NODAL
entrez
4838
canonical
uniprot
Q96S42
canonical
ensembl
ENSG00000156574
resolver
ensp
ENSP00000287139
resolver
enst
ENST00000287139
resolver
genesymbol
NODAL
resolver
hgnc
HGNC:7865
resolver
uniprot
Q2M3A5
resolver
uniprot
Q8N4V3
resolver
uniprot_entry
NODAL_HUMAN
resolver
uniprot_sec
Q2M3A5
resolver
uniprot_sec
Q8N4V3
resolver
amino_acid_sequence
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFSFLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]: An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia. {ECO:0000269|PubMed:19064609, ECO:0000269|PubMed:9354794}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for mesoderm formation and axial patterning during embryonic development. {ECO:0000250}.
uniprot
proteins
mass_dalton
39561
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19064609
uniprot
proteins
pubmed
9354794
uniprot
proteins
sequence_length
347
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
uniprot
proteins