TBX20
entrez
57057
canonical
uniprot
Q9UMR3
canonical
ensembl
ENSG00000164532
resolver
ensp
ENSP00000386170
resolver
enst
ENST00000408931
resolver
genesymbol
TBX20
resolver
hgnc
HGNC:11598
resolver
uniprot
A4D1Y6
resolver
uniprot
Q000T4
resolver
uniprot
Q0IJ70
resolver
uniprot
Q0VAS1
resolver
uniprot
Q9Y2N5
resolver
uniprot_entry
TBX20_HUMAN
resolver
uniprot_sec
A4D1Y6
resolver
uniprot_sec
Q000T4
resolver
uniprot_sec
Q0IJ70
resolver
uniprot_sec
Q0VAS1
resolver
uniprot_sec
Q9Y2N5
resolver
amino_acid_sequence
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV
uniprot
proteins
disease_involvement
DISEASE: Atrial septal defect 4 (ASD4) [MIM:611363]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. {ECO:0000269|PubMed:17668378, ECO:0000269|PubMed:19762328}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart. {ECO:0000250}.
uniprot
proteins
mass_dalton
49232
uniprot
proteins
pubmed
10936053
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17668378
uniprot
proteins
pubmed
19762328
uniprot
proteins
sequence_length
447
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
uniprot
proteins