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

Gene ID: 134701, updated on 18-Aug-2020

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
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

Genomic context

See RIPPLY2 in Genome Data Viewer
Location:
6q14.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (83853266..83857515)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84562985..84567234)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene synaptosome associated protein 91 Neighboring gene uncharacterized LOC105377879 Neighboring gene cytochrome b5 reductase 4 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3721

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CYB5R4

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ossification IEA
Inferred from Electronic Annotation
more info
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
somite rostral/caudal axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
somitogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein ripply2
Names
ripply2 homolog

NCBI Reference Sequences (RefSeq)

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

  1. NG_046722.1 RefSeqGene

    Range
    5001..9250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009994.2NP_001009994.1  protein ripply2

    See identical proteins and their annotated locations for NP_001009994.1

    Status: REVIEWED

    Source sequence(s)
    AI279191, AL139232, AW511485, BC130460
    Consensus CDS
    CCDS34493.1
    UniProtKB/Swiss-Prot
    Q5TAB7
    Related
    ENSP00000358703.1, ENST00000369689.5
    Conserved Domains (1) summary
    pfam14998
    Location:36121
    Ripply; Transcription Regulator

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    83853266..83857515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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