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

TECTA Gene

protein-coding   GIFtS: 50
GCID: GC11P121007

tectorin alpha


(Previous symbols: DFNA12, DFNA8, DFNB21)
 Explore 7 diseases affiliated with
TECTA via our new
 Human Malady Compendium 
Biological research products
for TECTA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tectorin Alpha1 2
DFNA121 2 5
DFNA81 2 5
DFNB211 2 5
Alpha-Tectorin1

External Ids:    HGNC: 117201   Entrez Gene: 70072   Ensembl: ENSG000001099277   OMIM: 6025745   UniProtKB: O754433   

Export aliases for TECTA gene to outside databases

Previous GC identifers: GC11P122972 GC11P122485 GC11P120511 GC11P120478 GC11P116913


(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 TECTA:
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized
sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the
stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.
Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene
have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of
sensorineural pre-lingual non-syndromic deafness. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TECTA_HUMAN, O75443
Function: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane
is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the
stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the
tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing
sound into electrical signals

Gene Wiki entry for TECTA


(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_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TECTA gene promoter:
         E2F-4   E2F-3a   E2F-5   MEF-2   E2F-2   GATA-2   MEF-2A   E2F   E2F-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTECTA promoter sequence
   Search SABiosciences Chromatin IP Primers for TECTA

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


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

Entrez Gene cytogenetic band: 11q22-q24   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q22-q24

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P121007:  view genomic region     (about GC identifiers)

Start:
120,971,882 bp from pter      End:
121,062,202 bp from pter
Size:
90,321 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: TECTA_HUMAN, O75443 (See protein sequence)
Recommended Name: Alpha-tectorin precursor  
Size: 2155 amino acids; 239527 Da
Subunit: May form homomeric filament after self-association or heteromeric filament after association with
beta-tectorin. Interacts with CEACAM16
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (Probable). Secreted, extracellular
space, extracellular matrix. Note=Found in the non-collagenous matrix of the tectorial membrane (By similarity)

Explore the universe of human proteins at neXtProt for TECTA: NX_O75443

Post-translational modifications:

  • The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are
  • synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical
    surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75443

  • TECTA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005413.2  
    ENSEMBL proteins: 
     ENSP00000376543   ENSP00000264037  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005886plasma membrane IEA--
    GO:0031225anchored to membrane IEA--


    TECTA for ontologies           About GeneDecksing



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

    TECTA for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR014853 Unchr_dom_Cys-rich
     IPR006552 VWC_out
     IPR017977 ZP_dom_CS
     IPR003886 Nidogen_extracell_dom
     IPR002919 TIL_dom

    Graphical View of Domain Structure for InterPro Entry O75443

    ProtoNet protein and cluster: O75443

    5/7 Blocks protein families (see all 7):
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001007 von Willebrand factor
    IPB001507 Endoglin/CD105 antigen
    IPB001846 Von Willebrand factor
    IPB002919 Trypsin inhibitor-like


    UniProtKB/Swiss-Prot: TECTA_HUMAN, O75443
    Domain: Zona pellucida domain may enable to form filaments
    Similarity: Contains 1 NIDO domain
    Similarity: Contains 3 TIL (trypsin inhibitory-like) domains
    Similarity: Contains 1 VWFC domain
    Similarity: Contains 4 VWFD domains
    Similarity: Contains 1 ZP domain


    (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: TECTA_HUMAN, O75443
    Function: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane
    is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the
    stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the
    tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing
    sound into electrical signals

         Genatlas biochemistry entry for TECTA:
    alpha tectorin,239kDa,non collagenous component of tectorial extracellular matrix membrane of the inner ear

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent ----
    GO:0005515protein binding ----


    TECTA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Tectatm1Gpr for TECTA
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tecta):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    TECTA 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 TECTA

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion IEA--
    GO:0007605sensory perception of sound IEA--


    TECTA 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

    TECTA for compounds           About GeneDecksing

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

    Browse Tocris compounds for TECTA
    1 Novoseek chemical compound relationship for TECTA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 9.06 2 15319541 (1), 10987647 (1)

    Search CenterWatch for drugs/clinical trials and news about TECTA 

    (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,
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    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 TECTA gene: 
    NM_005422.2  

    Unigene Cluster for TECTA:

    Tectorin alpha
    Hs.248162  [show with all ESTs]
    Unigene Representative Sequence: NM_005422
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392793 ENST00000478058 ENST00000264037(uc010rzo.2)

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    Additional cDNA sequence: AF143331.1 

    3 DOTS entries:

    DT.40217927  DT.307552  DT.40221143 

    15 AceView cDNA sequences:

    NM_005422 AA889017 AA782076 T86051 AW001605 BG944068 BX110584 AF143331 
    BI828832 AA400801 BM994412 R84585 AA393625 T86996 AW129644 

    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

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

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

    About this image

    TECTA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TECTA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TECTA

