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    Tecpr2 tectonin beta-propeller repeat containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 104859, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tecpr2provided by MGI
    Official Full Name
    tectonin beta-propeller repeat containing 2provided by MGI
    Primary source
    MGI:MGI:2144865
    See related
    Ensembl:ENSMUSG00000021275 AllianceGenome:MGI:2144865
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0297; 4930573I19Rik
    Summary
    Predicted to be involved in protein exit from endoplasmic reticulum. Predicted to be located in cytoplasm. Is expressed in olfactory epithelium. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 49. Orthologous to human TECPR2 (tectonin beta-propeller repeat containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 8.0), frontal lobe adult (RPKM 6.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 F1; 12 60.86 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (110855681..110938828)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (110889243..110972394)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 839 Neighboring gene mitochondrial pyruvate carrier 1, pseudogene Neighboring gene cyclin dependent kinase 2 interacting protein Neighboring gene STARR-positive B cell enhancer ABC_E1157 Neighboring gene ribosomal protein S19, pseudogene 6 Neighboring gene STARR-seq mESC enhancer starr_33311 Neighboring gene ankyrin repeat domain 9 Neighboring gene predicted gene, 51959

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation. Tamim-Yecheskel BC, et al. Autophagy, 2021 Oct. PMID 33218264, Free PMC Article
    2. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    3. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.
      Title: A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein exit from endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein exit from endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    tectonin beta-propeller repeat-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081057.2 → NP_001074526.1  tectonin beta-propeller repeat-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001074526.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 both encode isoform 1.
      Source sequence(s)
      AC101875, AC153152
      Consensus CDS
      CCDS36562.1
      UniProtKB/TrEMBL
      B9EHS4, Q3UH45
      Related
      ENSMUSP00000126749.2, ENSMUST00000169597.9
      Conserved Domains (4) summary
      smart00706
      Location:1360 → 1392
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      COG2319
      Location:36 → 380
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:37 → 73
      7WD40; WD40 repeat [structural motif]
      pfam06462
      Location:1294 → 1322
      Hyd_WA; Propeller

    2. NM_001289510.1 → NP_001276439.1  tectonin beta-propeller repeat-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001276439.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode isoform 1.
      Source sequence(s)
      AK029810, AK147592, AW488496
      Consensus CDS
      CCDS36562.1
      UniProtKB/TrEMBL
      B9EHS4, Q3UH45
      Related
      ENSMUSP00000127949.2, ENSMUST00000165978.3
      Conserved Domains (4) summary
      smart00706
      Location:1360 → 1392
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      COG2319
      Location:36 → 380
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:37 → 73
      7WD40; WD40 repeat [structural motif]
      pfam06462
      Location:1294 → 1322
      Hyd_WA; Propeller

    3. NM_175336.3 → NP_780545.2  tectonin beta-propeller repeat-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_780545.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region that results in use of a downstream translation start. The encoded protein (isoform 2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC101875, AK029810, AW488496, BC145250, CV557670
      UniProtKB/TrEMBL
      Q8CDN4
      Conserved Domains (2) summary
      smart00706
      Location:993 → 1025
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      pfam06462
      Location:927 → 955
      Hyd_WA; Propeller

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      110855681..110938828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515352.4 → XP_006515415.1  tectonin beta-propeller repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006515415.1

      UniProtKB/TrEMBL
      B9EHS4, Q3UH45
      Conserved Domains (4) summary
      smart00706
      Location:1360 → 1392
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      COG2319
      Location:36 → 380
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:37 → 73
      7WD40; WD40 repeat [structural motif]
      pfam06462
      Location:1294 → 1322
      Hyd_WA; Propeller

    2. XM_006515356.4 → XP_006515419.1  tectonin beta-propeller repeat-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006515419.1

      Conserved Domains (2) summary
      smart00706
      Location:993 → 1025
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      pfam06462
      Location:927 → 955
      Hyd_WA; Propeller

    3. XM_006515351.5 → XP_006515414.1  tectonin beta-propeller repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006515414.1

      UniProtKB/TrEMBL
      B9EHS4, Q3UH45
      Conserved Domains (4) summary
      smart00706
      Location:1360 → 1392
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      COG2319
      Location:36 → 380
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:37 → 73
      7WD40; WD40 repeat [structural motif]
      pfam06462
      Location:1294 → 1322
      Hyd_WA; Propeller

    4. XM_006515353.5 → XP_006515416.1  tectonin beta-propeller repeat-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006515416.1

      UniProtKB/TrEMBL
      B9EHS4, Q3UH45
      Conserved Domains (4) summary
      smart00706
      Location:1360 → 1392
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      COG2319
      Location:36 → 380
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:37 → 73
      7WD40; WD40 repeat [structural motif]
      pfam06462
      Location:1294 → 1322
      Hyd_WA; Propeller

    5. XM_006515354.5 → XP_006515417.1  tectonin beta-propeller repeat-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B9EHS4
      Conserved Domains (2) summary
      smart00706
      Location:1221 → 1253
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      pfam06462
      Location:1155 → 1183
      Hyd_WA; Propeller
    Nucleotide Protein Strain
    Heading Accession and Version

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