TBX22
entrez
50945
canonical
uniprot
Q9Y458
canonical
ensembl
ENSG00000122145
resolver
ensembl
ENSG00000277800
resolver
ensp
ENSP00000362390
resolver
ensp
ENSP00000362393
resolver
genesymbol
TBX22
resolver
genesymbol_syn
TBOX22
resolver
hgnc
HGNC:11600
resolver
uniprot
B3KUL8
resolver
uniprot
Q5JZ06
resolver
uniprot
Q96LC0
resolver
uniprot
Q9HBF1
resolver
uniprot_entry
B3KUL8_HUMAN
resolver
uniprot_entry
TBX22_HUMAN
resolver
uniprot_sec
Q5JZ06
resolver
uniprot_sec
Q96LC0
resolver
uniprot_sec
Q9HBF1
resolver
amino_acid_sequence
MALSSRARAFSVEALVGRPSKRKLQDPIQAEQPELREKKGGEEEEERRSSAAGKSEPLEKQPKTEPSTSASSGCGSDSGYGNSSESLEEKDIQMELQGSELWKRFHDIGTEMIITKAGRRMFPSVRVKVKGLDPGKQYHVAIDVVPVDSKRYRYVYHSSQWMVAGNTDHLCIIPRFYVHPDSPCSGETWMRQIISFDRMKLTNNEMDDKGHIILQSMHKYKPRVHVIEQGSSVDLSQIQSLPTEGVKTFSFKETEFTTVTAYQNQQITKLKIERNPFAKGFRDTGRNRGVLDGLLETYPWRPSFTLDFKTFGADTQSGSSGSSPVTSSGGAPSPLNSLLSPLCFSPMFHLPTSSLGMPCPEAYLPNVNLPLCYKICPTNFWQQQPLVLPAPERLASSNSSQSLAPLMMEVPMLSSLGVTNSKSGSSEDSSDQYLQAPNSTNQMLYGLQSPGNIFLPNSITPEALSCSFHPSYDFYRYNFSMPSRLISGSNHLKVNDDSQVSFGEGKCNHVHWYPAINHYL
uniprot
proteins
disease_involvement
DISEASE: Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. {ECO:0000269|PubMed:11559848, ECO:0000269|PubMed:12374769, ECO:0000269|PubMed:14729838}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. {ECO:0000269|PubMed:22784330}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
uniprot
proteins
mass_dalton
57910
uniprot
proteins
pubmed
11024289
uniprot
proteins
pubmed
11559848
uniprot
proteins
pubmed
12374769
uniprot
proteins
pubmed
14729838
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
22784330
uniprot
proteins
pubmed
23033978
uniprot
proteins
sequence_length
520
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
uniprot
proteins