SOX11
entrez
6664
canonical
uniprot
P35716
canonical
ensembl
ENSG00000176887
resolver
ensp
ENSP00000322568
resolver
enst
ENST00000322002
resolver
genesymbol
SOX11
resolver
hgnc
HGNC:11191
resolver
uniprot
Q4ZFV8
resolver
uniprot_entry
SOX11_HUMAN
resolver
uniprot_sec
Q4ZFV8
resolver
amino_acid_sequence
MVQQAESLEAESNLPREALDTEEGEFMACSPVALDESDPDWCKTASGHIKRPMNAFMVWSKIERRKIMEQSPDMHNAEISKRLGKRWKMLKDSEKIPFIREAERLRLKHMADYPDYKYRPRKKPKMDPSAKPSASQSPEKSAAGGGGGSAGGGAGGAKTSKGSSKKCGKLKAPAAAGAKAGAGKAAQSGDYGGAGDDYVLGSLRVSGSGGGGAGKTVKCVFLDEDDDDDDDDDELQLQIKQEPDEEDEEPPHQQLLQPPGQQPSQLLRRYNVAKVPASPTLSSSAESPEGASLYDEVRAGATSGAGGGSRLYYSFKNITKQHPPPLAQPALSPASSRSVSTSSSSSSGSSSGSSGEDADDLMFDLSLNFSQSAHSASEQQLGGGAAAGNLSLSLVDKDLDSFSEGSLGSHFEFPDYCTPELSEMIAGDWLEANFSDLVFTY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) [MIM:615866]: An autosomal dominant disorder characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. {ECO:0000269|PubMed:24886874, ECO:0000269|PubMed:26543203, ECO:0000269|PubMed:28787104, ECO:0000269|PubMed:33086258, ECO:0000269|PubMed:33785884, ECO:0000269|PubMed:35341651, ECO:0000269|PubMed:35642566, ECO:0000269|PubMed:35938035}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity). {ECO:0000250|UniProtKB:Q7M6Y2, ECO:0000269|PubMed:24886874, ECO:0000269|PubMed:26543203}.
uniprot
proteins
mass_dalton
46679
uniprot
proteins
pubmed
10574465
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
24886874
uniprot
proteins
pubmed
26543203
uniprot
proteins
pubmed
28787104
uniprot
proteins
pubmed
33086258
uniprot
proteins
pubmed
33785884
uniprot
proteins
pubmed
35341651
uniprot
proteins
pubmed
35642566
uniprot
proteins
pubmed
35938035
uniprot
proteins
pubmed
8332506
uniprot
proteins
pubmed
8666406
uniprot
proteins
sequence_length
441
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:24886874, ECO:0000269|PubMed:35938035}.
uniprot
proteins