TBX4
entrez
9496
canonical
uniprot
P57082
canonical
ensembl
ENSG00000121075
resolver
ensp
ENSP00000240335
resolver
ensp
ENSP00000495986
resolver
genesymbol
TBX4
resolver
hgnc
HGNC:11603
resolver
uniprot
A5PKU7
resolver
uniprot
B2RMT1
resolver
uniprot
B7ZLV3
resolver
uniprot_entry
TBX4_HUMAN
resolver
uniprot_sec
A5PKU7
resolver
uniprot_sec
B2RMT1
resolver
uniprot_sec
B7ZLV3
resolver
amino_acid_sequence
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG
uniprot
proteins
disease_involvement
DISEASE: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) [MIM:147891]: An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. {ECO:0000269|PubMed:15106123}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS) [MIM:601360]: An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. {ECO:0000269|PubMed:31761294}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs. {ECO:0000269|PubMed:31761294}.
uniprot
proteins
mass_dalton
60204
uniprot
proteins
pubmed
10945475
uniprot
proteins
pubmed
15106123
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
24038782
uniprot
proteins
pubmed
31761294
uniprot
proteins
sequence_length
545
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
uniprot
proteins