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

TECPR2 Gene

protein-coding   GIFtS: 41
GCID: GC14P102829

tectonin beta-propeller repeat containing 2

(Previous name: KIAA0329 )
(Previous symbol: KIAA0329)
  Search for TECPR2
in our new
 Human Malady Compendium 
Biological research products
for TECPR2
    

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

Aliases
Tectonin Beta-Propeller Repeat Containing 21 2
KIAA03291 2 3
SPG492
Tectonin Beta-Propeller Repeat-Containing Protein 22
KIAA02973
WD Repeat-Containing Protein KIAA0329/KIAA02973

External Ids:    HGNC: 199571   Entrez Gene: 98952   Ensembl: ENSG000001966637   OMIM: 6150005   UniProtKB: O150403   

Export aliases for TECPR2 gene to outside databases

Previous GC identifers: GC14P101901 GC14P083006


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TECPR2 gene promoter:
         SRF   USF1   SRF (504 AA)   USF2   Olf-1   USF-1:USF-2   HEN1   PPAR-gamma1   USF-1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TECPR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TECPR2


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

Entrez Gene cytogenetic band: 14q32.31   Ensembl cytogenetic band:  14q32.31   HGNC cytogenetic band: 14q32.33

TECPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TECPR2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P102829:  view genomic region     (about GC identifiers)

Start:
102,829,300 bp from pter      End:
102,968,818 bp from pter
Size:
139,519 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: TCPR2_HUMAN, O15040 (See protein sequence)
Recommended Name: Tectonin beta-propeller repeat-containing protein 2  
Size: 1411 amino acids; 153848 Da
Sequence caution: Sequence=BAA20787.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A5PKY3 A6NFY9 A7E2X3 H0YMM9 Q9UEG6
Alternative splicing: 2 isoforms:  O15040-1   O15040-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TECPR2: NX_O15040

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15040

  • TECPR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001166102.1  NP_055659.2  

    ENSEMBL proteins: 
     ENSP00000352510   ENSP00000453671  

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

    TECPR2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR006624 Beta-propeller_rpt_TECPR
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry O15040

    ProtoNet protein and cluster: O15040

    2 Blocks protein families:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB006624 Beta-propeller repeat TECPR


    UniProtKB/Swiss-Prot: TCPR2_HUMAN, O15040
    Similarity: Belongs to the WD repeat KIAA0329 family
    Similarity: Contains 6 TECPR repeats
    Similarity: Contains 3 WD repeats


    (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

    miRNA
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    hsa-let-7d hsa-miR-25 hsa-let-7g hsa-miR-374c hsa-miR-124 hsa-miR-4325 hsa-let-7a hsa-miR-330-3p
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

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


    TECPR2 for ontologies           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 TECPR2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5 Interacting proteins for TECPR2 (O150401, 3 ENSP000003525104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3CQ9BXW41, 3, ENSP000003497854EBI-2946991,EBI-2948714 I2D: score=1 STRING: ENSP00000349785
    GABARAPO951661, 3EBI-2946991,EBI-712001 I2D: score=3 
    GABARAPL1Q9H0R81, 3EBI-2946991,EBI-3240381 I2D: score=1 
    GABARAPL2P605201, 3EBI-2946991,EBI-2973440 I2D: score=1 
    MAP1LC3BQ9GZQ83I2D: score=1 
    About this table

    (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 TECPR2
    Search CenterWatch for drugs/clinical trials and news about TECPR2 / TCPR2 

    (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 TECPR2 gene (2 alternative transcripts): 
    NM_001172631.1  NM_014844.3  

    Unigene Cluster for TECPR2:

    Tectonin beta-propeller repeat containing 2
    Hs.195667  [show with all ESTs]
    Unigene Representative Sequence: NM_014844
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359520(uc010txw.2 uc001ylw.2 uc010txx.2) ENST00000561228
    ENST00000558678(uc010awl.3) ENST00000560060 ENST00000557786 ENST00000561099
    ENST00000559124

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate TECPR2 (see all 39):
    hsa-let-7d hsa-miR-25 hsa-let-7g hsa-miR-374c hsa-miR-124 hsa-miR-4325 hsa-let-7a hsa-miR-330-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TECPR2 (see all 4)
    OriGene shRNA RFP: TECPR2
    OriGene siRNA: TECPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TECPR2
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    Additional cDNA sequence: 

