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    Tspear thrombospondin type laminin G domain and EAR repeats [ Mus musculus (house mouse) ]

    Gene ID: 252974, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tspearprovided by MGI
    Official Full Name
    thrombospondin type laminin G domain and EAR repeatsprovided by MGI
    Primary source
    MGI:MGI:2671932
    See related
    Ensembl:ENSMUSG00000069581 AllianceGenome:MGI:2671932
    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
    ORF65; Tnep1; TSP-EAR; C330046G03Rik
    Summary
    Acts upstream of or within Notch signaling pathway and hair cycle process. Located in cell surface; ciliary membrane; and stereocilium. Is expressed in several structures, including genitourinary system; gut; nervous system; sensory organ; and tooth. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 98; ectodermal dysplasia 14; and tooth agenesis. Orthologous to human TSPEAR (thrombospondin type laminin G domain and EAR repeats). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Tspear in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (77521942..77722844)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (77686108..77886994)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L15 pseudogene Neighboring gene keratin associated protein 10-33 Neighboring gene predicted gene, 48160 Neighboring gene keratin associated protein 10-28 Neighboring gene keratin associated protein 12-23 Neighboring gene keratin associated protein 12-22 Neighboring gene keratin associated protein 12-21 Neighboring gene keratin associated protein 12-1 Neighboring gene keratin associated protein 12-20 Neighboring gene keratin associated protein 12-24 Neighboring gene keratin associated protein 10-32 Neighboring gene keratin associated protein 10-30 Neighboring gene keratin associated protein 10-21 Neighboring gene keratin associated protein 10-22 Neighboring gene keratin associated protein 10-26 Neighboring gene keratin associated protein 10-23 Neighboring gene keratin associated protein 10-25 Neighboring gene keratin associated protein 10-29 Neighboring gene keratin associated protein 10-34 Neighboring gene keratin associated protein 10-27 Neighboring gene keratin associated protein 10-20 Neighboring gene keratin associated protein 10-4 Neighboring gene keratin associated protein 10-10 Neighboring gene keratin associated protein 10-35 Neighboring gene keratin associated protein 10-31 Neighboring gene keratin associated protein 10-24 Neighboring gene RIKEN cDNA 1700009J07 gene Neighboring gene leucine rich repeat containing 3

    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. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Delmaghani S, et al. Hum Mol Genet, 2012 Sep 1. PMID 22678063
    2. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. Peled A, et al. PLoS Genet, 2016 Oct. PMID 27736875, Free PMC Article
    3. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Staub E, et al. Trends Biochem Sci, 2002 Sep. PMID 12217514
    4. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. Jackson A, et al. HGG Adv, 2023 Apr 13. PMID 37009414, Free PMC Article
    5. A gene expression map of human chromosome 21 orthologues in the mouse. Gitton Y, et al. Nature, 2002 Dec 5. PMID 12466855

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
      Title: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
    2. using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter
      Title: Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
    3. TSPEAR, cause disorders with auditory features: epilepsy, which can include auditory features in humans; audiogenic seizures in animals; and/or hearing impairments in humans and mice.
      Title: Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    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
    acts_upstream_of_or_within Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hair cycle process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Notch signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tooth mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tooth mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    thrombospondin-type laminin G domain and EAR repeat-containing protein
    Names
    thrombospondin N-terminal domain/EPTP protein 1
    thrombospondin-type laminin G domain and EAR repeats protein

    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_001287074.1 → NP_001274003.1  thrombospondin-type laminin G domain and EAR repeat-containing protein precursor

      See identical proteins and their annotated locations for NP_001274003.1

      Status: VALIDATED

      Source sequence(s)
      JQ815565
      Consensus CDS
      CCDS83718.1
      UniProtKB/Swiss-Prot
      J3S6Y1, Q8BUQ8, Q8K4Y9
      Related
      ENSMUSP00000090020.4, ENSMUST00000092366.4
      Conserved Domains (2) summary
      pfam03736
      Location:413 → 460
      EPTP; EPTP domain
      cl22861
      Location:84 → 223
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      77521942..77722844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513653.2 → XP_006513716.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X1

      Conserved Domains (2) summary
      pfam03736
      Location:362 → 407
      EPTP; EPTP domain
      cl22861
      Location:46 → 223
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    2. XM_017313941.2 → XP_017169430.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X3

      Conserved Domains (2) summary
      pfam03736
      Location:362 → 384
      EPTP; EPTP domain
      cl22861
      Location:46 → 223
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    3. XM_006513656.2 → XP_006513719.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X5

      See identical proteins and their annotated locations for XP_006513719.1

      Related
      ENSMUST00000092368.10
      Conserved Domains (1) summary
      pfam03736
      Location:295 → 340
      EPTP; EPTP domain

    4. XM_036155786.1 → XP_036011679.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X4

      Conserved Domains (1) summary
      pfam03736
      Location:146 → 191
      EPTP; EPTP domain

    5. XM_006513657.4 → XP_006513720.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X5

      See identical proteins and their annotated locations for XP_006513720.1

      Conserved Domains (1) summary
      pfam03736
      Location:295 → 340
      EPTP; EPTP domain

    6. XM_006513654.3 → XP_006513717.1  thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X2

      Conserved Domains (1) summary
      pfam03736
      Location:328 → 373
      EPTP; EPTP domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145855.1: Suppressed sequence

      Description
      NM_145855.1: This RefSeq was temporarily suppressed because the CDS was partial.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    J3S6Y1.1 GenPept UniProtKB/Swiss-Prot:J3S6Y1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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