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Aliases for TCTN3 Gene

Aliases for TCTN3 Gene

  • Tectonic Family Member 3 2 3 5
  • C10orf61 3 4
  • TECT3 3 4
  • Chromosome 10 Open Reading Frame 61 2
  • Tectonic-3 3
  • JBTS18 3
  • OFD4 3

External Ids for TCTN3 Gene

Previous HGNC Symbols for TCTN3 Gene

  • C10orf61

Previous GeneCards Identifiers for TCTN3 Gene

  • GC10M097414
  • GC10M091050

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. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCTN3 Gene

Genomics for TCTN3 Gene

Regulatory Elements for TCTN3 Gene

Enhancers for TCTN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G095829 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.2 -140.4 -140416 9.9 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A YBX1 YY1 ZNF121 GATA2 ZNF143 ENTPD1 TCTN3 ENTPD1-AS1 ALDH18A1 ENSG00000240527 PIR40431
GH10G095781 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.9 -90.8 -90776 6.6 PKNOX1 WRNIP1 ZFP64 SIN3A ZNF2 ZBTB7B ZNF121 GLIS2 FOS ZNF263 ENTPD1 TCTN3 CC2D2B BLNK GC10M095714
GH10G095817 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -125.9 -125948 4.2 PKNOX1 FOXA2 TBL1XR1 WRNIP1 RAD21 GATA2 SCRT2 FOS RELB ETV6 ENTPD1 TCTN3 ALDH18A1 SORBS1 GC10M095714 ENSG00000240527
GH10G095766 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.4 -74.6 -74638 4.1 ELF3 HDGF PKNOX1 WRNIP1 BMI1 ZNF366 CBX5 ZNF143 ZNF207 RELB ENTPD1 TCTN3 CC2D2B ENTPD1-AS1 ALDH18A1 ZNF518A GC10M095714
GH10G095741 1.4 Ensembl ENCODE dbSUPER 20.7 -48.7 -48708 3.1 FOXA2 ARNT TCF12 ZNF121 ZNF766 GATA2 MEF2D CREB3 MAFF PBX2 ENTPD1 TCTN3 PDLIM1 GC10M095714
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCTN3 on UCSC Golden Path with GeneCards custom track

Promoters for TCTN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031981 443 1401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for TCTN3 Gene

Chromosome:
10
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

Genes around TCTN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCTN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TCTN3 Gene

  • Ubiquitination at Lys220
  • Glycosylation at posLast=7878, isoforms=2, 3, 4179, and posLast=347347
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TCTN3 Gene

Domains & Families for TCTN3 Gene

Gene Families for TCTN3 Gene

Protein Domains for TCTN3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCTN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NUS6

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for TCTN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TCTN3

CRISPR Products

miRNA for TCTN3 Gene

miRTarBase miRNAs that target TCTN3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCTN3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TCTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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 & Interactions for TCTN3 Gene

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

Pathways by source 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:0007224 smoothened signaling pathway IMP 22883145
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IEA,ISS --
GO:0097711 ciliary basal body docking TAS --
genes like me logo Genes that share ontologies with TCTN3: view

No data available for SIGNOR curated interactions for TCTN3 Gene

Drugs & Compounds for TCTN3 Gene

No Compound Related Data Available

Transcripts for TCTN3 Gene

Unigene Clusters for TCTN3 Gene

Tectonic family member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TCTN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCTN3 Gene

This gene is overexpressed in Testis (26.8), Lung (18.7), Ovary (13.8), and Retina (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TCTN3 Gene



Protein tissue co-expression partners for TCTN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TCTN3 Gene:

TCTN3

SOURCE GeneReport for Unigene cluster for TCTN3 Gene:

Hs.438991

Evidence on tissue expression from TISSUES for TCTN3 Gene

  • Nervous system(4.8)
  • Lung(4.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTN3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
  • sternum
  • trachea
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • placenta
  • testicle
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TCTN3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCTN3 Gene

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 34 35
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia TCTN3 34 35
  • 86.89 (n)
dog
(Canis familiaris)
Mammalia TCTN3 34 35
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Tctn3 34 16 35
  • 79.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TCTN3 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857412 34
  • 61.11 (n)
TCTN3 35
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCTN3 35
  • 40 (a)
OneToOne
Species where no ortholog for TCTN3 was found in the sources mined by GeneCards:
  • 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
rs793888508 Pathogenic, Joubert syndrome 18 (JBTS18) [MIM:614815] 95,685,585(-) TGGCT(A/G/T)GAAAC intron-variant, reference, stop-gained
rs387907273 Pathogenic 95,682,776(-) ACTTG(C/T)AGCAG reference, stop-gained
rs745688122 Pathogenic 95,693,897(+) GTGCG(C/T)ATGGG reference, missense
rs764091969 Pathogenic 95,686,506(+) ATTCT(A/G/T)TGGAT reference, missense, stop-gained
rs768525869 Pathogenic 95,682,754(+) CATGA(-/AG)AGTCT reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv2662211 CNV deletion 23128226
esv2760117 CNV loss 21179565
esv3624282 CNV loss 21293372
esv3624283 CNV loss 21293372
esv3624284 CNV loss 21293372
nsv1110852 OTHER inversion 24896259
nsv1113335 CNV deletion 24896259
nsv526180 CNV gain 19592680
nsv526761 CNV loss 19592680

Variation tolerance for TCTN3 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCTN3 Gene

Human Gene Mutation Database (HGMD)
TCTN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTN3 Gene

Disorders for TCTN3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TCTN3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome iv
  • baraitser-burn syndrome
joubert syndrome 18
  • jbts18
orofaciodigital syndrome vi
  • joubert syndrome with orofaciodigital defect
orofaciodigital syndrome
  • orofaciodigital syndrome i
occipital encephalocele
- elite association - COSMIC cancer census association via MalaCards
Search TCTN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECT3_HUMAN
  • 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}.
  • 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.

Relevant External Links for TCTN3

Genetic Association Database (GAD)
TCTN3
Human Genome Epidemiology (HuGE) Navigator
TCTN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCTN3
genes like me logo Genes that share disorders with TCTN3: view

No data available for Genatlas for TCTN3 Gene

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 64
  2. TCTN3 mutations cause Mohr-Majewski syndrome. (PMID: 22883145) Thomas S. … Attie-Bitach T. (Am. J. Hum. Genet. 2012) 3 4 64
  3. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PMID: 16357211) Reiter J.F. … Skarnes W.C. (Genes Dev. 2006) 3 4 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TCTN3 Gene

Sources for TCTN3 Gene

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