Details for: SOX11

Gene ID: 6664

Symbol: SOX11

Ensembl ID: ENSG00000176887

Description: SRY-box transcription factor 11

Associated with

  • Brain development
    (GO:0007420)
  • Camera-type eye morphogenesis
    (GO:0048593)
  • Chromatin
    (GO:0000785)
  • Closure of optic fissure
    (GO:0061386)
  • Cornea development in camera-type eye
    (GO:0061303)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryonic digestive tract morphogenesis
    (GO:0048557)
  • Embryonic skeletal system morphogenesis
    (GO:0048704)
  • Eyelid development in camera-type eye
    (GO:0061029)
  • Glial cell proliferation
    (GO:0014009)
  • Hard palate development
    (GO:0060022)
  • Kidney development
    (GO:0001822)
  • Lens morphogenesis in camera-type eye
    (GO:0002089)
  • Lung morphogenesis
    (GO:0060425)
  • Negative regulation of gene expression
    (GO:0010629)
  • Negative regulation of glial cell proliferation
    (GO:0060253)
  • Negative regulation of lymphocyte proliferation
    (GO:0050672)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Negative regulation of transcription regulatory region dna binding
    (GO:2000678)
  • Nervous system development
    (GO:0007399)
  • Neuroepithelial cell differentiation
    (GO:0060563)
  • Neuron differentiation
    (GO:0030182)
  • Noradrenergic neuron differentiation
    (GO:0003357)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Oligodendrocyte development
    (GO:0014003)
  • Outflow tract morphogenesis
    (GO:0003151)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of bmp signaling pathway
    (GO:0030513)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of hippo signaling
    (GO:0035332)
  • Positive regulation of hormone secretion
    (GO:0046887)
  • Positive regulation of lens epithelial cell proliferation
    (GO:2001111)
  • Positive regulation of neurogenesis
    (GO:0050769)
  • Positive regulation of neuron differentiation
    (GO:0045666)
  • Positive regulation of ossification
    (GO:0045778)
  • Positive regulation of osteoblast differentiation
    (GO:0045669)
  • Positive regulation of stem cell proliferation
    (GO:2000648)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Regulation of transforming growth factor beta receptor signaling pathway
    (GO:0017015)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Skeletal muscle cell differentiation
    (GO:0035914)
  • Soft palate development
    (GO:0060023)
  • Spinal cord development
    (GO:0021510)
  • Sympathetic nervous system development
    (GO:0048485)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Ventricular septum morphogenesis
    (GO:0060412)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 152.4187
    Cell Significance Index: -38.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.6198
    Cell Significance Index: 222.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.9631
    Cell Significance Index: 102.9700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.7437
    Cell Significance Index: 57.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.5340
    Cell Significance Index: 142.2000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 2.1370
    Cell Significance Index: 53.2900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.0016
    Cell Significance Index: 21.7600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.7502
    Cell Significance Index: 41.9800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.4913
    Cell Significance Index: 43.9300
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 1.4690
    Cell Significance Index: 8.3500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.0884
    Cell Significance Index: 16.8400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.6483
    Cell Significance Index: 11.1100
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.5388
    Cell Significance Index: 3.7000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.2981
    Cell Significance Index: 7.2200
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: 0.2695
    Cell Significance Index: 2.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2266
    Cell Significance Index: 156.7100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2172
    Cell Significance Index: 77.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2159
    Cell Significance Index: 25.1600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.0639
    Cell Significance Index: 0.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0260
    Cell Significance Index: 11.4800
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 0.0256
    Cell Significance Index: 0.1500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0056
    Cell Significance Index: -0.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0105
    Cell Significance Index: -3.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0113
    Cell Significance Index: -21.3600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0502
    Cell Significance Index: -92.6500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0531
    Cell Significance Index: -39.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0538
    Cell Significance Index: -40.7300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0555
    Cell Significance Index: -40.7200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0567
    Cell Significance Index: -36.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0600
    Cell Significance Index: -92.4400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0615
    Cell Significance Index: -1.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0680
    Cell Significance Index: -37.1500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0680
    Cell Significance Index: -92.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0692
    Cell Significance Index: -39.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0795
    Cell Significance Index: -36.1000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0941
    Cell Significance Index: -2.0600
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1338
    Cell Significance Index: -0.8400
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1353
    Cell Significance Index: -0.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1564
    Cell Significance Index: -31.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1597
    Cell Significance Index: -4.1100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1802
    Cell Significance Index: -32.4900
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1820
    Cell Significance Index: -1.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1856
    Cell Significance Index: -37.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2214
    Cell Significance Index: -28.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2329
    Cell Significance Index: -33.8500
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.2478
    Cell Significance Index: -3.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2802
    Cell Significance Index: -59.0100
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.2906
    Cell Significance Index: -1.7800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3264
    Cell Significance Index: -33.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3492
