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

TECPR2 Gene

protein-coding   GIFtS: 43
GCID: GC14P102829

Tectonin Beta-Propeller Repeat Containing 2

(Previous name: KIAA0329)
(Previous symbol: KIAA0329)
  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)
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

GeneCards Summary for TECPR2 Gene: 
TECPR2 (tectonin beta-propeller repeat containing 2) is a protein-coding gene. Diseases associated with TECPR2 include autosomal recessive spastic paraplegia type 49, and spastic paraparesis. GO annotations related to this gene include protein binding. An important paralog of this gene is HPS5.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for TECPR2 at MOPED 

Post-translational modifications:

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

  • TECPR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TECPR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001166102.1  NP_055659.2  

    ENSEMBL proteins: 
     ENSP00000352510   ENSP00000453671  

    Human Recombinant Protein Products for TECPR2: 
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    Cloud-Clone Corp. CLIAs for TECPR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domains:
    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


    TECPR2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         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


    Animal Models:
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TECPR2


    (Pathways according to EMD Millipore, 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 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 Oct 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-2603996 I2D: score=1 STRING: ENSP00000349785
    GABARAPO951661, 3EBI-2946991,EBI-712001 I2D: score=3 
    GABARAPL1Q9H0R81, 3EBI-2946991,EBI-746969 I2D: score=1 
    GABARAPL2P605201, 3EBI-2946991,EBI-720116 I2D: score=1 
    MAP1LC3BQ9GZQ83I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006914autophagy IEA--
    GO:0008219cell death IEA--

    TECPR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (TCPR2)

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

    (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,
    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, Sirion Biotech, 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
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TECPR2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TECPR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TECPR2

    Additional mRNA 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):

    AA468525 Z28886 AI697725 AI870614 AW006393 BU632244 BM709324 AW954427 
    AW054894 T64533 AA972038 CF130082 AB002295 AI026790 CF553053 BQ773045 
    AW168152 AW271524 AI244826 BQ023338 BE905063 C01547 AI753137 BQ025571 

    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 <intensity>2/3
    CGAP TAG: --
    TECPR2 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 6/14 species (see all 14)    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
    tectonin beta-propeller repeat containing 2
    64(a)
    1 ↔ 1
    GL343232.1(1755039-1800065)
    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
    --
    22(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, 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) 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

    10/2870 SNPs in TECPR2 are shown (see all 2870)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1113717111,2
    C,F--102831336(+) GCTGTC/TACTCA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs37595611,2
    C,F--102831348(+) GATGCA/GTGTTC 2 -- int13Minor allele frequency- G:0.08WA NA EA 358
    rs1430813371,2
    --102831368(+) TGAATA/GTATTC 2 -- int10--------
    rs1907374871,2
    --102831543(+) CACAAA/GGTATA 2 -- int10--------
    rs1830276851,2
    --102831695(+) ATGAAG/TGCTTC 2 -- int10--------
    rs1131740581,2
    C,F--102831731(+) AGGGCA/GCATGT 2 -- int11Minor allele frequency- G:0.03NA 120
    rs284138891,2
    C,F--102831756(+) GAGTGG/AAAAGG 2 -- int16Minor allele frequency- A:0.18NA WA CSA 246
    rs1386142721,2
    --102831784(+) ACATAC/GAGGTT 2 -- int10--------
    rs1147542971,2
    C,F--102831791(+) GGTTAT/CGGTGT 2 -- int11Minor allele frequency- C:0.01WA 118
    rs37595621,2
    C,F,A,H--102831817(+) TGGAAA/GGCTGA 2 -- int15Minor allele frequency- G:0.16NA WA EA 364

    HapMap Linkage Disequilibrium report for TECPR2 (102829300 - 102968818 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for TECPR2 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676040CNV Deletion23128226
    esv2671371CNV Deletion23128226
    esv2670585CNV Deletion23128226
    esv2749150CNV Deletion23290073
    nsv832880CNV Loss17160897
    nsv902255CNV Loss21882294
    nsv522878CNV Loss19592680
    dgv1984n71CNV Loss21882294
    nsv470671CNV Gain18288195
    dgv263n27CNV Gain19166990


    Human Gene Mutation Database (HGMD): TECPR2
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    (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.)
    About This Section
    OMIM gene information: 615000    OMIM disorders: --

    3 diseases for TECPR2:    About MalaCards
    autosomal recessive spastic paraplegia type 49    spastic paraparesis    spasticity


    TECPR2 for disorders           About GeneDecksing


    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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