SIX6
entrez
4990
canonical
uniprot
O95475
canonical
ensembl
ENSG00000184302
resolver
ensp
ENSP00000328596
resolver
enst
ENST00000327720
resolver
genesymbol
SIX6
resolver
genesymbol_syn
OPTX2
resolver
genesymbol_syn
SIX9
resolver
hgnc
HGNC:10892
resolver
uniprot
Q6NT42
resolver
uniprot
Q6P051
resolver
uniprot
Q9P1X8
resolver
uniprot_entry
Q6P051_HUMAN
resolver
uniprot_entry
SIX6_HUMAN
resolver
uniprot_sec
Q6NT42
resolver
uniprot_sec
Q9P1X8
resolver
amino_acid_sequence
MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYRELYHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRHLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGDGTPEVLGVATSPAASLSSKAATSAISITSSDSECDI
uniprot
proteins
disease_involvement
DISEASE: Optic disk anomalies with retinal and/or macular dystrophy (ODRMD) [MIM:212550]: An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. {ECO:0000269|PubMed:23167593}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in eye development.
uniprot
proteins
mass_dalton
27687
uniprot
proteins
protein_family
SIX/Sine oculis homeobox family
uniprot
proteins
pubmed
10381575
uniprot
proteins
pubmed
10512683
uniprot
proteins
pubmed
15014171
uniprot
proteins
pubmed
15266624
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23167593
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins