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    Ripply2 ripply transcriptional repressor 2 [ Mus musculus (house mouse) ]

    Gene ID: 382089, updated on 12-May-2024

    Summary

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    Official Symbol
    Ripply2provided by MGI
    Official Full Name
    ripply transcriptional repressor 2provided by MGI
    Primary source
    MGI:MGI:2685968
    See related
    Ensembl:ENSMUSG00000047897 AllianceGenome:MGI:2685968
    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
    Gm1122; C030002E08Rik
    Summary
    Involved in somite rostral/caudal axis specification. Acts upstream of or within several processes, including Notch signaling pathway; bone morphogenesis; and post-anal tail morphogenesis. Predicted to be active in nucleus. Is expressed in embryo mesoderm; paraxial mesenchyme; and tail bud. Used to study spondylocostal dysostosis. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Orthologous to human RIPPLY2 (ripply transcriptional repressor 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cerebellum adult (RPKM 2.3), frontal lobe adult (RPKM 1.7) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 E3.1; 9 46.69 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (86897590..86902494)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (87015537..87020441)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene synaptosomal-associated protein 91 Neighboring gene STARR-seq mESC enhancer starr_24841 Neighboring gene STARR-seq mESC enhancer starr_24843 Neighboring gene predicted gene, 39389 Neighboring gene predicted gene, 36539 Neighboring gene STARR-positive B cell enhancer ABC_E2909 Neighboring gene STARR-positive B cell enhancer ABC_E6782 Neighboring gene predicted gene, 57850 Neighboring gene cytochrome b5 reductase 4 Neighboring gene predicted gene 8282

    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. Ripply2 recruits proteasome complex for Tbx6 degradation to define segment border during murine somitogenesis. Zhao W, et al. Elife, 2018 May 15. PMID 29761784, Free PMC Article
    2. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. McInerney-Leo AM, et al. Hum Mol Genet, 2015 Mar 1. PMID 25343988
    3. Two-color in situ hybridization of whole-mount mouse embryos. Biris KK, et al. Methods Mol Biol, 2014. PMID 24318811, Free PMC Article
    4. Ripply2 is essential for precise somite formation during mouse early development. Chan T, et al. FEBS Lett, 2007 Jun 12. PMID 17531978
    5. Hoxb6 can interfere with somitogenesis in the posterior embryo through a mechanism independent of its rib-promoting activity. Casaca A, et al. Development, 2016 Feb 1. PMID 26718008

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The authors succeeded in reproducing in vivo events using a mouse embryonic stem cell induction system, in which Tbx6 degradation occurred via Ripply2.
      Title: Ripply2 recruits proteasome complex for Tbx6 degradation to define segment border during murine somitogenesis.
    2. Compound heterozygous mutations in RIPPLY2 are associated with segmentation defects of the vertebrae, a new gene for this condition.
      Title: Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
    3. Ripply2 represses Tbx6 in a Mesp2-independent manner, which contributes to the accurate segmental border formation.
      Title: Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2.
    4. Ripply2-Mesp2 negative-feedback loop is essential for the periodic generation of the rostro-caudal polarity within a somite.
      Title: The negative regulation of Mesp2 by mouse Ripply2 is required to establish the rostro-caudal patterning within a somite.
    5. conclusion was supported by analyses of Mesp2 KO and Ripply1/2 double KO embryos lacking rostral and caudal properties, respectively
      Title: Metameric pattern of intervertebral disc/vertebral body is generated independently of Mesp2/Ripply-mediated rostro-caudal patterning of somites in the mouse embryo.
    6. Rostro-caudal pattern is established by dynamic interaction of Notch activity with two Mesp2 domains, which are defined in successive segmentation cycles by Notch, Tbx6 and Ripply1/2.
      Title: Analysis of Ripply1/2-deficient mouse embryos reveals a mechanism underlying the rostro-caudal patterning within a somite.
    7. findings show that Ripply2 is expressed in the anterior presomitic mesoderm and that it lies downstream of Wnt3a; data are consistent with Ripply2 functioning as a segment boundary determination gene during mammalian embryogenesis
      Title: Mouse Ripply2 is downstream of Wnt3a and is dynamically expressed during somitogenesis.
    8. Defects in segmentation of the axial skeleton were observed in the ripply2 homozygous mutant mice.
      Title: Ripply2 is essential for precise somite formation during mouse early development.
    9. Compares Ripply proteins in zebrafish, mouse, human, and amphioxus.
      Title: Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Readthrough Gm57850

    Readthrough gene: Gm57850, Included gene: Cyb5r4

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within Notch signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within axis specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within bone morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within post-anal tail morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in somite rostral/caudal axis specification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within somite rostral/caudal axis specification IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in somitogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein ripply2
    Names
    ripply2 homolog

    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_001037907.2 → NP_001032996.1  protein ripply2 isoform 3

      See identical proteins and their annotated locations for NP_001032996.1

      Status: VALIDATED

      Source sequence(s)
      AC156793
      Consensus CDS
      CCDS40715.1
      UniProtKB/Swiss-Prot
      Q2WG76, Q8BNN5
      Related
      ENSMUSP00000055369.5, ENSMUST00000058846.11
      Conserved Domains (1) summary
      pfam14998
      Location:33 → 114
      Ripply; Transcription Regulator

    2. NM_001379242.1 → NP_001366171.1  protein ripply2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC156793
      Conserved Domains (1) summary
      pfam14998
      Location:112 → 133
      Ripply; Transcription Regulator

    3. NM_001379243.1 → NP_001366172.1  protein ripply2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC156793
      Conserved Domains (1) summary
      pfam14998
      Location:112 → 197
      Ripply; Transcription Regulator

    4. NM_001379244.1 → NP_001366173.1  protein ripply2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC156793
      Conserved Domains (1) summary
      pfam14998
      Location:33 → 54
      Ripply; Transcription Regulator

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      86897590..86902494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2WG76.1 GenPept UniProtKB/Swiss-Prot:Q2WG76

    Gene LinkOut

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

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