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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCTN1 Gene

protein-coding   GIFtS: 44
GCID: GC12P111051

tectonic family member 1

 Explore 7 diseases affiliated with
TCTN1 via our new
 Human Malady Compendium 
Biological research products
for TCTN1
    

(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 11 2
TECT11 2 3 5
JBTS131 2
FLJ211271
Tectonic-11

External Ids:    HGNC: 261131   Entrez Gene: 796002   Ensembl: ENSG000002048527   OMIM: 6098635   UniProtKB: Q2MV583   

Export aliases for TCTN1 gene to outside databases

Previous GC identifers: GC12P109537 GC12P108069


(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 TCTN1:
This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse
is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate
hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TECT1_HUMAN, Q2MV58
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.
Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the
neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full
Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh
levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and
RAB23 (By similarity)




(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_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCTN1 gene promoter:
         PPAR-alpha   ATF-2   Pax-2   Sox9   Pax-2a   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCTN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCTN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCTN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

TCTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCTN1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P111051:  view genomic region     (about GC identifiers)

Start:
111,051,832 bp from pter      End:
111,087,235 bp from pter
Size:
35,404 bases      Orientation:
plus strand

(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: TECT1_HUMAN, Q2MV58 (See protein sequence)
Recommended Name: Tectonic-1 precursor  
Size: 587 amino acids; 63570 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Secreted (Potential). Note=Despite
the presence of a signal sequence, the full length protein might not be secreted (By similarity). Localizes at the
transition zone, a region between the basal body and the ciliary axoneme (By similarity)
Secondary accessions: A8MX11 Q49A60 Q6P5X1 Q6UXW2 Q8NAE9 Q96N72 Q9H798
Alternative splicing: 6 isoforms:  Q2MV58-1   Q2MV58-2   Q2MV58-3   Q2MV58-4   Q2MV58-5   Q2MV58-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCTN1: NX_Q2MV58

TCTN1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (5 alternative transcripts): 
NP_001076006.1  NP_001076007.1  NP_001167446.1  NP_001167447.1  NP_078825.2  

ENSEMBL proteins: 
 ENSP00000448735   ENSP00000436044   ENSP00000380776   ENSP00000436673   ENSP00000380775  
 ENSP00000449261   ENSP00000447295   ENSP00000434852   ENSP00000435643   ENSP00000380779  
 ENSP00000435027   ENSP00000437196   ENSP00000449697   ENSP00000448188   ENSP00000450154  
 ENSP00000446852   ENSP00000446879   ENSP00000448664   ENSP00000448281   ENSP00000366882  

Human Recombinant Protein Products: 
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Novus Biologicals TCTN1 Protein
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Browse ProSpec Recombinant Proteins
Uscn Proteins for TCTN1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005615extracellular space IEA--
GO:0005737cytoplasm IEA--
GO:0005932microtubule basal body IEA--
GO:0035869ciliary transition zone ----


TCTN1 for ontologies           About GeneDecksing



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ThermoFisher Antibody for TCTN1

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GenScript Custom Assay Services for TCTN1
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Uscn ELISAs and CLIAs for TCTN1


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TCTN1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR011677 DUF1619

Graphical View of Domain Structure for InterPro Entry Q2MV58

ProtoNet protein and cluster: Q2MV58

UniProtKB/Swiss-Prot: TECT1_HUMAN, Q2MV58
Similarity: Belongs to the tectonic family


(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: TECT1_HUMAN, Q2MV58
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.
Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the
neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full
Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh
levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and
RAB23 (By similarity)

miRNA
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTN1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----


TCTN1 for ontologies           About GeneDecksing


Animal Models:
     5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tctn1):
 cellular  embryogenesis  limbs/digits/tail  mortality/aging  nervous system 

TCTN1 for phenotypes           About GeneDecksing


(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 TCTN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for TCTN1 (ENSP000003807794) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
InteractantInteraction Details
GeneCardExternal ID(s)
CEP290ENSP000003080214STRING: ENSP00000308021
TCTN2ENSP000003049414STRING: ENSP00000304941
TMEM17ENSP000003350944STRING: ENSP00000335094
TMEM216ENSP000003819504STRING: ENSP00000381950
TMEM231ENSP000003811844STRING: ENSP00000381184
About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001701in utero embryonic development IEA--
GO:0001841neural tube formation IEA--
GO:0007275multicellular organismal development ----
GO:0008589regulation of smoothened signaling pathway IEA--
GO:0021523somatic motor neuron differentiation IEA--


TCTN1 for ontologies           About GeneDecksing



(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 Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TCTN1
Search CenterWatch for drugs/clinical trials and news about TCTN1 / TECT1 

(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 TCTN1 gene (5 alternative transcripts): 
NM_001082537.2  NM_001082538.2  NM_001173975.1  NM_001173976.1  NM_024549.5  

Unigene Cluster for TCTN1:

Tectonic family member 1
Hs.211511  [show with all ESTs]
Unigene Representative Sequence: AK128417
18/33 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
ENST00000550703 ENST00000551590(uc001trn.4 uc009zvs.3 uc001trp.4)
ENST00000552318 ENST00000498072 ENST00000490514(uc001trm.3) ENST00000397656(uc010syc.2)
ENST00000495659(uc001trj.2) ENST00000481720 ENST00000397655 ENST00000546643
ENST00000471804 ENST00000478122(uc010syb.2 uc001tri.3) ENST00000549834
ENST00000547868 ENST00000548095 ENST00000465802 ENST00000489258 ENST00000397659


miRNA
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Inhib. RNA
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Clone
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCTN1

