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 5
  • C12orf38 3 4
  • TECT2 3 4
  • Chromosome 12 Open Reading Frame 38 2
  • Meckel Syndrome 2
  • Type 8 2
  • JBTS24 3
  • MKS8 3

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 joubert syndrome 1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.

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

Enhancers for TCTN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TCTN2 on UCSC Golden Path with GeneCards custom track

Promoters for TCTN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TCTN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCTN2 Gene

Chromosome:
12
Start:
123,671,113 bp from pter
End:
123,708,405 bp from pter
Size:
37,293 bases
Orientation:
Plus strand

Genomic View for TCTN2 Gene

Genes around TCTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 443
  • Glycosylation at Asn 146, Asn 156, Asn 372, Asn 391, Asn 497, and Asn 636
  • Modification sites at PhosphoSitePlus

Other Protein References for TCTN2 Gene

No data available for DME Specific Peptides for TCTN2 Gene

Domains & Families for TCTN2 Gene

Gene Families for TCTN2 Gene

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 :
  • Belongs to the tectonic family.
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

Human Phenotype Ontology for TCTN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCTN2 Gene

MGI Knock Outs for TCTN2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
cytoskeleton 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0036038 TCTN-B9D complex ISS --
genes like me logo Genes that share ontologies with TCTN2: view

Pathways & Interactions for TCTN2 Gene

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

Interacting Proteins for TCTN2 Gene

Gene Ontology (GO) - Biological Process for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with TCTN2: view

No data available for SIGNOR curated interactions for TCTN2 Gene

Drugs & Compounds for TCTN2 Gene

No Compound Related Data Available

Transcripts for TCTN2 Gene

Unigene Clusters for TCTN2 Gene

Tectonic family member 2:
Representative Sequences:

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 from HIPED for TCTN2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TCTN2: view

Protein tissue co-expression partners for TCTN2 Gene

- Elite partner

Primer Products

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
rs1969272 -- 123,685,746(+) taaga(A/G)gcagg intron-variant, upstream-variant-2KB
rs7133199 -- 123,674,638(+) cccac(A/C)ctgta intron-variant
rs7133543 -- 123,674,864(+) TTAAA(A/G)tttat intron-variant
rs7134074 -- 123,675,338(+) TCTGC(A/T)GTGAT intron-variant
rs7134863 -- 123,672,215(+) AACAA(A/G)GCATG 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

Variation tolerance for TCTN2 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.87% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for TCTN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meckel syndrome 8
  • mks8
joubert syndrome 1
  • joubert syndrome
meckel syndrome 1
  • meckel syndrome
tctn2-related joubert syndrome
tctn2-related meckel syndrome
  • meckel syndrome type 8
- elite association - COSMIC cancer census association via MalaCards
Search TCTN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECT2_HUMAN
  • Joubert syndrome 24 (JBTS24) [MIM:616654]: 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, renal disease, liver fibrosis, and polydactyly. {ECO:0000269 PubMed:21565611, ECO:0000269 PubMed:25118024}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Relevant External Links for TCTN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCTN2
genes like me logo Genes that share disorders with TCTN2: view

No data available for Genatlas 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  4. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PMID: 22268729) Liu B. … Wang L.S. (J. Proteome Res. 2012) 3
  5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L. … Jackson P.K. (Cell 2011) 3

Products for TCTN2 Gene

Sources for TCTN2 Gene

Content