MYF5
entrez
4617
canonical
uniprot
P13349
canonical
ensembl
ENSG00000111049
resolver
ensp
ENSP00000228644
resolver
enst
ENST00000228644
resolver
genesymbol
MYF5
resolver
genesymbol_syn
BHLHC2
resolver
hgnc
HGNC:7565
resolver
uniprot
Q6ISR9
resolver
uniprot_entry
MYF5_HUMAN
resolver
uniprot_sec
Q6ISR9
resolver
amino_acid_sequence
MDVMDGCQFSPSEYFYDGSCIPSPEGEFGDEFVPRVAAFGAHKAELQGSDEDEHVRAPTGHHQAGHCLMWACKACKRKSTTMDRRKAATMRERRRLKKVNQAFETLKRCTTTNPNQRLPKVEILRNAIRYIESLQELLREQVENYYSLPGQSCSEPTSPTSNCSDGMPECNSPVWSRKSSTFDSIYCPDVSNVYATDKNSLSSLDCLSNIVDRITSSEQPGLPLQDLASLSPVASTDSQPATPGASSSRLIYHVL
uniprot
proteins
disease_involvement
DISEASE: Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155]: An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies. {ECO:0000269|PubMed:29887215}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. {ECO:0000269|PubMed:2721498, ECO:0000269|PubMed:29887215}.
uniprot
proteins
mass_dalton
28296
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2721498
uniprot
proteins
pubmed
29887215
uniprot
proteins
sequence_length
255
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29887215}.
uniprot
proteins