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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, Type 8 2
  • Tectonic-2 3
  • 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 24. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition.

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 CIViC summary , 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 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
GH12G123711 1.7 FANTOM5 ENCODE dbSUPER 43.9 +42.3 42325 4.7 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF143 ZNF263 TCTN2 DDX55 DNAH10 LOC101927415 ATP6V0A2 RPL27P12
GH12G124504 2 FANTOM5 Ensembl ENCODE dbSUPER 33.9 +845.5 845491 24.5 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 EIF2B1 NCOR2 TCTN2 LOC101927415 ATP6V0A2 DHX37 ENSG00000275389 ENSG00000270130 UBC LOC105370047
GH12G123741 1.3 Ensembl ENCODE dbSUPER 25.5 +71.6 71586 1.6 HDAC1 PKNOX1 ZNF766 ELK1 EGR2 ZBTB11 USF2 HDAC8 ZNF592 CBX8 TCTN2 GTF2H3 EIF2B1 MPHOSPH9 ENSG00000280300 LOC105370042
GH12G123074 1.4 Ensembl ENCODE dbSUPER 23 -595.0 -595013 3.0 PKNOX1 ZSCAN4 ARID4B FEZF1 RAD21 ZNF48 GLIS2 EGR1 SCRT2 ZNF207 C12orf65 CDK2AP1 ENSG00000235423 TCTN2 EIF2B1 OGFOD2 PITPNM2 GTF2H3 ABCB9 ARL6IP4
GH12G124427 1.7 Ensembl ENCODE dbSUPER 18.6 +757.6 757635 3.1 CREB3L1 MLX AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 EIF2B1 NCOR2 ATP6V0A2 LOC101927415 DHX37 GTF2H3 TCTN2 ENSG00000270130 ENSG00000269938 ENSG00000270061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000058770 188 1000 ATF1 ARID4B SIN3A YY1 GLIS2 ZNF207 FOS SP5 YY2 ZHX2

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

Post-translational modifications for TCTN2 Gene

  • Ubiquitination at posLast=443443
  • Glycosylation at Asn146, posLast=156156, posLast=372372, Asn391, isoforms=2497, and posLast=636636
  • 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

Inhibitory RNA Products

Clone 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
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 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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0036038 MKS 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

Pathways by source for TCTN2 Gene

Gene Ontology (GO) - Biological Process for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS --
GO:0097711 ciliary basal body docking TAS --
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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TCTN2 Gene



Protein tissue co-expression partners for TCTN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TCTN2 Gene:

TCTN2

SOURCE GeneReport for Unigene cluster for TCTN2 Gene:

Hs.167165

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TCTN2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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
chimpanzee
(Pan troglodytes)
Mammalia TCTN2 34 35
  • 98.05 (n)
dog
(Canis familiaris)
Mammalia TCTN2 34 35
  • 84.33 (n)
cow
(Bos Taurus)
Mammalia TCTN2 34 35
  • 83.18 (n)
mouse
(Mus musculus)
Mammalia Tctn2 34 16 35
  • 74.9 (n)
rat
(Rattus norvegicus)
Mammalia Tctn2 34
  • 74.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCTN2 35
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCTN2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCTN2 34 35
  • 60.31 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tctn2 34
  • 54.89 (n)
zebrafish
(Danio rerio)
Actinopterygii tctn2 34 35
  • 48.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToOne
Species where no ortholog for TCTN2 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)
  • 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
rs201010803 Pathogenic 123,704,670(+) GGAGA(A/T)ACTCG reference, missense
rs201827132 Pathogenic 123,686,884(+) TCACC(A/G/T)GCGTG reference, missense, utr-variant-5-prime
rs374349989 Pathogenic 123,699,702(+) CTTGC(A/G)GGGAG splice-acceptor-variant
rs760830696 Pathogenic 123,686,974(+) CCTTT(-/C)TGTGT reference, frameshift-variant, utr-variant-5-prime
rs786204788 Pathogenic 123,706,833(+) ACAGT(A/T)ACCCC reference, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv1566n100 CNV gain 25217958
dgv1567n100 CNV gain 25217958
dgv1568n100 CNV loss 25217958
dgv2926n54 CNV gain 21841781
dgv309e214 CNV gain 21293372
esv2759918 CNV gain 17122850
esv35148 CNV gain 17911159
nsv1051385 CNV gain 25217958
nsv1052065 CNV gain+loss 25217958
nsv442292 CNV gain 18776908
nsv455733 CNV gain 19166990
nsv519344 CNV gain 19592680
nsv524660 CNV gain 19592680
nsv832534 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
TCTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTN2

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

Disorders for TCTN2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
meckel syndrome 8
  • mks8
joubert syndrome 24
  • jbts24
joubert syndrome 1
  • joubert syndrome
tctn2-related meckel syndrome
  • meckel syndrome type 8
tctn2-related joubert syndrome
- 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 64
  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 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64

Products for TCTN2 Gene

Sources for TCTN2 Gene

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