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TEKT2 Gene

protein-coding   GIFtS: 50
GCID: GC01P036549

Tektin 2 (Testicular)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tektin 2 (Testicular)1 2     tektin-22
Testicular Tektin B1-Like Protein2 3     tektin-B12
TEKTB12 3     Tektin-B13
TEKTIN-T2     Tektin-t3
h-tektin-t2     Testicular Tektin3

External Ids:    HGNC: 117251   Entrez Gene: 272852   Ensembl: ENSG000000928507   OMIM: 6089535   UniProtKB: Q9UIF33   

Export aliases for TEKT2 gene to outside databases

Previous GC identifers: GC01P036371 GC01P035605 GC01P035976 GC01P035977 GC01P036218 GC01P034666


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TEKT2 Gene:
This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins
that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the
testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in
spermatogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for TEKT2 Gene:
TEKT2 (tektin 2 (testicular)) is a protein-coding gene. Diseases associated with TEKT2 include primary ciliary dyskinesia, and male infertility. An important paralog of this gene is ENSG00000215615.

UniProtKB/Swiss-Prot: TEKT2_HUMAN, Q9UIF3
Function: Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or
attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous
polymers in the walls of ciliary and flagellar microtubules (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TEKT2 gene promoter:
         HOXA9   HOXA9B   AREB6   AML1a   HTF   FOXO4   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTEKT2 promoter sequence
   Search Chromatin IP Primers for TEKT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TEKT2


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

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

TEKT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TEKT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P036549:  view genomic region     (about GC identifiers)

Start:
36,549,676 bp from pter      End:
36,553,876 bp from pter
Size:
4,201 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TEKT2_HUMAN, Q9UIF3 (See protein sequence)
Recommended Name: Tektin-2  
Size: 430 amino acids; 49672 Da
Secondary accessions: A6NIS6 O60638

Explore the universe of human proteins at neXtProt for TEKT2: NX_Q9UIF3

Explore proteomics data for TEKT2 at MOPED

Post-translational modifications: 

  • Tyrosine phosphorylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TEKT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055281.2  
    ENSEMBL proteins: 
     ENSP00000207457   ENSP00000434183   ENSP00000432793  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000435 Tektin

    Graphical View of Domain Structure for InterPro Entry Q9UIF3

    ProtoNet protein and cluster: Q9UIF3

    1 Blocks protein domain: IPB000435 Tektin signature

    UniProtKB/Swiss-Prot: TEKT2_HUMAN, Q9UIF3
    Similarity: Belongs to the tektin family


    TEKT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TEKT2_HUMAN, Q9UIF3
    Function: Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or
    attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous
    polymers in the walls of ciliary and flagellar microtubules (By similarity)

    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tekt2):

     reproductive system  respiratory system 

    TEKT2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TEKT2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TEKT2_HUMAN, Q9UIF3: Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm,
    cytoskeleton, flagellum axoneme. Note=In sperm, observed in a discontinuous punctate pattern in the flagellum and
    in the postacrosomal head region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    nucleus2
    cytosol1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0005929cilium IEA--

    TEKT2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TEKT2
    Interactions:

        Search GeneGlobe Interaction Network for TEKT2

    Selected Interacting proteins for TEKT2 (Q9UIF33) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APODP050903I2D: score=5 
    GNB4Q9HAV03I2D: score=5 
    KLC1Q078663I2D: score=5 
    NDUFS1P283313I2D: score=5 
    RPSAP088653I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0001539cilium or flagellum-dependent cell motility IEA--
    GO:0030030cell projection organization IEA--
    GO:0030317sperm motility IEA--

    TEKT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TEKT2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TEKT2 gene: 
    NM_014466.2  

    Unigene Cluster for TEKT2:

    Tektin 2 (testicular)
    Hs.127111  [show with all ESTs]
    Unigene Representative Sequence: BC022005
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000207457(uc001bzr.3) ENST00000469024(uc001bzs.3) ENST00000473120

    miRNA
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    Additional mRNA sequence: 

    AB033823.1 AF054910.1 AK313610.1 BC022005.1 BC035620.1 

    3 DOTS entries:

    DT.303710  DT.95160621  DT.91753069 

    23 AceView cDNA sequences:

    NM_014466 AB033823 BC035620 BE378408 AF054910 BI827640 BI831314 AW769377 
    BI818864 BG720240 CB250682 BI461321 BQ045351 BU682715 BV183333 BC022005 
    AI922175 BI561479 AI432521 CD697685 CD705666 AA936586 T78294 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TEKT2 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^
    SP1:              -     -     -     -     -     -     -                             -     -                                                                     
    SP2:              -     -     -     -     -     -     -                             -     -     -                                                               
    SP3:                    -     -     -     -     -     -                             -     -                                                                     
    SP4:                                            -     -                             -                                                                           
    SP5:                                                  -                             -     -                                                                     

    ExUns: 13
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for TEKT2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TEKT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACGCGGC
    TEKT2 Expression
    About this image


    TEKT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Brain (Nervous System)
             Lateral Ventricle
    TEKT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TEKT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.127111

    UniProtKB/Swiss-Prot: TEKT2_HUMAN, Q9UIF3
    Tissue specificity: Expressed at high levels in testis, trachea and fetal lung, and at lower levels in ovary,
    pituitary, adult lung, fetal brain and fetal kidney

