TCTN3
Tectonic family member 3 is a protein in humans that is encoded by the TCTN3 gene. [5]
TCTN3 | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||
Aliases | TCTN3, C10orf61, JBTS18, OFD4, TECT3, tectonic family member 3 | ||||||||||||||||||||||||
External IDs | OMIM: 613847 MGI: 1914840 HomoloGene: 9221 GeneCards: TCTN3 | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 10: 95.66 – 95.69 Mb | Chr 19: 40.6 – 40.61 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
|
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 Oral-facial-digital syndrome IV and Joubert syndrome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].
References
- GRCh38: Ensembl release 89: ENSG00000119977 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000025008 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Tectonic family member 3". Retrieved 2012-12-22.
Further reading
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.