NKX3-2
entrez
579
canonical
uniprot
P78367
canonical
ensembl
ENSG00000109705
resolver
ensp
ENSP00000371875
resolver
enst
ENST00000382438
resolver
genesymbol
NKX3-2
resolver
genesymbol_syn
BAPX1
resolver
genesymbol_syn
NKX3B
resolver
hgnc
HGNC:951
resolver
uniprot
Q2M2I7
resolver
uniprot_entry
NKX32_HUMAN
resolver
uniprot_sec
Q2M2I7
resolver
amino_acid_sequence
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPAGTRTAAGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSPRTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLAASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPGWALSTCAAAAGTQ
uniprot
proteins
disease_involvement
DISEASE: Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. {ECO:0000269|PubMed:20004766}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
34814
uniprot
proteins
protein_family
NK-3 homeobox family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20004766
uniprot
proteins
pubmed
9256352
uniprot
proteins
pubmed
9344671
uniprot
proteins
pubmed
9426254
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins