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Aliases for TCTN3 Gene

Aliases for TCTN3 Gene

  • Tectonic Family Member 3 2 3
  • C10orf61 3 4 6
  • TECT3 3 4 6
  • JBTS18 3 6
  • OFD4 3 6
  • Chromosome 10 Open Reading Frame 61 2
  • Tectonic-3 3

External Ids for TCTN3 Gene

Previous Symbols for TCTN3 Gene

  • C10orf61

Summaries for TCTN3 Gene

Entrez Gene Summary for TCTN3 Gene

  • 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]

GeneCards Summary for TCTN3 Gene

TCTN3 (Tectonic Family Member 3) is a Protein Coding gene. Diseases associated with TCTN3 include orofaciodigital syndrome iv and joubert syndrome 18. An important paralog of this gene is TCTN1.

UniProtKB/Swiss-Prot for TCTN3 Gene

  • Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCTN3 Gene

Genomics for TCTN3 Gene

Genomic Location for TCTN3 Gene

Start:
95,663,396 bp from pter
End:
95,694,143 bp from pter
Size:
30,748 bases
Orientation:
Minus strand

Genomic View for TCTN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCTN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTN3 Gene

Regulatory Elements for TCTN3 Gene

Proteins for TCTN3 Gene

  • Protein details for TCTN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUS6-TECT3_HUMAN
    Recommended name:
    Tectonic-3
    Protein Accession:
    Q6NUS6
    Secondary Accessions:
    • A6NIC8
    • B0QZ90
    • B4DR81
    • Q6P7P3
    • Q6UW27
    • Q6ZQQ0
    • Q8N7K1
    • Q8NBQ0
    • Q96GF7
    • Q9Y3U1

    Protein attributes for TCTN3 Gene

    Size:
    607 amino acids
    Molecular mass:
    66157 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).
    SequenceCaution:
    • Sequence=AAH68449.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=ABB90564.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC11567.1; Type=Frameshift; Positions=238; Evidence={ECO:0000305}; Sequence=BAC87634.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI16768.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TCTN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCTN3 Gene

Proteomics data for TCTN3 Gene at MOPED

Post-translational modifications for TCTN3 Gene

Other Protein References for TCTN3 Gene

No data available for DME Specific Peptides for TCTN3 Gene

Domains for TCTN3 Gene

Gene Families for TCTN3 Gene

HGNC:
  • TCTN :Tectonic proteins

Protein Domains for TCTN3 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TECT3_HUMAN
Family:
  • Belongs to the tectonic family.:
    • Q6NUS6
genes like me logo Genes that share domains with TCTN3: view

Function for TCTN3 Gene

Molecular function for TCTN3 Gene

UniProtKB/Swiss-Prot Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.

Gene Ontology (GO) - Molecular Function for TCTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TCTN3: view

Phenotypes for TCTN3 Gene

GenomeRNAi human phenotypes for TCTN3:
genes like me logo Genes that share phenotypes with TCTN3: view

miRNA for TCTN3 Gene

miRTarBase miRNAs that target TCTN3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TCTN3 Gene

Localization for TCTN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCTN3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCTN3 Gene COMPARTMENTS Subcellular localization image for TCTN3 gene
Compartment Confidence
extracellular 3
plasma membrane 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TCTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0060170 ciliary membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with TCTN3: view

Pathways for TCTN3 Gene

SuperPathways for TCTN3 Gene

No Data Available

Interacting Proteins for TCTN3 Gene

Gene Ontology (GO) - Biological Process for TCTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway IMP 22883145
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with TCTN3: view

No data available for Pathways by source for TCTN3 Gene

Transcripts for TCTN3 Gene

Unigene Clusters for TCTN3 Gene

Tectonic family member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TCTN3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for TCTN3 Gene

GeneLoc Exon Structure for
TCTN3
ECgene alternative splicing isoforms for
TCTN3

Expression for TCTN3 Gene

mRNA expression in normal human tissues for TCTN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TCTN3 Gene

SOURCE GeneReport for Unigene cluster for TCTN3 Gene Hs.438991

genes like me logo Genes that share expressions with TCTN3: view

Orthologs for TCTN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCTN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCTN3 36
  • 99.61 (n)
  • 99.5 (a)
TCTN3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCTN3 36
  • 86.89 (n)
  • 81.85 (a)
TCTN3 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCTN3 36
  • 85.83 (n)
  • 80.07 (a)
TCTN3 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tctn3 36
  • 79.46 (n)
  • 73.78 (a)
Tctn3 16
Tctn3 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCTN3 37
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 53 (a)
OneToMany
-- 37
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100857412 36
  • 61.11 (n)
  • 50.45 (a)
TCTN3 37
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCTN3 37
  • 40 (a)
OneToOne
Species with no ortholog for TCTN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TCTN3 Gene

ENSEMBL:
Gene Tree for TCTN3 (if available)
TreeFam:
Gene Tree for TCTN3 (if available)

Paralogs for TCTN3 Gene

Paralogs for TCTN3 Gene

genes like me logo Genes that share paralogs with TCTN3: view

Variants for TCTN3 Gene

Sequence variations from dbSNP and Humsavar for TCTN3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs6946 -- 95,663,951(-) ATAGA(G/T)GACCT utr-variant-3-prime
rs14997 -- 95,663,566(+) CTGGG(C/G)AAAGG utr-variant-3-prime
rs701891 -- 95,663,492(-) CTTTT(C/T)TACTA utr-variant-3-prime
rs951418 -- 95,689,516(-) CATGT(A/G)TAAAG intron-variant
rs1064654 -- 95,663,497(-) GCTTT(C/T)TTTTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TCTN3 Gene

Variant ID Type Subtype PubMed ID
nsv526180 CNV Gain 19592680
esv2662211 CNV Deletion 23128226
nsv526761 CNV Loss 19592680

Relevant External Links for TCTN3 Gene

HapMap Linkage Disequilibrium report
TCTN3
Human Gene Mutation Database (HGMD)
TCTN3

Disorders for TCTN3 Gene

(2) OMIM Diseases for TCTN3 Gene (613847)

UniProtKB/Swiss-Prot

TECT3_HUMAN
  • Orofaciodigital syndrome 4 (OFD4) [MIM:258860]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 18 (JBTS18) [MIM:614815]: A form 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. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect. {ECO:0000269 PubMed:22883145}. Note=The disease is caused by mutations affecting the gene represented in this entry. TCTN3-mutated fibroblasts from JBTS18 patients fail to respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to reduced Shh signaling (PubMed:22883145). {ECO:0000269 PubMed:22883145}.

(1) University of Copenhagen DISEASES for TCTN3 Gene

Relevant External Links for TCTN3

Genetic Association Database (GAD)
TCTN3
Human Genome Epidemiology (HuGE) Navigator
TCTN3
genes like me logo Genes that share disorders with TCTN3: view

Publications for TCTN3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. TCTN3 mutations cause Mohr-Majewski syndrome. (PMID: 22883145) Thomas S. … Attie-Bitach T. (Am. J. Hum. Genet. 2012) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TCTN3 Gene

Sources for TCTN3 Gene

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