RIPPLY2
entrez
134701
canonical
uniprot
Q5TAB7
canonical
ensembl
ENSG00000203877
resolver
ensp
ENSP00000358703
resolver
genesymbol
RIPPLY2
resolver
genesymbol_syn
C6orf159
resolver
hgnc
HGNC:21390
resolver
uniprot
Q5TAB6
resolver
uniprot_entry
RIPP2_HUMAN
resolver
uniprot_sec
Q5TAB6
resolver
amino_acid_sequence
MENAGGAEGTESGAAACAATDGPTRRAGADSGYAGFWRPWVDAGGKKEEETPNHAAEAMPDGPGMTAASGKLYQFRHPVRLFWPKSKCYDYLYQEAEALLKNFPIQATISFYEDSDSEDEIEDLTCEN
uniprot
proteins
disease_involvement
DISEASE: Spondylocostal dysostosis 6, autosomal recessive (SCDO6) [MIM:616566]: A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269|PubMed:25343988, ECO:0000269|PubMed:33410135, ECO:0000269|PubMed:38097876}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity). {ECO:0000250|UniProtKB:Q2WG76}.
uniprot
proteins
mass_dalton
13906
uniprot
proteins
protein_family
Ripply family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16326386
uniprot
proteins
pubmed
25343988
uniprot
proteins
pubmed
33410135
uniprot
proteins
pubmed
38097876
uniprot
proteins
sequence_length
128
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q2WG80}.
uniprot
proteins