Sox18
entrez
20672
canonical
uniprot
P43680
canonical
ensembl
ENSMUSG00000046470
resolver
ensp
ENSMUSP00000062759
resolver
enst
ENSMUST00000054491
resolver
genesymbol
Sox18
resolver
genesymbol_syn
Sox-18
resolver
uniprot
Q3UND6
resolver
uniprot
Q9EQ73
resolver
uniprot_entry
SOX18_MOUSE
resolver
uniprot_sec
Q3UND6
resolver
uniprot_sec
Q9EQ73
resolver
amino_acid_sequence
MQRSPPGYGAQDDPPSRRDCAWAPGIGAAAEARGLPVTNVSPTSPASPSSLPRSPPRSPESGRYGFGRGERQTADELRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLGKAWKELNTAEKRPFVEEAERLRVQHLRDHPNYKYRPRRKKQARKVRRLEPGLLLPGLVQPSAPPEAFAAASGSARSFRELPTLGAEFDGLGLPTPERSPLDGLEPGEASFFPPPLAPEDCALRAFRAPYAPELARDPSFCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPFPNPLSPPPESPSLEGTEQLEPTADLWADVDLTEFDQYLNCSRTRPDATTLPYHVALAKLGPRAMSCPEESSLISALSDASSAVYYSACISG
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in this protein are the cause of the ragged, ragged-like and opossum phenotypes (PubMed:10742113, PubMed:12748961, PubMed:18931657, PubMed:19429912). In all these, missense mutations give rise to a truncated protein that retains DNA-binding ability, but lacks regions required for transcription activation (PubMed:10742113, PubMed:12748961). Homozygous ragged and ragged-like mice are almost completely naked, display prenatal edema and frequently die in utero or shortly after birth. Heterozygous ragged and ragged-like mice are mostly viable, but have a thin, ragged coat (PubMed:12748961). Homozygous opossum mice display no visible phenotype up to 11.5 dpc (PubMed:19429912). From 12.5 dpc onwards, mutant embryos display enlarged surface microvasculature and severe subcutaneaous edema, followed by vascular rupture and hemorrhage beginning at 13.5 dpc (PubMed:18931657, PubMed:19429912). All die shortly after 14.5 dpc (PubMed:12748961, PubMed:18931657, PubMed:19429912). Heterozygous opossum mice are almost completely naked, display prenatal edema and frequently die in utero or shortly after birth (PubMed:12748961). Heterozygous opossum mice display defects in development and patterning of the lymph vessels (PubMed:18931657). {ECO:0000269|PubMed:10742113, ECO:0000269|PubMed:12748961, ECO:0000269|PubMed:18931657, ECO:0000269|PubMed:19429912}.
uniprot
proteins
function
FUNCTION: Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis (PubMed:10742113, PubMed:12748961, PubMed:18931657, PubMed:19429912, PubMed:26939885, PubMed:7651823). Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers (PubMed:18931657, PubMed:26939885). Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells (PubMed:18931657). Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17 (PubMed:16895970). Interaction with MEF2C enhances transcriptional activation (PubMed:11554755). Besides, required for normal hair development (PubMed:11094083, PubMed:12748961). {ECO:0000269|PubMed:10742113, ECO:0000269|PubMed:11094083, ECO:0000269|PubMed:11554755, ECO:0000269|PubMed:12748961, ECO:0000269|PubMed:16895970, ECO:0000269|PubMed:18931657, ECO:0000269|PubMed:19429912, ECO:0000269|PubMed:26939885, ECO:0000269|PubMed:7651823}.
uniprot
proteins
mass_dalton
40898
uniprot
proteins
pubmed
10742113
uniprot
proteins
pubmed
11094083
uniprot
proteins
pubmed
11130989
uniprot
proteins
pubmed
11554755
uniprot
proteins
pubmed
12748961
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16895970
uniprot
proteins
pubmed
18931657
uniprot
proteins
pubmed
19429912
uniprot
proteins
pubmed
26939885
uniprot
proteins
pubmed
7651823
uniprot
proteins
pubmed
7665083
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:11554755}.
uniprot
proteins