    AB002295.1 AB002327.1 AK127721.1 AK296395.1 AK299690.1 BC030791.1 BC136647.1 BC142667.1 
    BC142715.1 BC151230.1 

    7 DOTS entries:

    DT.315306  DT.101982198  DT.108044  DT.97826685  DT.120750215  DT.120750253  DT.91707976 

    24/129 AceView cDNA sequences (see all 129):

    AW054894 AI026790 AW271524 BU632244 CF553053 AI244826 AI753137 AW168152 
    AI870614 AB002295 AI697725 BQ025571 BE905063 AA468525 AI753372 AI914649 
    AW954427 C01547 BQ023338 CF130082 BQ773045 BM709324 AA972038 AW006393 

    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

    TECPR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See TECPR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TECPR2

    SOURCE GeneReport for Unigene cluster: Hs.195667
        SABiosciences Custom PCR Arrays for TECPR2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TECPR2

    (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 animals.

    Orthologs for TECPR2 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tecpr21 , 5 tectonin beta-propeller repeat containing 21, 5 83.03(n)1
    82.7(a)1
      12 (60.86 cM)5
    1048591  NM_001081057.21  NP_001074526.11 
     1108892645 
    chicken
    (Gallus gallus)
    Aves TECPR21 tectonin beta-propeller repeat containing 2 70.54(n)
    73.64(a)
      423468  XM_421376.3  XP_421376.3 
    lizard
    (Anolis carolinensis)
    Reptilia TECPR26
    --
    66(a)
    1 ↔ 1
    GL343232.1(1741665-1789579)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU906194.12   -- 76.06(n)    BU906194.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.253302 Transcribed sequence with weak similarity to protein more 73.58(n)    AL924656.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111416
    --
    20(a)
    1 ↔ 1
    2R(3347936-3350900)


    ENSEMBL Gene Tree for TECPR2 (if available)
    TreeFam Gene Tree for TECPR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TECPR2 gene
    HPS52  

    TECPR2 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

    10/2502 NCBI SNPs in TECPR2 are shown (see all 2502    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1485308171,2
    --102827328(+) GAGACA/GGACCA 5 -- int1 us2k10--------
    rs1417869281,2
    C,--102827411(+) CATGA-/TTAAGT 5 -- us2k1 int10--------
    rs1447346931,2
    --102827459(+) TCCCC-/TTGAGA 5 -- us2k1 int10--------
    rs125866731,2
    C,F,H,--102827643(+) TAGTGC/TGTGAG 5 -- us2k1 int124Minor allele frequency- T:0.27NS EA NA WA 2702
    rs1906048381,2
    --102827684(+) CCAAGA/GTAAGA 5 -- us2k1 int10--------
    rs1831925221,2
    --102827758(+) GATCAC/TGAGGT 5 -- int1 us2k10--------
    rs1428927881,2
    --102827785(+) TCCTGC/GCTAAC 5 -- us2k1 int10--------
    rs1875222021,2
    --102827793(+) AACACA/GGTGAA 5 -- int1 us2k10--------
    rs1908692441,2
    --102827835(+) CAGCCA/GGGCGT 5 -- us2k1 int10--------
    rs1841097341,2
    --102827993(+) CAAAAC/GAAAAC 5 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for TECPR2 (102829300 - 102968818 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for TECPR2
         3 CNVs: 29634 53624 4847
         2 Indels: 60163 66712

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    (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

    TECPR2 for disorders           About MalaCards

    TECPR2 for disorders           About GeneDecksing

    OMIM gene information: 615000    OMIM disorders: --


    Export disorders for TECPR2 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 TECPR2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TECPR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    2. Mutation in TECPR2 reveals a role for autophagy in her editary spastic paraparesis. (PubMed id 23176824)1 Oz-Levi D....Lancet D. (2012)
    3. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9895 HGNC: 19957 AceView: KIAA0329 Ensembl:ENSG00000196663 euGenes: HUgn9895
    ECgene: TECPR2 H-InvDB: TECPR2

    (According to HUGE)
    About This Section
    HUGE: KIAA0329 KIAA0297

    (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 TECPR2 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 TECPR2 gene:
    Search GeneIP for patents involving TECPR2

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



    (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

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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