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TECR Gene

protein-coding   GIFtS: 64
GCID: GC19P014629

Trans-2,3-Enoyl-CoA Reductase

(Previous names: glycoprotein, synaptic 2)
(Previous symbols: SC2, GPSN2)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Trans-2,3-Enoyl-CoA Reductase1 2 3     MRT142 5
GPSN21 2 3 5     Very-Long-Chain Enoyl-CoA Reductase2
SC21 2 3 5     EC 1.3.1.933
TER2 3 5     EC 1.3.18
Glycoprotein, Synaptic 21 2     EC 1.3.1.388
Synaptic Glycoprotein SC22 3     

External Ids:    HGNC: 45511   Entrez Gene: 95242   Ensembl: ENSG000000997977   OMIM: 6100575   UniProtKB: Q9NZ013   
ORGUL members:         

Export aliases for TECR gene to outside databases

Previous GC identifers: GC19P014504 GC19P014641 GC19P014210 GC19P014642


(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 TECR Gene:
This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the
steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4
sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA.
Alternatively spliced transcript variants have been found for this gene.(provided by RefSeq, Apr 2011)

GeneCards Summary for TECR Gene:
TECR (trans-2,3-enoyl-CoA reductase) is a protein-coding gene. Diseases associated with TECR include mental retardation, autosomal recessive 14, and tinea pedis. GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is TECRL.

UniProtKB/Swiss-Prot: TECR_HUMAN, Q9NZ01
Function: Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids

Gene Wiki entry for TECR Gene


(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_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TECR
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTECR promoter sequence
   Search Chromatin IP Primers for TECR

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


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.12

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P014629:  view genomic region     (about GC identifiers)

Start:
14,627,897 bp from pter      End:
14,676,792 bp from pter
Size:
48,896 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: TECR_HUMAN, Q9NZ01 (See protein sequence)
Recommended Name: Very-long-chain enoyl-CoA reductase  
Size: 308 amino acids; 36034 Da
Subunit: Interacts with ELOVL1 and LASS2
1 PDB 3D structure from and Proteopedia for TECR:
2DZJ (3D)    
Secondary accessions: B2RD55 O75350 Q6IBB2 Q9BWK3 Q9Y6P0
Alternative splicing: 2 isoforms:  Q9NZ01-1   Q9NZ01-2   

Explore the universe of human proteins at neXtProt for TECR: NX_Q9NZ01

Explore proteomics data for TECR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys16, Lys22, Lys33, Lys38, Lys67, Lys291
  • Glycosylation2 at Asn164, Asn247
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for TECR (Q9NZ01)
     LRDLRPAGSK  TMPLRNIFKNC  FVHRFSHGTMP 


    See TECR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612510.1  
    ENSEMBL proteins: 
     ENSP00000215567   ENSP00000471341   ENSP00000472697   ENSP00000472114   ENSP00000472504  
     ENSP00000473129   ENSP00000469263   ENSP00000473033   ENSP00000469343   ENSP00000472957  
     ENSP00000397206  
    Reactome Protein details: Q9NZ01

    TECR Human Recombinant Protein Products:

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    Novus Biologicals TECR Protein
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    Cloud-Clone Corp. CLIAs for TECR


    (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:
     IPR001104 3-oxo-5_a-steroid_4-DH_C

    Graphical View of Domain Structure for InterPro Entry Q9NZ01

    ProtoNet protein and cluster: Q9NZ01

    1 Blocks protein domain: IPB001104 3-oxo-5-alpha-steroid 4-dehydrogenase

    UniProtKB/Swiss-Prot: TECR_HUMAN, Q9NZ01
    Similarity: Belongs to the steroid 5-alpha reductase family


    TECR 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: TECR_HUMAN, Q9NZ01
    Function: Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids
    Catalytic activity: A very-long-chain acyl-CoA + NADP(+) = a very-long-chain trans-2,3-dehydroacyl-CoA + NADPH

         Enzyme Numbers (IUBMB): EC 1.3.12 EC 1.3.1.931 EC 1.3.1.382

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors IEA--
         
    TECR for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TECR
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TECR
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    miRNA
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    miRTarBase miRNAs that target TECR:
    hsa-mir-744-5p (MIRT037695), hsa-mir-615-3p (MIRT040058), hsa-mir-193b-3p (MIRT016309)

    Block miRNA regulation of human, mouse, rat TECR using miScript Target Protectors
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TECR

    Cell Line
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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
    TECR_HUMAN, Q9NZ01: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane IDA12482854

    TECR 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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    SuperPaths for TECR About    
    See pathways by source

    SuperPathContained pathways About
    1Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.00
    Synthesis of very long-chain fatty acyl-CoAs0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    Fatty acid elongation0.38
    4Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    5Fatty acid metabolism
    Fatty acid metabolism0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for TECR
        Synthesis of very long-chain fatty acyl-CoAs


    3 Kegg Pathways  (Kegg details for TECR):
        Fatty acid elongation
    Biosynthesis of unsaturated fatty acids
    Fatty acid metabolism


    TECR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TECR
    Interactions:

        Search GeneGlobe Interaction Network for TECR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TECR (Q9NZ013 ENSP000002155674) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0019432triglyceride biosynthetic process TAS--
    GO:0030497fatty acid elongation IDA12482854
    GO:0035338long-chain fatty-acyl-CoA biosynthetic process TAS--
    GO:0042761very long-chain fatty acid biosynthetic process IDA12482854

    TECR 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 TECR

    1 HMDB Compound for TECR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Stearoyl-CoAOctadecanoyl-CoA (see all 16)362-66-3--



    (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 TECR gene (2 alternative transcripts): 
    NM_138501.5  NM_004868.1  

    Unigene Cluster for TECR:

    Trans-2,3-enoyl-CoA reductase
    Hs.515642  [show with all ESTs]
    Unigene Representative Sequence: BC034484
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000600076 ENST00000215567(uc010xns.2 uc002mza.3 uc002mzc.3 uc002mze.3)
    ENST00000598298 ENST00000596073 ENST00000600083 ENST00000598987 ENST00000601652
    ENST00000593637 ENST00000599646 ENST00000594807 ENST00000598333 ENST00000596953
    ENST00000597607 ENST00000596164 ENST00000598715 ENST00000598918 ENST00000594545
    ENST00000601461
    miRNA
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    GenScript: all cDNA clones in your preferred vector: TECR (NM_138501)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TECR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TECR
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    OriGene qPCR primer pairs and template standards for TECR
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TECR
      QuantiTect SYBR Green Assays in human, mouse, rat TECR
      QuantiFast Probe-based Assays in human, mouse, rat TECR

    Additional mRNA sequence: 

    AF038958.1 AF038959.1 AF222742.1 AK001416.1 AK094087.1 AK299134.1 AK315412.1 BC000174.2 
    BC002425.1 BC005384.1 BC005952.1 BC007801.2 BC013881.2 BC034484.1 BT007179.1 CR456892.1 
    NR_038103.1 NR_038104.1 

    Selected DOTS entries (see all 33):

    DT.448643  DT.92454672  DT.100892565  DT.100769750  DT.92454664  DT.100892521  DT.100892549  DT.100892541 
    DT.95251676  DT.75178763  DT.40290333  DT.92454666  DT.92454699  DT.121494484  DT.100892596  DT.86835741 
    DT.95229193  DT.95266194  DT.100892653  DT.100892659  DT.102843564  DT.121271723  DT.121494576  DT.97842103 

    Selected AceView cDNA sequences (see all 554):

    BF969532 CB111584 BP348042 BG674048 BM475136 CK430293 BQ638607 BF337363 
    BM925111 BM793704 CD675625 BX376244 BE876454 AA330825 BC013881 BU859432 
    CD674004 CB118023 CA443796 BM795422 BX332396 BM826262 BM042092 CR605774 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TECR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:                          -           -           -                                 
    SP2:                          -           -                                             
    SP3:                                                                                    
    SP4:                                                                                    


    ECgene alternative splicing isoforms for TECR

    (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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    TECR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCATCATCC
    TECR Expression
    About this image


    TECR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
    TECR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TECR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515642

    UniProtKB/Swiss-Prot: TECR_HUMAN, Q9NZ01
    Tissue specificity: Expressed in most tissues tested. Highly expressed in skeletal muscle

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    QuantiFast Probe-based Assays in human, mouse, rat TECR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TECR

    (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 eukaryotes.

