RIPPLY2 ripply transcriptional repressor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIPPLY2provided by HGNC
Official Full Name: ripply transcriptional repressor 2provided by HGNC
Primary source: HGNC:HGNC:21390
See related: Ensembl:ENSG00000203877 MIM:609891; AllianceGenome:HGNC:21390
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCDO6; C6orf159; dJ237I15.1
Summary: This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression: Biased expression in brain (RPKM 3.1), adrenal (RPKM 0.4) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (83853229..83857515)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (85076512..85080798)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (84562948..84567234)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Title: Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Title: Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Novel cleft susceptibility genes in chromosome 6q.
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.
Functional analysis of the mouse Ripply2 ortholog.
Title: Ripply2 is essential for precise somite formation during mouse early development.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spondylocostal dysostosis 6, autosomal recessive MedGen: C4225279 OMIM: 616566 GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough RIPPLY2-CYB5R4

Readthrough gene: RIPPLY2-CYB5R4, Included gene: CYB5R4

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
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
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in somite rostral/caudal axis specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in somitogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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.

Genomic

NG_046722.1 RefSeqGene

Range

5095..9250

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001009994.3 → NP_001009994.1 protein ripply2 isoform 1

See identical proteins and their annotated locations for NP_001009994.1

Status: REVIEWED

Source sequence(s)

AL139232

Consensus CDS

CCDS34493.1

UniProtKB/Swiss-Prot

Q5TAB6, Q5TAB7

Related

ENSP00000358703.1, ENST00000369689.6

Conserved Domains (1) summary

pfam14998
Location:36 → 121

Ripply; Transcription Regulator
NM_001400899.1 → NP_001387828.1 protein ripply2 isoform 2

Status: REVIEWED

Source sequence(s)

AL139232
NM_001400900.1 → NP_001387829.1 protein ripply2 isoform 3

Status: REVIEWED

Source sequence(s)

AL139232

RNA

NR_103525.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' exon structure. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AI279191, BM782014

Related

ENST00000369687.2
NR_174622.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL139232