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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TEKT2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tekt21 , 5 tektin 21, 5 83.92(n)1
    83.92(a)1
      4 (60.37 cM)5
    240841  NM_011902.21  NP_036032.21 
     1263221215 
    chicken
    (Gallus gallus)
    Aves TEKT21 tektin 2 (testicular) 70.39(n)
    69.3(a)
      419627  XM_417774.4  XP_417774.3 
    lizard
    (Anolis carolinensis)
    Reptilia TEKT26
    tektin 2 (testicular)
    75(a)
    1 ↔ 1
    GL343488.1(601164-608571)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC528622 similar to tektin 2 (testicular) 74.82(n)    BC043740.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tekt21 tektin 2 (testicular) 58.35(n)
    52.12(a)
      550629  NM_001017432.3  NP_001017432.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30851 , 3 CG30851 31(a)3
    47.02(n)1
    32.49(a)1
      59C33
    376631  NM_001274220.11  NP_001261149.11 


    ENSEMBL Gene Tree for TEKT2 (if available)
    TreeFam Gene Tree for TEKT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TEKT2 gene
    ENSG000002156152  TEKT42  TEKT52  ENSG000002157502  TEKT12  TEKT32  
    4 SIMAP similar genes for TEKT2 using alignment to 4 protein entries:     TEKT2_HUMAN (see all proteins):
    TEKT5    TEKT1    TEKT4    TEKT3

    TEKT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TEKT2 (see all 156)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887293091,2
    --36547935(+) AGAGTA/GTCCTC 1 -- us2k10--------
    rs37540711,2
    C,F,A--36548081(+) TAGAAA/GTACTA 1 -- us2k15Minor allele frequency- G:0.15NA WA CSA EA 244
    rs1815318501,2
    --36548084(+) AAATAC/TTAGGC 1 -- us2k10--------
    rs1433835091,2
    --36548138(+) TTTTTC/TCCCTT 1 -- us2k10--------
    rs1127728401,2
    F--36548237(+) GTCTCA/C/GTTCTG 1 -- us2k11CSA 2
    rs766727511,2
    C,F--36548266(+) AGAGGC/TGTGTT 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs15556531,2
    C,F,A--36548287(-) CGGAGG/TTTGCA 1 -- us2k17Minor allele frequency- T:0.37EA NA CSA 182
    rs37540731,2
    C--36548291(+) ACCTCC/TGCCTC 1 -- us2k13Minor allele frequency- T:0.14NA EA 124
    rs37540741,2
    C,F,A,H--36548354(+) GCGTGT/CGCCAC 1 -- us2k116Minor allele frequency- C:0.25EA NS NA CSA WA 1820
    rs773571611,2
    F--36548380(+) CATACC/TCCAGT 1 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for TEKT2 (36549676 - 36553876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TEKT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669773CNV Deletion23128226
    nsv871804CNV Loss21882294
    nsv834691CNV Loss17160897
    nsv871396CNV Gain21882294

    Human Gene Mutation Database (HGMD): TEKT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TEKT2
    DNA2.0 Custom Variant and Variant Library Synthesis for TEKT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608953    OMIM disorders: --

    5 diseases for TEKT2:    
    About MalaCards
    primary ciliary dyskinesia    male infertility    infertility    malaria
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for TEKT2:
    Primary ciliary dyskinesia

    TEKT2 for disorders           About GeneDecksing


    Export disorders for TEKT2 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)
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    PubMed articles for TEKT2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with TEKT2)
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    1. Cloning and characterization of the human tektin-t gene. (PubMed id 12029069)1, 2, 3, 9 Iguchi N....Nishimune Y. (Mol. Hum. Reprod. 2002)
    2. Tektin B1 demonstrates flagellar localization in human sperm. (PubMed id 11751288)1, 2, 3, 9 Wolkowicz M.J.... Herr J.C. (Biol. Reprod. 2002)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. 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. (Genome Res. 2004)
    5. A possible association of a human tektin-t gene mutation (A229V) with isolated non-syndromic asthenozoospermia: case report. (PubMed id 18227105)1, 9 Zuccarello D....Foresta C. (Hum. Reprod. 2008)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    7. Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein function. (PubMed id 15340058)1 Tanaka H....Nishimune Y. (Mol. Cell. Biol. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Tektin B1 from ciliary microtubules: primary structure as deduced from the cDNA sequence and comparison with tektin A1. (PubMed id 8308073)9 Chen R....Linck R.W. (J. Cell. Sci. 1993)
    10. Inhibition of tyrosine phosphorylation of sperm flagellar proteins, outer dense fiber protein-2 and tektin-2, is associated with impaired motility during capacitation of hamster spermatozoa. (PubMed id 19953638)9 Mariappa D....Seshagiri P.B. (Mol. Reprod. Dev. 2010)

    (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)
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    Entrez Gene: 27285 HGNC: 11725 AceView: TEKT2 Ensembl:ENSG00000092850 euGenes: HUgn27285
    ECgene: TEKT2 H-InvDB: TEKT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TEKT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TEKT2 gene:
    Search GeneIP for patents involving TEKT2

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



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