    Orthologs for TECR gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tecr1 , 5 trans-2,3-enoyl-CoA reductase1, 5 89.72(n)1
    96.75(a)1
      8 (40.22 cM)5
    1065291  NM_134118.51  NP_598879.11 
     835717005 
    chicken
    (Gallus gallus)
    Aves TECR1 trans-2,3-enoyl-CoA reductase 68.53(n)
    75.66(a)
      424491  XM_004936583.1  XP_004936640.1 
    lizard
    (Anolis carolinensis)
    Reptilia TECR6
    trans-2,3-enoyl-CoA reductase
    91(a)
    1 ↔ 1
    2(102710700-102752278)
    African clawed frog
    (Xenopus laevis)
    Amphibia gpsn2-prov2 glycoprotein, synaptic 2 79.2(n)    BC056018.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gpsn22 glycoprotein, synaptic 2 79.13(n)   326954  BC053209.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sc21 Sc2 61.33(n)
    54.33(a)
      38457  NM_139579.3  NP_647836.2 
    worm
    (Caenorhabditis elegans)
    Secernentea art-11 art-1 58.39(n)
    53.64(a)
      174140  NM_063029.5  NP_495430.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TSC13(YDL015C)4
    TSC131
    Enoyl reductase that catalyzes the last step in each more4
    TSC131
    43.53(n)1
    34.71(a)1
      4(426934-426002)4
    8515471, 4  NP_010269.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CER101 CER10 49.52(n)
    42.5(a)
      824702  NM_115394.3  NP_191096.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01500001 Os01g0150000 51.48(n)
    41.1(a)
      4324516  NM_001048565.1  NP_001042030.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TECR gene
    TECRL2  
    2 SIMAP similar genes for TECR using alignment to 10 protein entries:     TECR_HUMAN (see all proteins):
    SRD5A2L2    TECRL

    TECR for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TECR
    PGOHUM00000245619 PGOHUM00000245691


    (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 TECR (see all 861)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659184
    Mental retardation, autosomal recessive 14 (MRT14)4--see VAR_0659182 P L mis40--------
    rs1141210471,2
    C,F--14640378(+) CGGCCT/CGGAGG 3 -- us2k11Minor allele frequency- C:0.11WA 118
    rs351498361,2
    C--14640439(+) CTGTAG/AGGAGC 3 -- ut51 nc-transcript-variant2Minor allele frequency- A:0.00NA 4
    rs1428821911,2
    --14640449(+) CCTGTA/GCTGTG 3 -- ut51 nc-transcript-variant0--------
    rs352582601,2
    C,F--14641037(+) AGAGCA/GGCGAA 3 -- int19Minor allele frequency- G:0.13NA WA EA 548
    rs350701591,2
    C,F--14641054(+) CTTGCT/CTTCTG 3 -- int19Minor allele frequency- C:0.15NA CSA WA EA 369
    rs744302261,2
    C--14641124(+) CACCCA/CCAGCC 3 -- int10--------
    rs1824639911,2
    --14641161(+) CCTAAC/TTTGGG 3 -- int10--------
    rs1406141191,2
    --14641244(+) AACCAA/GTTATC 3 -- int10--------
    rs776715991,2
    C,F--14641296(+) TAAAAT/ATTGTT 3 -- int11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for TECR (14627897 - 14676792 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TECR:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv625e199CNV Deletion23128226

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

    (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: 610057   
    OMIM disorders: 614020  
    UniProtKB/Swiss-Prot: TECR_HUMAN, Q9NZ01
  • Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for TECR:    
    About MalaCards
    mental retardation, autosomal recessive 14    tinea pedis    mental retardation, autosomal recessive 2    labyrinthitis
    oral cancer    mental retardation    alzheimer's disease    neuroblastoma
    multiple myeloma    myeloma    malaria    cerebritis
    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TECR:
    Tinea pedis

    TECR for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: TECR (0 documents)

    Export disorders for TECR 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 TECR gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with TECR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. (PubMed id 12482854)1, 2, 3 Moon Y.-A. and Horton J.D. (J. Biol. Chem. 2003)
    2. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. (PubMed id 21212097)1, 2 Caliskan M.... Ober C. (Hum. Mol. Genet. 2011)
    4. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PubMed id 20937905)1, 2 Ohno Y.... Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Mutation for Nonsyndromic Mental Retardation in the trans-2-Enoyl-CoA Reductase TER Gene Involved in Fatty Acid Elongation Impairs the Enzyme Activity and Stability, Leading to Change in Sphingolipid Profile. (PubMed id 24220030)1 Abe K....Kihara A. (J. Biol. Chem. 2013)
    8. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9524 HGNC: 4551 AceView: GPSN2 Ensembl:ENSG00000099797 euGenes: HUgn9524
    ECgene: TECR Kegg: 9524 H-InvDB: TECR

    (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 TECR 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 TECR gene:
    Search GeneIP for patents involving TECR

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



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