    Cell Significance Index: -47.9500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3903
    Cell Significance Index: -40.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4222
    Cell Significance Index: -48.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4272
    Cell Significance Index: -27.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4467
    Cell Significance Index: -33.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4634
    Cell Significance Index: -5.2700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4937
    Cell Significance Index: -5.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5107
    Cell Significance Index: -26.6000
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.5172
    Cell Significance Index: -3.7600
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.5579
    Cell Significance Index: -6.0900
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.5812
    Cell Significance Index: -6.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5828
    Cell Significance Index: -39.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.5896
    Cell Significance Index: -100.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5924
    Cell Significance Index: -37.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5927
    Cell Significance Index: -36.3400
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.5967
    Cell Significance Index: -5.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.6131
    Cell Significance Index: -47.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6168
    Cell Significance Index: -28.9900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.6211
    Cell Significance Index: -6.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.6649
    Cell Significance Index: -78.4100
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.6863
    Cell Significance Index: -4.2800
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: -0.7600
    Cell Significance Index: -5.8400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.7743
    Cell Significance Index: -35.1000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8080
    Cell Significance Index: -35.7400
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.8452
    Cell Significance Index: -6.0700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.9154
    Cell Significance Index: -15.0900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9522
    Cell Significance Index: -31.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.9694
    Cell Significance Index: -36.7100
  • Cell Name: articular chondrocyte (CL1001607)
    Fold Change: -0.9908
    Cell Significance Index: -5.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0342
    Cell Significance Index: -27.2000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1013
    Cell Significance Index: -38.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.1342
    Cell Significance Index: -59.5500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.1475
    Cell Significance Index: -24.3600
  • Cell Name: neuron (CL0000540)
    Fold Change: -1.1552
    Cell Significance Index: -10.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.1559
    Cell Significance Index: -33.1400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -1.2151
    Cell Significance Index: -25.3600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.2217
    Cell Significance Index: -38.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.2368
    Cell Significance Index: -39.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.2563
    Cell Significance Index: -35.8500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -1.2752
    Cell Significance Index: -31.8100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -1.2815
    Cell Significance Index: -25.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.3291
    Cell Significance Index: -61.9700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.3434
    Cell Significance Index: -34.3200
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -1.3563
    Cell Significance Index: -13.4200
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: -1.3687
    Cell Significance Index: -7.2000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -1.4154
    Cell Significance Index: -12.0300
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: -1.4416
    Cell Significance Index: -9.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.4452
    Cell Significance Index: -38.7300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.4559
    Cell Significance Index: -38.9500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -1.5139
    Cell Significance Index: -27.9800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.5417
    Cell Significance Index: -38.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcription Factor:** SOX11 is a transcription factor that regulates gene expression by binding to specific DNA sequences, thereby modulating the transcription of target genes. 2. **Developmental Expression:** SOX11 is highly expressed in various tissues and cells, including neurons, glial cells, endothelial cells, and neural crest cells. 3. **Regulatory Role:** SOX11 acts as a negative regulator of gene expression, inhibiting the transcription of target genes involved in cell proliferation, differentiation, and survival. 4. **Immunological Functions:** SOX11 has been implicated in regulating immune responses, including the proliferation and differentiation of lymphocytes, glial cells, and neural cells. **Pathways and Functions:** 1. **Brain Development:** SOX11 regulates the development of the brain, including the formation of the cerebral cortex, hippocampus, and cerebellum. 2. **Eye Morphogenesis:** SOX11 is involved in the development of the camera-type eye, including the formation of the lens, cornea, and optic fissure. 3. **Skeletal System Formation:** SOX11 regulates the development of the skeletal system, including the formation of bones, cartilage, and joints. 4. **Immune System Regulation:** SOX11 modulates immune responses, including the regulation of lymphocyte proliferation, glial cell proliferation, and neural cell differentiation. 5. **Neurogenesis:** SOX11 promotes neurogenesis, the process of generating new neurons from neural stem cells. **Clinical Significance:** 1. **Immunological Disorders:** Alterations in SOX11 expression have been implicated in various immunological disorders, including multiple sclerosis, rheumatoid arthritis, and lupus. 2. **Cancer:** SOX11 has been identified as a tumor suppressor gene in several types of cancer, including lung, breast, and colon cancer. 3. **Neurological Disorders:** SOX11 has been implicated in the development of neurological disorders, including autism spectrum disorder, schizophrenia, and epilepsy. 4. **Developmental Delays:** SOX11 mutations have been associated with developmental delays and intellectual disability in individuals with neurodevelopmental disorders. In conclusion, the SOX11 gene plays a critical role in regulating developmental processes, immune responses, and cell proliferation. Its dysregulation has been implicated in various immunological and neurological disorders, highlighting the importance of SOX11 as a therapeutic target for the treatment of these conditions.