Additional cDNA sequence: 

AK024780.1 AK055891.1 AK092775.1 AK128417.1 AK295514.1 AK301732.1 AY358184.1 BC030993.1 
BC033811.1 BC040113.1 BC062611.1 DQ278868.1 

22 DOTS entries:

DT.75103620  DT.95144753  DT.100819665  DT.40210339  DT.100819661  DT.100819663  DT.100753676  DT.100819660 
DT.91750822  DT.92015288  DT.95308633  DT.95171711  DT.121127327  DT.121127356  DT.121127440  DT.218115 
DT.40118106  DT.40132288  DT.423012  DT.95320836  DT.100029442  DT.100638827 

24/250 AceView cDNA sequences (see all 250):

AW440385 AY358184 AI908462 CR600997 BU949651 AA809902 AA677550 BM712333 
AI421262 AA428455 BX371903 AA437118 BU949937 BC044885 AI625183 AA731411 
BU164966 AW571973 AW005691 CA311763 BE275895 AI217787 BI771691 BC030993 

GeneLoc Exon Structure


(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

TCTN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGACTGGG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See TCTN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TCTN1

SOURCE GeneReport for Unigene cluster: Hs.211511
    SABiosciences Custom PCR Arrays for TCTN1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTN1

(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 TCTN1 gene from 4/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves TCTN11 tectonic family member 1 65.04(n)
60.15(a)
  416870  XM_415162.3  XP_415162.3 
lizard
(Anolis carolinensis)
Reptilia TCTN16
--
47(a)
1 ↔ 1
GL343423.1(357080-372787)
tropical clawed frog
(Xenopus tropicalis)
Amphibia AL880167.22   -- 72.82(n)    AL880167.2 
zebrafish
(Danio rerio)
Actinopterygii tctn16
si:ch211-193e13.1
42(a)
1 ↔ 1
10(7439320-7450380)


ENSEMBL Gene Tree for TCTN1 (if available)
TreeFam Gene Tree for TCTN1 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for TCTN1 gene
TCTN32  TCTN22  
1 SIMAP similar gene for TCTN1 using alignment to 18 protein entries:     TECT1_HUMAN (see all proteins):
TCTN3

TCTN1 for paralogs           About GeneDecksing



(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

10/519 NCBI SNPs in TCTN1 are shown (see all 519    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs792504111,2
--111050051(+) TTACAC/TATTTG 5 -- us2k11Minor allele frequency- T:0.01NA 120
rs747982111,2
--111050182(+) GACATC/TCTTTT 5 -- us2k10--------
rs1427475151,2
--111050256(+) TGCAGC/TGGCAC 5 -- us2k10--------
rs1506953551,2
--111050500(+) TACTTC/TGACAT 5 -- us2k10--------
rs802367571,2
--111050613(+) AAATCG/TTAGGG 5 -- us2k11Minor allele frequency- T:0.01NA 120
rs123021421,2
H--111050616(+) TCGTAG/CGGTCT 5 -- us2k14Minor allele frequency- C:0.00NS EA 420
rs1849949181,2
--111050784(+) TGAGGC/TGGGAG 5 -- us2k10--------
rs1399508651,2
--111050868(+) AAGGTA/TTTAAG 5 -- us2k10--------
rs1448442241,2
--111050925(+) GGCAAC/TCTTGT 5 -- us2k10--------
rs1898774181,2
--111051135(+) GAGTGG/TTGGCT 5 -- us2k10--------

HapMap Linkage Disequilibrium report for TCTN1 (111051832 - 111087235 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for TCTN1: --
Human Gene Mutation Database (HGMD): TCTN1

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCTN1
DNA2.0 Custom Variant and Variant Library Synthesis for TCTN1

(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

TCTN1 for disorders           About GeneDecksing

OMIM gene information: 609863    OMIM disorders: --

UniProtKB/Swiss-Prot: TECT1_HUMAN, Q2MV58
  • Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13) [MIM:614173]. JBTS13 is 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

    7 diseases for TCTN1:    About MalaCards
    oculomotor apraxia    apraxia    joubert syndrome    cerebellar ataxia
    ataxia    hypotonia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TCTN1:
    Polydactyly

    Export disorders for TCTN1 gene to outside databases

    (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 TCTN1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TCTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PubMed id 16357211)1, 2, 3 Reiter J.F. and Skarnes W.C. (2006)
    2. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. (PubMed id 21725307)1, 2 Garcia-Gonzalo F.R....Reiter J.F. (2011)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    7. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    8. 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)
    9. Joubert Syndrome (PubMed id 20301500)1 Parisi M. and Glass I. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79600 HGNC: 26113 AceView: FLJ21127 Ensembl:ENSG00000204852 euGenes: HUgn79600
    ECgene: TCTN1 H-InvDB: TCTN1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TCTN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TCTN1 gene:
    Search GeneIP for patents involving TCTN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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