RIPPLY2 (ripply transcriptional repressor 2)

2010-03-01  

Identity

HGNC
LOCATION
6q14.2
LOCUSID
ALIAS
C6orf159,SCDO6,dJ237I15.1
FUSION GENES

Other Information

Locus ID:

NCBI: 134701
MIM: 609891
HGNC: 21390
Ensembl: ENSG00000203877

Variants:

dbSNP: 134701
ClinVar: 134701
TCGA: ENSG00000203877
COSMIC: RIPPLY2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203877ENST00000369687Q5TAB7
ENSG00000203877ENST00000369689Q5TAB7

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
334101352021Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.2
334101352021Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.2
322122282020Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.3
322122282020Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.3
205115632010Novel cleft susceptibility genes in chromosome 6q.8
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
205115632010Novel cleft susceptibility genes in chromosome 6q.8
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
175319782007Ripply2 is essential for precise somite formation during mouse early development.15
175319782007Ripply2 is essential for precise somite formation during mouse early development.15
163263862005Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites.25
163263862005Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites.25

Citation

Dessen P

RIPPLY2 (ripply transcriptional repressor 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51381/ripply2