Details for: SOX10

Gene ID: 6663

Symbol: SOX10

Ensembl ID: ENSG00000100146

Description: SRY-box transcription factor 10

Associated with

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: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8366
    Cell Significance Index: 39.3200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.8364
    Cell Significance Index: 20.2600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.6987
    Cell Significance Index: 9.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5323
    Cell Significance Index: 24.8200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.2467
    Cell Significance Index: 182.7600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1538
    Cell Significance Index: 19.8800
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.1139
    Cell Significance Index: 1.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0598
    Cell Significance Index: 11.9900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0568
    Cell Significance Index: 35.4500
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.0446
    Cell Significance Index: 0.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0142
    Cell Significance Index: 5.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0083
    Cell Significance Index: 15.7000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0043
    Cell Significance Index: 0.8500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0032
    Cell Significance Index: 4.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0007
    Cell Significance Index: 0.4600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0014
    Cell Significance Index: -0.2900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0015
    Cell Significance Index: -0.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0015
    Cell Significance Index: -2.8400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0052
    Cell Significance Index: -7.0400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0088
    Cell Significance Index: -3.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0097
    Cell Significance Index: -1.6600
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0103
    Cell Significance Index: -0.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0130
    Cell Significance Index: -8.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0178
    Cell Significance Index: -8.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0225
    Cell Significance Index: -6.4600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0299
    Cell Significance Index: -1.8400
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.0374
    Cell Significance Index: -0.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0423
    Cell Significance Index: -6.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0479
    Cell Significance Index: -8.6300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0602
    Cell Significance Index: -6.8700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0615
    Cell Significance Index: -8.4400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0701
    Cell Significance Index: -8.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0725
    Cell Significance Index: -8.3100
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: -0.0733
    Cell Significance Index: -0.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0777
    Cell Significance Index: -9.5600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0796
    Cell Significance Index: -8.2900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0817
    Cell Significance Index: -2.1000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0907
    Cell Significance Index: -10.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1022
    Cell Significance Index: -6.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1052
    Cell Significance Index: -8.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1081
    Cell Significance Index: -8.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1213
    Cell Significance Index: -3.3900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1256
    Cell Significance Index: -8.8800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1327
    Cell Significance Index: -4.8700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1590
    Cell Significance Index: -8.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1614
    Cell Significance Index: -7.1400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1856
    Cell Significance Index: -9.6400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1922
    Cell Significance Index: -9.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1927
    Cell Significance Index: -3.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1967
    Cell Significance Index: -7.4500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2127
    Cell Significance Index: -7.4500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2206
    Cell Significance Index: -2.6300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2289
    Cell Significance Index: -7.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2303
    Cell Significance Index: -9.4400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2379
    Cell Significance Index: -7.7900
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.2414
    Cell Significance Index: -2.6500
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.2452
    Cell Significance Index: -3.2000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.2547
    Cell Significance Index: -3.8100
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.2688
    Cell Significance Index: -3.0100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2770
    Cell Significance Index: -7.5400
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2779
    Cell Significance Index: -3.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2795
    Cell Significance Index: -9.8200
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: -0.2796
    Cell Significance Index: -2.4600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.2801
    Cell Significance Index: -4.6200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2812
    Cell Significance Index: -3.2800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.2871
    Cell Significance Index: -3.9700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2898
    Cell Significance Index: -6.9500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2964
    Cell Significance Index: -4.2500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2973
    Cell Significance Index: -8.4900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2983
    Cell Significance Index: -9.4400
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.2984
    Cell Significance Index: -3.1700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3094
    Cell Significance Index: -8.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3214
    Cell Significance Index: -9.2600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3235
    Cell Significance Index: -6.9900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3239
    Cell Significance Index: -8.0800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3421
    Cell Significance Index: -7.2600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3561
    Cell Significance Index: -9.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3572
    Cell Significance Index: -10.5200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3587
    Cell Significance Index: -8.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3618
    Cell Significance Index: -9.7000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3665
    Cell Significance Index: -7.6500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3692
    Cell Significance Index: -7.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3696
    Cell Significance Index: -9.8700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3721
    Cell Significance Index: -7.4700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3736
    Cell Significance Index: -8.1800
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: -0.3809
    Cell Significance Index: -2.1200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3811
    Cell Significance Index: -10.0200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3848
    Cell Significance Index: -9.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3880
    Cell Significance Index: -9.7000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3890
    Cell Significance Index: -9.9100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3961
    Cell Significance Index: -8.0600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3966
    Cell Significance Index: -9.8900
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.3977
    Cell Significance Index: -7.7800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.4012
    Cell Significance Index: -3.9700
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.4100
    Cell Significance Index: -4.4100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.4212
    Cell Significance Index: -8.2900
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.4236
    Cell Significance Index: -3.3700
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.4255
    Cell Significance Index: -5.4800
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.4306
    Cell Significance Index: -4.8100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4332
    Cell Significance Index: -5.9100

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. **Transcriptional regulation:** SOX10 is a transcriptional regulator that binds to specific DNA sequences, influencing the expression of target genes involved in cell differentiation, proliferation, and survival. 2. **Expression pattern:** SOX10 is widely expressed in neural crest cells, enteric nervous system, and other tissues, suggesting its involvement in a broad range of developmental processes. 3. **Conservation:** SOX10 is highly conserved across species, indicating its essential role in evolutionarily conserved developmental pathways. **Pathways and Functions:** 1. **Cell-cell communication:** SOX10 regulates the expression of adhesion molecules, such as CDH19 and E-cadherin, involved in cell-cell interactions and homotypic adhesion. 2. **Neural crest cell migration:** SOX10 is essential for the migration and differentiation of neural crest cells, which give rise to various cell types, including neurons, glial cells, and melanocytes. 3. **Myelination:** SOX10 regulates the expression of myelination-related genes, such as myelin basic protein and myelin transcription factor 1, essential for the development of the peripheral nervous system. 4. **Immune cell development:** SOX10 is involved in the development and function of immune cells, including T cells, B cells, and dendritic cells, highlighting its role in immune system development and regulation. 5. **Gliogenesis and oligodendrocyte development:** SOX10 promotes the expression of gliogenesis-related genes, such as oligodendrocyte transcription factor 2 (OTF-2), essential for the development of oligodendrocytes, the myelinating cells of the central nervous system. **Clinical Significance:** 1. **Neurological disorders:** Mutations in the SOX10 gene have been associated with various neurological disorders, including congenital neural tube defects, schwannoma, and melanoma. 2. **Immunological disorders:** SOX10 dysregulation has been implicated in autoimmune diseases, such as multiple sclerosis, and immunodeficiency disorders, such as DiGeorge syndrome. 3. **Cancer:** SOX10 is overexpressed in certain types of cancer, including melanoma, glioblastoma, and neuroblastoma, suggesting its potential role as a tumor suppressor or oncogene. 4. **Regenerative medicine:** SOX10 has been identified as a key regulator of stem cell self-renewal and differentiation, making it a promising target for regenerative medicine applications. In conclusion, the SOX10 gene is a crucial regulator of developmental biology and immunology, with significant implications for our understanding of neurological and immunological disorders. Further research is needed to fully elucidate the mechanisms by which SOX10 regulates developmental processes and to explore its potential therapeutic applications.

Genular Protein ID: 2006797338

Symbol: SOX10_HUMAN

Name: Transcription factor SOX-10

UniProtKB Accession Codes:

P56693 B4DV62 Q6FHW7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 44 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 4 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9462749

Title: SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

PubMed ID: 9462749

DOI: 10.1038/ng0298-171

PubMed ID: 9760192

Title: The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.

PubMed ID: 9760192

DOI: 10.1007/s004390050793

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9722528

Title: Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients.

PubMed ID: 9722528

DOI: 10.1074/jbc.273.36.23033

PubMed ID: 12138193

Title: Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation.

PubMed ID: 12138193

DOI: 10.1128/mcb.22.16.5826-5834.2002

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21965087

Title: Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

PubMed ID: 21965087

DOI: 10.1007/s00439-011-1098-2

PubMed ID: 10441344

Title: A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

PubMed ID: 10441344

DOI: 10.1093/hmg/8.9.1785

PubMed ID: 10762540

Title: Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

PubMed ID: 10762540

DOI: 10.1086/302895

PubMed ID: 15004559

Title: Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PubMed ID: 15004559

DOI: 10.1038/ng1322

PubMed ID: 17999358

Title: Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

PubMed ID: 17999358

DOI: 10.1086/522090

PubMed ID: 31194875

Title: The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.

PubMed ID: 31194875

DOI: 10.1093/nar/gkz523

PubMed ID: 18348274

Title: A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

PubMed ID: 18348274

DOI: 10.1002/ajmg.a.32181

PubMed ID: 19208381

Title: Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

PubMed ID: 19208381

DOI: 10.1002/ajmg.a.32657

PubMed ID: 21898658

Title: Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PubMed ID: 21898658

DOI: 10.1002/humu.21583

PubMed ID: 25077900

Title: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PubMed ID: 25077900

DOI: 10.1210/jc.2014-2110

Sequence Information:

  • Length: 466
  • Mass: 49911
  • Checksum: FAA1EC108D4DE6A1
  • Sequence:
    • MAEEQDLSEV ELSPVGSEEP RCLSPGSAPS LGPDGGGGGS GLRASPGPGE LGKVKKEQQD 
GEADDDKFPV CIREAVSQVL SGYDWTLVPM PVRVNGASKS KPHVKRPMNA FMVWAQAARR 
KLADQYPHLH NAELSKTLGK LWRLLNESDK RPFIEEAERL RMQHKKDHPD YKYQPRRRKN 
GKAAQGEAEC PGGEAEQGGT AAIQAHYKSA HLDHRHPGEG SPMSDGNPEH PSGQSHGPPT 
PPTTPKTELQ SGKADPKRDG RSMGEGGKPH IDFGNVDIGE ISHEVMSNME TFDVAELDQY 
LPPNGHPGHV SSYSAAGYGL GSALAVASGH SAWISKPPGV ALPTVSPPGV DAKAQVKTET 
AGPQGPPHYT DQPSTSQIAY TSLSLPHYGS AFPSISRPQF DYSDHQPSGP YYGHSGQASG 
LYSAFSYMGP SQRPLYTAIS DPSPSGPQSH SPTHWEQPVY TTLSRP

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.