Identity
HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
C10orf61,JBTS18,OFD4,TECT3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26123
MIM: 613847
HGNC: 24519
Ensembl: ENSG00000119977
Variants:
dbSNP: 26123
ClinVar: 26123
TCGA: ENSG00000119977
COSMIC: TCTN3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36039988 | 2022 | A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. | 2 |
| 36039988 | 2022 | A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. | 2 |
| 33098376 | 2020 | Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly. | 7 |
| 33098376 | 2020 | Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly. | 7 |
| 22883145 | 2012 | TCTN3 mutations cause Mohr-Majewski syndrome. | 63 |
| 22883145 | 2012 | TCTN3 mutations cause Mohr-Majewski syndrome. | 63 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
Citation
Dessen P
TCTN3 (tectonic family member 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74597/gene-fusions/cancer-prone-explorer/
