain
- Type II lissencephaly
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Absent speech development
- Cerebral hypomyelination
- More grooves in brain
- Retrocerebellar cyst
- Delayed ability to walk
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TMTC3 gene: transmembrane O-mannosyltransferase targeting cadherins 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmtc3
Dante Labs. TMTC3 gene: transmembrane O-mannosyltransferase targeting cadherins 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmtc3
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