SOX11
Transcription factor SOX-11
Also known as: SOX11_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P35716
- Gene
- SOX11
- Ensembl
- ENSG00000176887
- Chromosome
- 2
- Canonical length
- 441 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Plasma membrane
OverviewNCBI Gene
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
441 residues, UniProt reviewed canonical sequence.
>P35716|SOX11
1 MVQQAESLEA ESNLPREALD TEEGEFMACS PVALDESDPD WCKTASGHIK RPMNAFMVWS
61 KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR EAERLRLKHM ADYPDYKYRP
121 RKKPKMDPSA KPSASQSPEK SAAGGGGGSA GGGAGGAKTS KGSSKKCGKL KAPAAAGAKA
181 GAGKAAQSGD YGGAGDDYVL GSLRVSGSGG GGAGKTVKCV FLDEDDDDDD DDDELQLQIK
241 QEPDEEDEEP PHQQLLQPPG QQPSQLLRRY NVAKVPASPT LSSSAESPEG ASLYDEVRAG
301 ATSGAGGGSR LYYSFKNITK QHPPPLAQPA LSPASSRSVS TSSSSSSGSS SGSSGEDADD
361 LMFDLSLNFS QSAHSASEQQ LGGGAAAGNL SLSLVDKDLD SFSEGSLGSH FEFPDYCTPE
421 LSEMIAGDWL EANFSDLVFT YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SOX11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 2.7 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 2.7 nTPM
- hypothalamus: 1.7 nTPM
- basal ganglia: 1.6 nTPM
- amygdala: 1.2 nTPM
- hippocampal formation: 1 nTPM
- colon: 0.9 nTPM
Single-cell type
- other brain neurons: 19 nCPM
- oligodendrocyte progenitor cells: 16 nCPM
- brain inhibitory neurons: 15 nCPM
- breast secretory cells: 12 nCPM
- breast myoepithelial cells: 10 nCPM
- ependymal cells: 7.3 nCPM
Immune cell
- basophil: 0.7 nTPM
- neutrophil: 0.2 nTPM
- NK-cell: 0.2 nTPM
- non-classical monocyte: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- eosinophil: 0.1 nTPM
Brain region
- hypothalamus: 11 nTPM
- spinal cord: 7.9 nTPM
- white matter: 7.3 nTPM
- midbrain: 7.1 nTPM
- basal ganglia: 6.9 nTPM
- medulla oblongata: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SOX11.
Disease | AllUniProt
Conditions SOX11 is implicated in, by any mechanism.
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) MIM:615866
Disease | GeneticClinVar
86 pathogenic / likely-pathogenic of 448 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
- Inborn genetic diseases
- Hypogonadotropic hypogonadism
- SOX11-related disorder
- Coffin-Siris syndrome 1
Disease | ImmuneIEDB
Conditions an epitope on SOX11 was assayed in.
- narcolepsy B cell
- multiple sclerosis B cell
- peripheral nervous system disease B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.86
- gnomAD missense Z
- 2.26
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- camera-type eye morphogenesis
- closure of optic fissure
- cornea development in camera-type eye
- embryonic digestive tract morphogenesis
- embryonic skeletal system morphogenesis
- eyelid development in camera-type eye
- glial cell proliferation
- hard palate development
- kidney development
- lens morphogenesis in camera-type eye
- lung morphogenesis
- negative regulation of gene expression
- negative regulation of glial cell proliferation
- negative regulation of lymphocyte proliferation
- negative regulation of transcription by RNA polymerase II
- nervous system development
- neuroepithelial cell differentiation
- neuron differentiation
- noradrenergic neuron differentiation
- oligodendrocyte development
- outflow tract morphogenesis
- positive regulation of BMP signaling pathway
- positive regulation of gene expression
- positive regulation of hippo signaling
- positive regulation of hormone secretion
- positive regulation of lens epithelial cell proliferation
- positive regulation of neurogenesis
- positive regulation of neuron differentiation
- positive regulation of ossification
- positive regulation of osteoblast differentiation
- positive regulation of stem cell proliferation
- positive regulation of transcription by RNA polymerase II
- regulation of transforming growth factor beta receptor signaling pathway
- skeletal muscle cell differentiation
- soft palate development
- spinal cord development
- sympathetic nervous system development
- ventricular septum morphogenesis
- negative regulation of transcription regulatory region DNA binding
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SOX11 as an antibody target. Whether an autoantibody or antibody against SOX11 could matter depends on whether native SOX11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SOX11 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SOX11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...