TCTN2 Gene
protein-coding GIFtS: 46
GCID: GC12P124155
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|
tectonic family member 2(Previous name: chromosome 12 open reading frame 38 )
(Previous symbol: C12orf38)
| |
Aliases
for TCTN2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Tectonic Family Member 21 2 | | FLJ129751 | | C12orf381 2 3 | | Chromosome 12 Open Reading Frame 381 | | TECT21 2 3 | | Tectonic-21 | | MKS81 2 | | |
Export aliases for TCTN2 gene to outside databasesPrevious GC identifers: GC12P122723 GC12P121116 |
Summaries
for TCTN2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TCTN2:
This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that thisprotein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associatedwith Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found forthis gene. (provided by RefSeq, Oct 2011)
UniProtKB/Swiss-Prot: TECT2_HUMAN, Q96GX1Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia andacting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Requiredfor hedgehog signaling transduction (By similarity)
|
Genomic Views
for TCTN2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009755.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TCTN2 gene promoter:
FOXF2 NRSF form 1 Nkx2-5 NRSF form 2 E4BP4 C/EBPalpha HEN1 Msx-1 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for TCTN2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCTN2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31TCTN2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P124155: view genomic region
(about GC identifiers)
Start:
|
124,155,660 bp from pter |
End:
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124,192,948 bp from pter |
Size:
|
37,289 bases |
Orientation:
|
plus strand |
|
Proteins
for TCTN2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TECT2_HUMAN, Q96GX1 (See
protein sequence)Recommended Name: Tectonic-2 precursor Size: 697 amino acids; 76871 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Cytoplasm, cytoskeleton, cilium basalbody (By similarity). Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme(By similarity)
Sequence caution: Sequence=BAB14370.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K7Y8 B3KPW5 Q9H966Alternative splicing: 2 isoforms: Q96GX1-1 Q96GX1-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TCTN2: NX_Q96GX1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96GX1
TCTN2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001137322.1 NP_079085.2
ENSEMBL proteins: ENSP00000437644 ENSP00000395171 ENSP00000304941
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
TCTN2 for ontologies About GeneDecksing
TCTN2 Antibody Products:
Assay Products for TCTN2: |
Protein
Domains /
Families
for TCTN2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TCTN2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96GX1ProtoNet protein and cluster: Q96GX1 1 Blocks protein family: IPB002110 Ankyrin repeat signature
UniProtKB/Swiss-Prot: TECT2_HUMAN, Q96GX1Similarity: Belongs to the tectonic family |
Function
for TCTN2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TECT2_HUMAN, Q96GX1Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia andacting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Requiredfor hedgehog signaling transduction (By similarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TCTN2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTN2 |
Animal Models:
Mouse knock-out Tctn2tm1.1Reit for TCTN2
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tctn2):
TCTN2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TCTN2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TCTN2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/13 Interacting proteins for TCTN2 (ENSP000003049414) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007224 | smoothened signaling pathway |
ISS | -- | | GO:0042384 | cilium assembly |
ISS | -- | | GO:0060271 | cilium morphogenesis |
ISS | -- |
TCTN2 for ontologies About GeneDecksing
|
Drugs & Compounds
for TCTN2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TCTN2
Search CenterWatch for drugs/clinical trials and news about TCTN2 / TECT2
|
Transcripts
for TCTN2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TCTN2 gene (2 alternative transcripts): NM_001143850.2 NM_024809.4 Unigene Cluster for TCTN2: Tectonic family member 2 Hs.167165 [show with all ESTs]Unigene Representative Sequence: DQ2788704 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000541523 ENST00000426174 ENST00000303372(uc001ufp.3 uc009zya.3)
ENST00000543998
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TCTN2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TCTN2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): TCTN2 (NM_024809) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AK023037.1 AK056924.1 AK127396.1 AK292153.1 BC009112.1 DQ278870.1 6 DOTS entries: DT.102884 DT.40108273 DT.100742129 DT.91744815 DT.91912614 DT.100747084 24/180 AceView cDNA sequences (see all 180): AA989502 BE465357 BX280509 CB117213 AA983190 AW274828 AW850381 CA436808 AW850281 AI700211 BI012296 BQ050095 AL701278 BF508078 AW444520 AA341774 NM_012463 BC009112 AA436101 BF439825 AI690142 BQ936928 NM_024809 AI261281
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for TCTN2 About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TCTN2
|
Expression
for TCTN2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TCTN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGGCTGTA
About this image
See TCTN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TCTN2
SOURCE GeneReport for Unigene cluster: Hs.167165
SABiosciences Custom PCR Arrays for TCTN2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TCTN2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TCTN2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCTN2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCTN2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTN2 |
Orthologs
for TCTN2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for TCTN2 gene from 2/13 species (see all 13) About this table
ENSEMBL Gene Tree for TCTN2 (if available)
TreeFam Gene Tree for TCTN2 (if available) |
Paralogs
for TCTN2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TCTN2 gene
- TCTN12 TCTN32
TCTN2 for paralogs About GeneDecksing
|
Genomic Variants
for TCTN2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TCTN2 (124155660 - 124192948 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TCTN2
4 CNVs: 8737 48974 37671 2998
Human Gene Mutation Database (HGMD): TCTN2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCTN2 |
|
Disorders
/ Diseases
for TCTN2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TCTN2 for disorders About GeneDecksing
OMIM gene information: 613846
OMIM disorders: --
UniProtKB/Swiss-Prot: TECT2_HUMAN, Q96GX1
Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8) [MIM:613885]. A disorder characterized by acombination of renal cysts and variably associated features including developmental anomalies of the central nervoussystem (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly 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 ischaracterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and anabnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar toothsign). Additional variable features include retinal dystrophy and renal disease
11  diseases for TCTN2: About MalaCardsmeckel syndrome oculomotor apraxia encephalocele encephaloceles
apraxia joubert syndrome cerebellar ataxia polydactyly
ataxia hypotonia hepatitis
Export disorders for TCTN2 gene to outside databases
|
Publications
for TCTN2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TCTN2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TCTN2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. (PubMed id 21462283)1, 2, 3 Shaheen R....Alkuraya F.S. (2011)
- Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1, 2 Sang L.... Jackson P.K. (2011)
- Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PubMed id 16357211)1, 2 Reiter J.F. and Skarnes W.C. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Joubert Syndrome (PubMed id 20301500)1 Parisi M. and Glass I. (1993)
|
External Searches for TCTN2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TCTN2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TCTN2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TCTN2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TCTN2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TCTN2 gene:
Search GeneIP for patents involving TCTN2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TCTN2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for TCTN2 | | OriGene shRNA RFP for TCTN2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TCTN2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TCTN2 | | | OriGene Protein Over-expression Lysate for TCTN2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TCTN2 | | OriGene 3'-UTR Clone for TCTN2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TCTN2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TCTN2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for TCTN2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTN2 |
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