    SOURCE GeneReport for Unigene cluster: Hs.248162
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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TECTA gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TECTA1 tectorin alpha 74.78(n)
    75.55(a)
      395686  NM_204873.1  NP_990204.1 
    lizard
    (Anolis carolinensis)
    Reptilia TECTA6
    --
    81(a)
    1 ↔ 1
    LGa(2148059-2209040)
    African clawed frog
    (Xenopus laevis)
    Amphibia ID142 ID14 protein 69.86(n)    AY363162.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.184082 Transcribed sequence with moderate similarity to protein more 74.89(n)    BQ284238.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TECTA gene
    MUC5AC2  OTOG2  MUC22  OTOGL2  MUC62  MUC5B2  MUC192  FCGBP2  
    VWF2  BMPER2  
    1 SIMAP similar gene for TECTA using alignment to 2 protein entries:     TECTA_HUMAN (see all proteins):
    GP2

    TECTA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TECTA
    PGOHUM00000234670


    (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

    10/1754 NCBI SNPs in TECTA are shown (see all 1754    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219090611,2
    Cpathogenic128252073(+) GACAGC/G/TGCACC 3 R G C mis10--------
    rs735994501,2
    C,--116912025(+) CTTACC/TTGTCT 1 -- us2k12Minor allele frequency- T:0.10WA 120
    rs788307941,2
    F,--116912178(+) TGGCTT/CAATAT 1 -- us2k11Minor allele frequency- C:0.04NA 120
    rs172458101,2
    C,F,H,--116912227(+) GTGACA/GTTTTT 1 -- us2k18Minor allele frequency- G:0.02NA NS EA 678
    rs1133239211,2
    --116912317(+) CGGCAT/ACTTCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs748694741,2
    --116912391(+) TTTAAC/TATGTG 1 -- us2k10--------
    rs781870711,2
    --116912415(+) CATATA/GTACTT 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1137352871,2
    C,--116912565(+) TCATGG/ATCTAG 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs79246861,2
    C,F,H,--116912584(+) TTGGGT/CGATGT 1 -- us2k111Minor allele frequency- C:0.09NS EA NA WA 1210
    rs79382721,2
    C,--116912609(+) CGTCCG/ATGTTC 1 -- us2k12Minor allele frequency- A:0.14WA 120

    HapMap Linkage Disequilibrium report for TECTA (120971882 - 121062202 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TECTA
         1 CNV: 71387
    Human Gene Mutation Database (HGMD): TECTA

    Locus Specific Mutation Databases (LSDB): TECTA

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TECTA for disorders           About GeneDecksing

    OMIM gene information: 602574   
    OMIM disorders: 601543  603629  
    UniProtKB/Swiss-Prot: TECTA_HUMAN, O75443
  • Defects in TECTA are the cause of deafness autosomal dominant type 12 (DFNA12) [MIM:601543]; also known as
  • DFNA8. DFNA12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural
    receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information
  • Defects in TECTA are the cause of deafness autosomal recessive type 21 (DFNB21) [MIM:603629]

  • 7 diseases for TECTA:    About MalaCards
    deafness, autosomal dominant 8/12    deafness, autosomal recessive 21    autosomal dominant nonsyndromic deafness    nonsyndromic deafness
    sensorineural hearing loss    hearing loss    scotoma

    2 diseases from the University of Copenhagen DISEASES database for TECTA:
    Nonsyndromic deafness     Sensorineural hearing loss

    3 Novoseek disease relationships for TECTA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfna8 99.2 16 17136632 (3), 18575463 (2), 9763681 (2), 16718611 (2) (see all 9)
    dfna12 98.4 10 9503015 (2), 15319541 (1), 9590290 (1), 10196713 (1) (see all 5)
    dfnb2 90.3 1 11101839 (1)

    Genetic Association Database (GAD): TECTA
    Human Genome Epidemiology (HuGE) Navigator: TECTA (2 documents)

    Export disorders for TECTA 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 TECTA gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with TECTA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. (PubMed id 12162770)1, 2, 4, 9 Iwasaki S.... Hoshino T. (2002)
    2. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. (PubMed id 9590290)1, 2, 3, 9 Verhoeven K.... Van Camp G. (1998)
    3. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. (PubMed id 15319541)1, 2, 9 Pfister M....Kupka S. (2004)
    4. Alpha-tectorin involvement in hearing disabilities: one gene -- two phenotypes. (PubMed id 10987647)1, 2, 9 Balciuniene J.... Jazin E.E. (1999)
    5. Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss. (PubMed id 10196713)1, 2, 9 Alloisio N.... Lina-Granade G. (1999)
    6. Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (PubMed id 9503015)1, 3, 9 Hughes D.C....Richardson G.P. (1998)
    7. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. (PubMed id 16718611)1, 2, 9 Plantinga R.F....Cremers C.W. (2006)
    8. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. (PubMed id 9949200)1, 2, 9 Mustapha M.... Petit C. (1999)
    9. A cysteine substitution in the zona pellucida domain of alpha- tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. (PubMed id 11333869)1, 2, 9 Moreno-Pelayo M.A.... Moreno F. (2001)
    10. Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. (PubMed id 17661817)1, 2, 9 Meyer N.C....Smith R.J. (2007)

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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: 7007 HGNC: 11720 AceView: TECTA Ensembl:ENSG00000109927 euGenes: HUgn7007
    ECgene: TECTA H-InvDB: TECTA

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for TECTA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TECTA

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