SKOR2
entrez
652991
canonical
uniprot
Q2VWA4
canonical
ensembl
ENSG00000215474
resolver
ensp
ENSP00000383255
resolver
ensp
ENSP00000414750
resolver
genesymbol
SKOR2
resolver
genesymbol_syn
CORL2
resolver
genesymbol_syn
FUSSEL18
resolver
hgnc
HGNC:32695
resolver
uniprot
A0A087X0E6
resolver
uniprot_entry
SKOR2_HUMAN
resolver
uniprot_sec
A0A087X0E6
resolver
amino_acid_sequence
MASSPLPGPNDILLASPSSAFQPDTLSQPRPGHANLKPNQVGQVILYGIPIVSLVIDGQERLCLAQISNTLLKNFSYNEIHNRRVALGITCVQCTPVQLEILRRAGAMPISSRRCGMITKREAERLCKSFLGENRPPKLPDNFAFDVSHECAWGCRGSFIPARYNSSRAKCIKCSYCNMYFSPNKFIFHSHRTPDAKYTQPDAANFNSWRRHLKLTDKSPQDELVFAWEDVKAMFNGGSRKRALPQPGAHPACHPLSSVKAAAVAAAAAVAGGGGLLGPHLLGAPPPPPPPPPPLAELAGAPHAHHKRPRFDDDDDSLQEAAVVAAASLSAAAASLSVAAASGGAGTGGGGAGGGCVAGVGVGAGAGAGAGAGAKGPRSYPVIPVPSKGSFGGVLQKFPGCGGLFPHPYTFPAAAAAFSLCHKKEDAGAAAEALGGAGAGGAGAAPKAGLSGLFWPAGRKDAFYPPFCMFWPPRTPGGLPVPTYLQPPPQPPSALGCALGESPALLRQAFLDLAEPGGAAGSAEAAPPPGQPPQVVANGPGSGPPPPAGGAGSRDALFESPPGGSGGDCSAGSTPPADSVAAAGAGAAAAGSGPAGSRVPAPHHPHLLEGRKAGGGSYHHSSAFRPVGGKDDAESLAKLHGASAGAPHSAQTHPHHHHHPHHHHHHHHPPQPPSPLLLLPPQPDEPGSERHHPAPPPPPPPPPPPPLAQHPHHRGLLSPGGTSCCYPSEDSSEDEDDEEEEQEVDVEGHKPPEGEEEEEGRDPDDDEEEDEETEVLLGDPLVGGGRFLQGRGPSEKGSSRDRAPAVAGAFPLGLNSSRLLQEDGKLGDPGSDLPPPPPPPLAPQKASGGGSSSPGSPVHHPSLEEQPSYKDSQKTKENNQVIVSTKDDNSFSDKNKEHSFFITDSDASGGDFWRERSGEHTQETNSPHSLKKDVENMGKEELQKVLFEQIDLRRRLEQEFQVLKGNTSFPVFNNFQDQMKRELAYREEMVQQLQIIPYAASLIRKEKLGAHLSKS
uniprot
proteins
disease_involvement
DISEASE: Valence-Farazi cerebellar ataxia syndrome (VAFCAS) [MIM:621386]: An autosomal recessive disorder characterized by hypotonia, delayed motor development, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging. Additional features may include scoliosis, strabismus, nystagmus, dysarthria, and dysmorphic facial features. Some affected individuals may have mildly impaired intellectual development, speech delay, or learning disabilities. {ECO:0000269|PubMed:29997391, ECO:0000269|PubMed:40890458}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has transcriptional corepressor activity. In the developing cerebellum, it down-regulates BMP signaling resulting in up-regulation of SHH expression in Purkinje cells and promoting their early differentiation. It is also involved in regulating the proliferation of cerebellar granule cell precursors. {ECO:0000250|UniProtKB:A7M7C7}.
uniprot
proteins
mass_dalton
105809
uniprot
proteins
protein_family
SKI family
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16200078
uniprot
proteins
pubmed
29997391
uniprot
proteins
pubmed
40890458
uniprot
proteins
sequence_length
1015
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16200078}. Cytoplasm {ECO:0000269|PubMed:16200078}.
uniprot
proteins