SOX11

SOX11
Identifiers
Aliases	SOX11, MRD27, SRY-box 11, CSS9, SRY-box transcription factor 11
External IDs	OMIM: 600898 MGI: 98359 HomoloGene: 37733 GeneCards: SOX11
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.2 Start 5,692,384 bp[1] End 5,701,385 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A2 Start 27,384,263 bp[2] End 27,392,573 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence optic nerve retinal pigment epithelium internal globus pallidus nucleus accumbens hypothalamus medulla oblongata ventral tegmental area entorhinal cortex amniotic fluid Top expressed in medial ganglionic eminence abdominal wall maxillary prominence fossa trigeminal ganglion condyle hand medullary collecting duct external carotid artery primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription coactivator activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific translation factor activity, RNA binding transcription cis-regulatory region binding cis-regulatory region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component cytoplasm nucleus Biological process embryonic skeletal system morphogenesis skeletal system development noradrenergic neuron differentiation positive regulation of lens epithelial cell proliferation cell differentiation cardiac ventricle formation glial cell development regulation of transcription, DNA-templated limb bud formation lung morphogenesis sympathetic nervous system development neural crest cell development kidney development negative regulation of glial cell proliferation soft palate development ventricular septum morphogenesis cornea development in camera-type eye outflow tract morphogenesis positive regulation of ossification negative regulation of transcription by RNA polymerase II negative regulation of cell death transcription by RNA polymerase II eyelid development in camera-type eye negative regulation of gene expression negative regulation of lymphocyte proliferation somite development transcription, DNA-templated neuroepithelial cell differentiation regulation of transforming growth factor beta receptor signaling pathway nervous system development positive regulation of transcription, DNA-templated positive regulation of hippo signaling positive regulation of neurogenesis multicellular organism development positive regulation of gene expression positive regulation of osteoblast differentiation lens morphogenesis in camera-type eye negative regulation of transcription regulatory region DNA binding hard palate development positive regulation of neuron differentiation neuron differentiation positive regulation of cell population proliferation spinal cord development positive regulation of BMP signaling pathway glial cell proliferation skeletal muscle cell differentiation embryonic digestive tract morphogenesis oligodendrocyte development cell population proliferation positive regulation of stem cell proliferation neural tube formation positive regulation of hormone secretion positive regulation of transcription by RNA polymerase II closure of optic fissure protein biosynthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6664 20666 Ensembl ENSG00000176887 ENSMUSG00000063632 UniProt P35716 Q7M6Y2 RefSeq (mRNA) NM_003108 NM_009234 RefSeq (protein) NP_003099 NP_033260 Location (UCSC) Chr 2: 5.69 – 5.7 Mb Chr 12: 27.38 – 27.39 Mb PubMed search [3] [4]
Wikidata
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Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.^[5][6][7]

Function

This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family 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 and adult neurogenesis.^[7][8] Tuj1 and Tead2 are suggested as direct target of Sox11.^[9][10][11]

Clinical aspect

Lymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma (cyclin D1 positive and negative) rather than other mature lymphoid neoplasms or normal lymphocytes.^[12]

Mutations in SOX11 are associated with Coffin–Siris syndrome^[13] and mantle cell lymphoma.^[14]

See also

• SOX genes

References

Further reading

External links

• Overview of all the structural information available in the PDB for UniProt: P35716 (Human Transcription factor SOX-11) at the PDBe-KB.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

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