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

Summary

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; determination of left/right symmetry; and post-anal tail morphogenesis. Predicted to be located in nucleoplasm. 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 6. Orthologous to human RIPPLY2 (ripply transcriptional repressor 2). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Targeted (3) 1 citation

General gene information

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Readthrough Gm57850

Readthrough gene: Gm57850, Included gene: Cyb5r4

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
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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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
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