Genular Protein ID: 1277026929

Symbol: SOX11_HUMAN

Name: Transcription factor SOX-11

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8666406

Title: The human SOX11 gene: cloning, chromosomal assignment and tissue expression.

PubMed ID: 8666406

DOI: 10.1006/geno.1995.9970

PubMed ID: 10574465

Title: Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region.

PubMed ID: 10574465

DOI: 10.1093/dnares/6.5.357

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 8332506

Title: Partial cloning of SOX-11 and SOX-12, two new human SOX genes.

PubMed ID: 8332506

DOI: 10.1093/nar/21.12.2943

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 24886874

Title: De novo SOX11 mutations cause Coffin-Siris syndrome.

PubMed ID: 24886874

DOI: 10.1038/ncomms5011

PubMed ID: 26543203

Title: Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

PubMed ID: 26543203

DOI: 10.1136/jmedgenet-2015-103393

PubMed ID: 28787104

Title: Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

PubMed ID: 28787104

DOI: 10.1111/cga.12242

PubMed ID: 33086258

Title: SOX11-related syndrome: report on a new case and review.

PubMed ID: 33086258

DOI: 10.1097/mcd.0000000000000348

PubMed ID: 35642566

Title: Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

PubMed ID: 35642566

DOI: 10.1002/ajmg.a.62851

PubMed ID: 33785884

Title: Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

PubMed ID: 33785884

DOI: 10.1038/s41431-021-00865-2

PubMed ID: 35938035

Title: Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.

PubMed ID: 35938035

DOI: 10.3389/fgene.2022.940776

PubMed ID: 35341651

Title: SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

PubMed ID: 35341651

DOI: 10.1016/j.gim.2022.02.013

Sequence Information:

  • Length: 441
  • Mass: 46679
  • Checksum: 50567A654F503C63
  • Sequence:
  • MVQQAESLEA ESNLPREALD TEEGEFMACS PVALDESDPD WCKTASGHIK RPMNAFMVWS 
    KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR EAERLRLKHM ADYPDYKYRP 
    RKKPKMDPSA KPSASQSPEK SAAGGGGGSA GGGAGGAKTS KGSSKKCGKL KAPAAAGAKA 
    GAGKAAQSGD YGGAGDDYVL GSLRVSGSGG GGAGKTVKCV FLDEDDDDDD DDDELQLQIK 
    QEPDEEDEEP PHQQLLQPPG QQPSQLLRRY NVAKVPASPT LSSSAESPEG ASLYDEVRAG 
    ATSGAGGGSR LYYSFKNITK QHPPPLAQPA LSPASSRSVS TSSSSSSGSS SGSSGEDADD 
    LMFDLSLNFS QSAHSASEQQ LGGGAAAGNL SLSLVDKDLD SFSEGSLGSH FEFPDYCTPE 
    LSEMIAGDWL EANFSDLVFT Y

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.