ROBO4
entrez
54538
canonical
uniprot
Q8WZ75
canonical
ensembl
ENSG00000154133
resolver
ensp
ENSP00000304945
resolver
ensp
ENSP00000437129
resolver
ensp
ENSP00000547878
resolver
enst
ENST00000533054
resolver
genesymbol
ROBO4
resolver
hgnc
HGNC:17985
resolver
uniprot
A8K154
resolver
uniprot
B4DYV8
resolver
uniprot
F6X8I1
resolver
uniprot
Q14DU7
resolver
uniprot
Q8TEG1
resolver
uniprot
Q96JV6
resolver
uniprot
Q9H718
resolver
uniprot
Q9NWJ8
resolver
uniprot_entry
B4DYV8_HUMAN
resolver
uniprot_entry
F6X8I1_HUMAN
resolver
uniprot_entry
ROBO4_HUMAN
resolver
uniprot_sec
A8K154
resolver
uniprot_sec
Q14DU7
resolver
uniprot_sec
Q8TEG1
resolver
uniprot_sec
Q96JV6
resolver
uniprot_sec
Q9H718
resolver
uniprot_sec
Q9NWJ8
resolver
amino_acid_sequence
MGSGGDSLLGGRGSLPLLLLLIMGGMAQDSPPQILVHPQDQLFQGPGPARMSCQASGQPPPTIRWLLNGQPLSMVPPDPHHLLPDGTLLLLQPPARGHAHDGQALSTDLGVYTCEASNRLGTAVSRGARLSVAVLREDFQIQPRDMVAVVGEQFTLECGPPWGHPEPTVSWWKDGKPLALQPGRHTVSGGSLLMARAEKSDEGTYMCVATNSAGHRESRAARVSIQEPQDYTEPVELLAVRIQLENVTLLNPDPAEGPKPRPAVWLSWKVSGPAAPAQSYTALFRTQTAPGGQGAPWAEELLAGWQSAELGGLHWGQDYEFKVRPSSGRARGPDSNVLLLRLPEKVPSAPPQEVTLKPGNGTVFVSWVPPPAENHNGIIRGYQVWSLGNTSLPPANWTVVGEQTQLEIATHMPGSYCVQVAAVTGAGAGEPSRPVCLLLEQAMERATQEPSEHGPWTLEQLRATLKRPEVIATCGVALWLLLLGTAVCIHRRRRARVHLGPGLYRYTSEDAILKHRMDHSDSQWLADTWRSTSGSRDLSSSSSLSSRLGADARDPLDCRRSLLSWDSRSPGVPLLPDTSTFYGSLIAELPSSTPARPSPQVPAVRRLPPQLAQLSSPCSSSDSLCSRRGLSSPRLSLAPAEAWKAKKKQELQHANSSPLLRGSHSLELRACELGNRGSKNLSQSPGAVPQALVAWRALGPKLLSSSNELVTRHLPPAPLFPHETPPTQSQQTQPPVAPQAPSSILLPAAPIPILSPCSPPSPQASSLSGPSPASSRLSSSSLSSLGEDQDSVLTPEEVALCLELSEGEETPRNSVSPMPRAPSPPTTYGYISVPTASEFTDMGRTGGGVGPKGGVLLCPPRPCLTPTPSEGSLANGWGSASEDNAASARASLVSSSDGSFLADAHFARALAVAVDSFGFGLEPREADCVFIDASSPPSPRDEIFLTPNLSLPLWEWRPDWLEDMEVSHTQRLGRGMPPWPPDSQISSQRSQLHCRMPKAGASPVDYS
uniprot
proteins
disease_involvement
DISEASE: Aortic valve disease 3 (AOVD3) [MIM:618496]: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:30455415}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function (PubMed:30455415). {ECO:0000250, ECO:0000269|PubMed:30455415}.
uniprot
proteins
mass_dalton
107457
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
ROBO family
uniprot
proteins
pubmed
11944987
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30455415
uniprot
proteins
sequence_length
1007
uniprot
proteins