NP_079085
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
76,743 Da
NCBI Official Full Name
tectonic-2 isoform 1
NCBI Official Synonym Full Names
tectonic family member 2
NCBI Protein Information
tectonic-2
UniProt Protein Name
Tectonic-2
UniProt Synonym Gene Names
UniProt Entry Name
TECT2_HUMAN
NCBI Summary for TCTN2
This 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 variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
UniProt Comments for TCTN2
TCTN2: 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. Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8). 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. 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. Belongs to the tectonic family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: cytoskeleton; cytoplasm; integral to membrane
Biological Process: smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis
Disease: Joubert Syndrome 1; Meckel Syndrome, Type 8
Research Articles on TCTN2
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Products associated with TCTN2 blocking peptide
Pathways associated with TCTN2 blocking peptide
Diseases associated with TCTN2 blocking peptide
Organs/Tissues associated with TCTN2 blocking peptide
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