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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RIPPLY2
ripply transcriptional repressor 2
Chromosome 6 Β· 6q14.2
NCBI Gene: 134701Ensembl: ENSG00000203877.9HGNC: HGNC:21390UniProt: Q5TAB7
20PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative regulation of transcription by RNA polymerase IIsomitogenesisembryonic pattern specificationautosomal recessive spondylocostal dysostosisKlippel-Feil syndrome 2, autosomal recessivebrachyolmia, Maroteaux typespondylocostal dysostosis 2, autosomal recessive
✦AI Summary

RIPPLY2 is a transcriptional repressor essential for somitogenesis and vertebral column development. During embryogenesis, RIPPLY2 establishes rostrocaudal polarity within somites and coordinates somite segregation through transcriptional repression mechanisms 1. The protein functions as a negative regulator of RNA polymerase II-mediated transcription and interacts at both gene and protein levels with other somitogenesis regulators, particularly MESP2 and TBX6 1. Biallelic RIPPLY2 mutations cause spondylocostal dysostosis type 6 (SCDO6), an autosomal recessive condition characterized by vertebral segmentation defects 12. Pathogenic variants include nonsense mutations (c.A238T:p.Arg80*) that impair transcriptional repression activity and splice-site variants affecting mRNA processing 1. Clinical manifestations include cervical vertebral malformations, hemivertebrae, scoliosis, and progressive myelopathy with spinal cord compression 32. Early neurological surveillance and intervention are critical, as spinal cord compromise can occur early in life 2. RIPPLY2 also appears in oligogenic inheritance models for congenital scoliosis, suggesting potential interactions with other vertebral segmentation genes 4.

Sources cited
1
RIPPLY2 mutations cause vertebral segmentation defects; protein has transcriptional repression activity; interacts with MESP2 and TBX6
PMID: 25343988
2
RIPPLY2 biallelic variants cause SCDO6 with cervical spine malformation and early-onset spinal cord compromise
PMID: 38097876
3
RIPPLY2 establishes rostrocaudal polarity in somites; compound-heterozygous and homozygous variants cause cervical/thoracic vertebral malformations and myelopathy
PMID: 33410135
4
RIPPLY2 is a TBX6-mediated candidate gene involved in somitogenesis with potential oligogenic inheritance in congenital scoliosis
PMID: 32815649
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
autosomal recessive spondylocostal dysostosisOpen Targets
0.58Moderate
Klippel-Feil syndrome 2, autosomal recessiveOpen Targets
0.27Weak
brachyolmia, Maroteaux typeOpen Targets
0.06Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.06Suggestive
Familial Scheuermann diseaseOpen Targets
0.05Suggestive
Scheuermann diseaseOpen Targets
0.05Suggestive
autosomal dominant brachyolmiaOpen Targets
0.05Suggestive
spondylocamptodactyly syndromeOpen Targets
0.05Suggestive
cervical spondylosisOpen Targets
0.05Suggestive
3-M syndromeOpen Targets
0.05Suggestive
diffuse idiopathic skeletal hyperostosisOpen Targets
0.05Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.05Suggestive
osteomesopyknosisOpen Targets
0.05Suggestive
spondylocostal dysostosis 5Open Targets
0.05Suggestive
spondyloepiphyseal dysplasia tarda, Kohn typeOpen Targets
0.05Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.04Suggestive
familial avascular necrosis of femoral headOpen Targets
0.04Suggestive
Primary basilar impressionOpen Targets
0.04Suggestive
primary basilar invaginationOpen Targets
0.04Suggestive
response to antihypertensive drugOpen Targets
0.04Suggestive
Spondylocostal dysostosis 6, autosomal recessiveUniProt
Pathogenic Variants1
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)Likely pathogenic
Klippel-Feil syndrome 2, autosomal recessive|not provided
β˜…β˜†β˜†β˜†β†’ Residue 100
View on ClinVar β†—
Related Genes
TBX6Protein interaction81%MESP2Protein interaction81%TLE5Protein interaction75%TLE1Protein interaction75%TLE2Protein interaction75%TLE3Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Ovary
5%
Bone Marrow
3%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
RIPPLY2TBX6MESP2TLE5TLE1TLE2TLE3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5TAB7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.15 [0.75–1.76]
RankingsWhere RIPPLY2 stands among ~20K protein-coding genes
  • #14,243of 20,598
    Most Researched20
  • #5,380of 5,498
    Most Pathogenic Variants1
  • #16,384of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedRIPPLY2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
PMID: 25343988
Hum Mol Genet Β· 2015
1.00
2
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
PMID: 38097876
Spine Deform Β· 2024
0.90
3
Association of FCGR2A/FCGR3A variant rs2099684 with Takayasu arteritis in the Han Chinese population.
PMID: 27769046
Oncotarget Β· 2017
0.80
4
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
PMID: 33410135
Clin Genet Β· 2021
0.70
5
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
PMID: 32278351
BMC Musculoskelet Disord Β· 2020
0.60