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3 records found for search term Tect2
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RGD IDSymbolNameDescriptionChrStartStopSpeciesAnnotationsMatchType
1314988Tctn2tectonic family member 2Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Located in ciliary transition zone. Part of MKS complex. Is expressed in several structures, including central nervous system; retina; and turbinate bone primordium. Human ortholog(s) of t5124736812124765803Mouse74old_gene_symbolgene, protein-coding, VALIDATED [RefSeq]
1591895Tctn2tectonic family member 2INVOLVED IN cilium assembly (ortholog); protein localization to ciliary transition zone (ortholog); smoothened signaling pathway (ortholog); ASSOCIATED WITH Desbuquois dysplasia (ortholog); genetic disease (ortholog); Joubert syndrome (ortholog); FOUND IN ciliary transition zone (ortholog); MKS comp123764371137668035Rat72old_gene_symbolgene, protein-coding, PROVISIONAL [RefSeq]
1605624TCTN2tectonic family member 2This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript varian12123671113123708399Human297old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]