TBX6
entrez
6911
canonical
uniprot
O95947
canonical
ensembl
ENSG00000149922
resolver
ensp
ENSP00000279386
resolver
ensp
ENSP00000378650
resolver
ensp
ENSP00000601644
resolver
genesymbol
TBX6
resolver
hgnc
HGNC:11605
resolver
uniprot
Q8TAS4
resolver
uniprot
Q9HA44
resolver
uniprot_entry
TBX6_HUMAN
resolver
uniprot_sec
Q8TAS4
resolver
uniprot_sec
Q9HA44
resolver
amino_acid_sequence
MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPSAPEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEPSGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLILHSMHKYQPRIHLVRAAQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIRESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPAAPPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY
uniprot
proteins
disease_involvement
DISEASE: Spondylocostal dysostosis 5 (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:23335591, ECO:0000269|PubMed:25564734}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
47045
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the complex made of the adapter SMAD6 and the E3 ligase SMURF1, leading to proteasomal degradation. {ECO:0000250|UniProtKB:Q13950}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19561075
uniprot
proteins
pubmed
23335591
uniprot
proteins
pubmed
25564734
uniprot
proteins
pubmed
28054739
uniprot
proteins
pubmed
9888994
uniprot
proteins
pubmed
9933572
uniprot
proteins
sequence_length
436
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
uniprot
proteins