TCTN3 gene homepage

General information
Gene symbol TCTN3
Gene name tectonic family member 3
Chromosome 10
Chromosomal band q23.33
Imprinted Unknown
Genomic reference NG_032953.1
Transcript reference NM_015631.5
Exon/intron information NM_015631.5 exon/intron table
Associated with diseases JBTS-18, OFD-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) GVsharedLOVD, with Curator vacancy
Total number of public variants reported 39
Unique public DNA variants reported 31
Individuals with public variants 80
Hidden variants 6
Date created May 03, 2013
Date last updated June 29, 2020
Version TCTN3:200629

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015631.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 24519
Entrez Gene 26123
PubMed articles TCTN3
OMIM - Gene 613847
OMIM - Diseases JBTS-18 (Joubert syndrome, type 18 (JBTS-18))
OFD-4 (orofaciodigital syndrome, type IV (OFD-4))
GeneCards TCTN3
GeneTests TCTN3

Active transcripts




NCBI ID     

NCBI Protein ID     

00020931 10 transcript variant 1 NM_015631.5 NP_056446.4 39

Copyright & disclaimer
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