Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TCTN2 Gene

Aliases for TCTN2 Gene

  • Tectonic Family Member 2 2 3
  • TECT2 3 4 6
  • C12orf38 3 4
  • MKS8 3 6
  • Chromosome 12 Open Reading Frame 38 2
  • Meckel Syndrome 2
  • Tectonic-2 3
  • Type 8 2

External Ids for TCTN2 Gene

Previous HGNC Symbols for TCTN2 Gene

  • C12orf38

Previous GeneCards Identifiers for TCTN2 Gene

  • GC12P122723
  • GC12P124155
  • GC12P121116

Summaries for TCTN2 Gene

Entrez Gene Summary for TCTN2 Gene

  • 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]

GeneCards Summary for TCTN2 Gene

TCTN2 (Tectonic Family Member 2) is a Protein Coding gene. Diseases associated with TCTN2 include meckel syndrome 8 and tctn2-related joubert syndrome.

UniProtKB/Swiss-Prot for TCTN2 Gene

  • 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 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCTN2 Gene

Genomics for TCTN2 Gene

Regulatory Elements for TCTN2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TCTN2 Gene

Start:
123,671,113 bp from pter
End:
123,708,403 bp from pter
Size:
37,291 bases
Orientation:
Plus strand

Genomic View for TCTN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCTN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTN2 Gene

Proteins for TCTN2 Gene

  • Protein details for TCTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GX1-TECT2_HUMAN
    Recommended name:
    Tectonic-2
    Protein Accession:
    Q96GX1
    Secondary Accessions:
    • A8K7Y8
    • B3KPW5
    • Q9H966

    Protein attributes for TCTN2 Gene

    Size:
    697 amino acids
    Molecular mass:
    76871 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).
    SequenceCaution:
    • Sequence=BAB14370.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TCTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCTN2 Gene

Proteomics data for TCTN2 Gene at MOPED

Post-translational modifications for TCTN2 Gene

  • Ubiquitination at Lys443
  • Glycosylation at Asn146, Asn156, Asn372, Asn391, Asn497, and Asn636
  • Modification sites at PhosphoSitePlus

Other Protein References for TCTN2 Gene

Antibody Products

No data available for DME Specific Peptides for TCTN2 Gene

Domains for TCTN2 Gene

Gene Families for TCTN2 Gene

HGNC:
  • TCTN :Tectonic proteins

Protein Domains for TCTN2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCTN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GX1

UniProtKB/Swiss-Prot:

TECT2_HUMAN :
  • Q96GX1
Family:
  • Belongs to the tectonic family.
genes like me logo Genes that share domains with TCTN2: view

Function for TCTN2 Gene

Molecular function for TCTN2 Gene

UniProtKB/Swiss-Prot Function:
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 (By similarity).
genes like me logo Genes that share phenotypes with TCTN2: view

Animal Models for TCTN2 Gene

MGI Knock Outs for TCTN2:

Animal Model Products

CRISPR Products

miRNA for TCTN2 Gene

miRTarBase miRNAs that target TCTN2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCTN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targeting and HOMER Transcription for TCTN2 Gene

Localization for TCTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCTN2 Gene

Membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCTN2 Gene COMPARTMENTS Subcellular localization image for TCTN2 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016021 integral component of membrane IEA --
GO:0036038 TCTN-B9D complex ISS --
GO:0060170 ciliary membrane TAS --
genes like me logo Genes that share ontologies with TCTN2: view

Pathways for TCTN2 Gene

SuperPathways for TCTN2 Gene

No Data Available

Interacting Proteins for TCTN2 Gene

Gene Ontology (GO) - Biological Process for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway ISS --
GO:0042384 cilium assembly ISS --
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with TCTN2: view

No data available for Pathways by source for TCTN2 Gene

Transcripts for TCTN2 Gene

Unigene Clusters for TCTN2 Gene

Tectonic family member 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCTN2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCTN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - -
SP2:
SP3: -
SP4:

Relevant External Links for TCTN2 Gene

GeneLoc Exon Structure for
TCTN2
ECgene alternative splicing isoforms for
TCTN2

Expression for TCTN2 Gene

mRNA expression in normal human tissues for TCTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for TCTN2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TCTN2 Gene

SOURCE GeneReport for Unigene cluster for TCTN2 Gene Hs.167165

genes like me logo Genes that share expressions with TCTN2: view

Expression partners for TCTN2 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCTN2 Gene

Orthologs for TCTN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCTN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TCTN2 35
  • 83.18 (n)
  • 79.17 (a)
TCTN2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCTN2 35
  • 84.33 (n)
  • 80.51 (a)
TCTN2 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tctn2 35
  • 74.9 (n)
  • 68.64 (a)
Tctn2 16
Tctn2 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TCTN2 35
  • 98.05 (n)
  • 97.3 (a)
TCTN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tctn2 35
  • 74.52 (n)
  • 69.8 (a)
oppossum
(Monodelphis domestica)
Mammalia TCTN2 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCTN2 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCTN2 35
  • 60.31 (n)
  • 48.35 (a)
TCTN2 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tctn2 35
  • 54.89 (n)
  • 45.06 (a)
zebrafish
(Danio rerio)
Actinopterygii tctn2 35
  • 48.17 (n)
  • 39.6 (a)
tctn2 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for TCTN2:
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCTN2 Gene

ENSEMBL:
Gene Tree for TCTN2 (if available)
TreeFam:
Gene Tree for TCTN2 (if available)

Paralogs for TCTN2 Gene

No data available for Paralogs for TCTN2 Gene

Variants for TCTN2 Gene

Sequence variations from dbSNP and Humsavar for TCTN2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1969272 -- 123,685,746(+) taaga(A/G)gcagg intron-variant
rs3071665 -- 123,685,739(-) TTCTT(-/AAA)AAAAA intron-variant
rs3215247 -- 123,671,706(-) GAGGC(-/A)GGGGG intron-variant
rs3748271 -- 123,687,093(+) GGGCC(A/G)TACTC intron-variant
rs4391893 -- 123,679,875(+) gctgg(A/G)actac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCTN2 Gene

Variant ID Type Subtype PubMed ID
dgv530e1 CNV Complex 17122850
nsv442292 CNV CNV 18776908
esv35148 CNV Gain 17911159
nsv524660 CNV Gain 19592680
nsv455733 CNV Gain 19166990
nsv832534 CNV Loss 17160897
nsv519344 CNV Gain 19592680

Relevant External Links for TCTN2 Gene

HapMap Linkage Disequilibrium report
TCTN2
Human Gene Mutation Database (HGMD)
TCTN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTN2 Gene

Disorders for TCTN2 Gene

(1) OMIM Diseases for TCTN2 Gene (613846)

UniProtKB/Swiss-Prot

TECT2_HUMAN
  • Meckel syndrome 8 (MKS8) [MIM:613885]: 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. {ECO:0000269 PubMed:21462283}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=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.
genes like me logo Genes that share disorders with TCTN2: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for TCTN2 Gene

Publications for TCTN2 Gene

  1. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. (PMID: 21462283) Shaheen R. … Alkuraya F.S. (Hum. Mutat. 2011) 2 3 4
  2. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L. … Jackson P.K. (Cell 2011) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. 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

Products for TCTN2 Gene

Sources for TCTN2 Gene

Back to Top

Content