Version 5.4
Homo sapiens Protein: TCTN2
Summary
InnateDB Protein IDBP-384890.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TCTN2
Protein Name tectonic family member 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000395171
InnateDB Gene IDBG-63665 (TCTN2)
Protein Structure
UniProt Annotation
Function Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity). {ECO:0000250}.
Subcellular Localization Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
Disease Associations Meckel syndrome 8 (MKS8) [MIM:613885]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:21462283}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in TCTN2 may be a cause of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007224 smoothened signaling pathway
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0016021 integral component of membrane
GO:0036038 TCTN-B9D complex
Protein Structure and Domains
PDB ID
InterPro IPR011677 Domain of unknown function DUF1619
PFAM PF07773
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96GX1
PhosphoSite PhosphoSite-Q96GX1
TrEMBL
UniProt Splice Variant
Entrez Gene 79867
UniGene Hs.167165
RefSeq NP_001137322
HUGO HGNC:25774
OMIM 613846
CCDS CCDS45007
HPRD 07805
IMGT
EMBL AC117503 AK023037 AK056924 AK292153 BC009112 CH471054 DQ278870
GenPept AAH09112 ABB90562 BAB14370 BAF84842 BAG51827 EAW98430

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca