Human Gene TCTN3 (ENST00000614499.5) from GENCODE V44
  Description: tectonic family member 3 (from HGNC TCTN3)
RefSeq Summary (NM_015631): 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 Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].
Gencode Transcript: ENST00000614499.5
Gencode Gene: ENSG00000119977.22
Transcript (Including UTRs)
   Position: hg38 chr10:95,663,414-95,693,989 Size: 30,576 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr10:95,664,067-95,693,953 Size: 29,887 Coding Exon Count: 14 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:95,663,414-95,693,989)mRNA (may differ from genome)Protein (620 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TCTN3
Diseases sorted by gene-association score: orofaciodigital syndrome iv* (1369), joubert syndrome 18* (1230), tctn3-related joubert syndrome* (400), orofaciodigital syndrome vi* (143), orofaciodigital syndrome (16), occipital encephalocele (11), horseshoe kidney (11), short-rib thoracic dysplasia 6 with or without polydactyly (9), encephalocele (6), asphyxiating thoracic dystrophy (1), joubert syndrome 1 (1), meckel syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.46 RPKM in Thyroid
Total median expression: 619.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.8036-0.161 Picture PostScript Text
3' UTR -189.40653-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AK075357 - Homo sapiens cDNA PSEC0041 fis, clone NT2RP1000921.
AL050022 - Homo sapiens mRNA; cDNA DKFZp564D116 (from clone DKFZp564D116).
AK098295 - Homo sapiens cDNA FLJ40976 fis, clone UTERU2013586.
BC068449 - Homo sapiens tectonic family member 3, mRNA (cDNA clone MGC:87002 IMAGE:5298627), complete cds.
DQ278872 - Homo sapiens TECT3 (TECT3) mRNA, complete cds.
BC009494 - Homo sapiens tectonic family member 3, mRNA (cDNA clone IMAGE:3940375), partial cds.
AK299141 - Homo sapiens cDNA FLJ58250 complete cds, highly similar to Tectonic 3 precursor.
AY359022 - Homo sapiens clone DNA83560 RTPQ1881 (UNQ1881) mRNA, complete cds.
AK128834 - Homo sapiens cDNA FLJ46329 fis, clone TESTI4044770.
KJ902420 - Synthetic construct Homo sapiens clone ccsbBroadEn_11814 TCTN3 gene, encodes complete protein.
KJ893523 - Synthetic construct Homo sapiens clone ccsbBroadEn_02917 TCTN3 gene, encodes complete protein.
JD412078 - Sequence 393102 from Patent EP1572962.
JD324396 - Sequence 305420 from Patent EP1572962.
JD419703 - Sequence 400727 from Patent EP1572962.
JD465324 - Sequence 446348 from Patent EP1572962.
JD313601 - Sequence 294625 from Patent EP1572962.
DQ578386 - Homo sapiens piRNA piR-46498, complete sequence.
JD181416 - Sequence 162440 from Patent EP1572962.
BC061582 - Homo sapiens tectonic family member 3, mRNA (cDNA clone IMAGE:6174336), partial cds.
CU686635 - Synthetic construct Homo sapiens gateway clone IMAGE:100023240 5' read TCTN3 mRNA.
JD409958 - Sequence 390982 from Patent EP1572962.
JD288012 - Sequence 269036 from Patent EP1572962.
JD060181 - Sequence 41205 from Patent EP1572962.
JD086709 - Sequence 67733 from Patent EP1572962.
JD528374 - Sequence 509398 from Patent EP1572962.
JD171324 - Sequence 152348 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A804G9W2, BC068449, ENST00000614499.1, ENST00000614499.2, ENST00000614499.3, ENST00000614499.4, uc001klb.1, uc001klb.2, uc001klb.3, uc001klb.4, uc001klb.5
UCSC ID: ENST00000614499.5
RefSeq Accession: NM_015631

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TCTN3:
joubert (Joubert Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.