NKX2-6
entrez
137814
canonical
uniprot
A6NCS4
canonical
ensembl
ENSG00000180053
resolver
ensp
ENSP00000320089
resolver
enst
ENST00000325017
resolver
genesymbol
NKX2-6
resolver
genesymbol_syn
NKX2F
resolver
hgnc
HGNC:32940
resolver
uniprot_entry
NKX26_HUMAN
resolver
amino_acid_sequence
MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGGGGGDRKLDGSEPPGGPCEAVLEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAPEREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGKPCLGPGPGAPAFPSPYSAAVSPYSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGHGGQNATPQGHLAATLQGVRAW
uniprot
proteins
disease_involvement
DISEASE: Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269|PubMed:15649947, ECO:0000269|PubMed:24421281, ECO:0000269|PubMed:25195019, ECO:0000269|PubMed:25380965}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development. {ECO:0000250|UniProtKB:P43688, ECO:0000269|PubMed:15649947}.
uniprot
proteins
mass_dalton
32121
uniprot
proteins
protein_family
NK-2 homeobox family
uniprot
proteins
pubmed
15146197
uniprot
proteins
pubmed
15649947
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
24421281
uniprot
proteins
pubmed
25195019
uniprot
proteins
pubmed
25380965
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins