TCTN3 tectonic family member 3
Gene ID: 26123, updated on 10-Oct-2024Gene type: protein coding
Also known as: OFD4; TECT3; JBTS18; C10orf61
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- Go to complete Gene record for TCTN3
- Go to Variation Viewer for TCTN3 variants
Summary
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Associated conditions
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| Description | Tests |
|---|---|
| Familial aplasia of the vermis MedGen: C0431399GeneReviews: Joubert Syndrome | not available |
| Joubert syndrome 18 | not available |
| Orofacial-digital syndrome IV | not available |
Genomic context
- Location:
- 10q24.1
- Sequence:
- Chromosome: 10; NC_000010.11 (95663401..95693927, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TCTN3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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