Aliases for SOX10 Gene
Aliases for SOX10 Gene
External Ids for SOX10 Gene
- HGNC: 11190
- Entrez Gene: 6663
- Ensembl: ENSG00000100146
- OMIM: 602229
- UniProtKB: P56693
Previous GeneCards Identifiers for SOX10 Gene
- GC22M034982
- GC22M036610
- GC22M036611
- GC22M036692
- GC22M038366
- GC22M021334
- GC22M038392
- GC22M038514
- GC22M038826
- GC22M039963
- GC22M040654
- GC22M041103
- GC22M041506
- GC22M041916
Summaries for SOX10 Gene
-
This 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 activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX10 Gene
SOX10 (SRY-Box 10) is a Protein Coding gene. Diseases associated with SOX10 include Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease and Waardenburg Syndrome, Type 2E. Among its related pathways are Melanocyte Development and Pigmentation and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SOX9.
UniProtKB/Swiss-Prot for SOX10 Gene
-
Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087).
Additional gene information for SOX10 Gene
- Monarch Initiative
- Search for SOX10 at DataMed
- Search for SOX10 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX10 Gene
Genomics for SOX10 Gene
GeneHancer (GH) Regulatory Elements for SOX10 Gene
Promoters and enhancers for SOX10 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22J037983 | Promoter/Enhancer | 1.4 | VISTA EPDnew ENCODE dbSUPER | 650.7 | +2.9 | 2907 | 1.2 | ZFHX2 POLR2A SIN3A EGR2 | SOX10 MIR6820 POLR2F | |
| GH22J037985 | Enhancer | 0.6 | VISTA dbSUPER | 650.7 | +1.4 | 1389 | 0.8 | SOX10 APOBEC3B MIR6820 POLR2F | ||
| GH22J037986 | Enhancer | 0.2 | dbSUPER | 650.7 | +0.5 | 512 | 0.3 | SOX10 MIR4534 MIR6820 POLR2F | ||
| GH22J037987 | Enhancer | 0.2 | dbSUPER | 650.7 | 0.0 | 0 | 0.1 | SOX10 MIR4534 POLR2F | ||
| GH22J037989 | Enhancer | 0.2 | dbSUPER | 650.7 | +0.2 | 223 | 0.2 | MIR4534 SOX10 MIR6820 POLR2F |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around SOX10 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SOX10 gene promoter:
-
- USF1
- USF-1
- AREB6
- AP-2gamma
- Lmo2
- RREB-1
- HOXA5
- NF-1/L
- NF-1
- E47
Regulatory Element Products
Genomic Locations for SOX10 Gene
Genomic Locations for SOX10 Gene
- chr22:37,970,686-37,987,422
- (GRCh38/hg38)
- Size:
- 16,737 bases
- Orientation:
- Minus strand
- chr22:38,366,693-38,383,429
- (GRCh37/hg19)
- Size:
- 16,737 bases
- Orientation:
- Minus strand
Genomic View for SOX10 Gene
Genes around SOX10 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.1 by Entrez Gene
- 22q13.1 by HGNC
- 22q13.1 by Ensembl
SOX10 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SOX10 Gene
Proteins for SOX10 Gene
-
Protein details for SOX10 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P56693-SOX10_HUMAN
- Recommended name:
- Transcription factor SOX-10
- Protein Accession:
- P56693
- B4DV62
- Q6FHW7
Protein attributes for SOX10 Gene
- Size:
- 466 amino acids
- Molecular mass:
- 49911 Da
- Quaternary structure:
-
- Monomer. Interacts with ARMCX3 at the mitochondrial outer membrane surface. Interacts with PAX3 (PubMed:21965087).
Protein Expression for SOX10 Gene
Post-translational modifications for SOX10 Gene
Other Protein References for SOX10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SOX10 (SOX10)
-
Custom Antibody ServicesOriGene Antibodies for SOX10
- Novus Biologicals Antibodies for SOX10
-
Abcam antibodies for SOX10
- Invitrogen Antibodies for SOX10
- antibodies-online: Search results for 312 available SOX10 Antibodies ranked by validation data
- Compare Top SOX10 Antibodies
-
Recommended
- 263 WB Antibodies (anti-human)
- 19 FACS Antibodies (anti-human)
- 13 IHC (p) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 8 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 58 WB Antibodies (anti-mouse)
- 5 FACS Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- GeneTex sox10 Antibody for SOX10
-
Custom Antibody ServicesProSci Antibodies for SOX10
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX10
Protein Products
-
OriGene Purified Proteins for SOX10
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX10
- Origene Custom Protein Services for SOX10
- Search GeneTex for Proteins for SOX10
-
Abcam proteins for SOX10
Assay Products
- antibodies-online: Search results for 2 available SOX10 Elisa Kits ranked by validation data
- Compare Top SOX10 Elisa Kits
-
Recommended
No data available for DME Specific Peptides for SOX10 Gene
Domains & Families for SOX10 Gene
Gene Families for SOX10 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX10 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SOX10 Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for SOX10 Gene
Function for SOX10 Gene
Molecular function for SOX10 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087).
- GENATLAS Biochemistry:
- SRY related HMG box gene 10,expressed in neural crest cells during early development and in glial cells of the peripheral and central nervous system during late development and in adult,playing an essential role in the development of neural-crest-derived human cell lineages,homolog to mouse dominant megacolon (Dom),expressed in pancreas,prostate,ovary,stomach,spinal cord trachea,adrenal gland and brain,modulator of LINE retroposons promoter activity
Phenotypes From GWAS Catalog for SOX10 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0003677 | DNA binding | IEA,ISS | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | ISS | -- |
| GO:0003713 | transcription coactivator activity | TAS | 9722528 |
Phenotypes for SOX10 Gene
- MGI mutant phenotypes for SOX10:
-
inferred from 17 alleles
- respiratory system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- embryo phenotype
- normal phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for SOX10:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased cell death HMECs cells
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Decreased Aire reporter expression
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for SOX10 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SOX10
-
CRISPR Products
-
OriGene CRISPR knockouts for SOX10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX10
- genomics-online: gRNA clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
- Applied Biological Materials CRISPR for SOX10
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX10
- GenScript: Design CRISPR guide RNA sequences for SOX10
Targeted motifs for SOX10 Gene
HOMER Transcription Factor Regulatory Elements motif SOX10
- Consensus sequence: CCWTTGTYYB Submotif: canonical Cell Type: SciaticNerve GEO ID: GSE35132
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SOX10
- Browse OriGene Inhibitory RNA Products For SOX10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX10
- genomics-online: shRNA clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SOX10
- VectorBuilder custom plasmid, inducible vectors for SOX10
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SOX10
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SOX10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX10
- Applied Biological Materials Clones for SOX10
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
- ESI BIO PureStem 4D20.8, NCr-fac Progenitor for SOX10
-
Horizon Cell Lines for SOX10
No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for SOX10 Gene
Localization for SOX10 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX10 Gene
- Cytoplasm. Nucleus. Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IEA | -- |
| GO:0005634 | nucleus | IEA,ISS | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
Pathways & Interactions for SOX10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neural Stem Cell Differentiation Pathways and Lineage-specific Markers | ||
| 2 | Melanocyte Development and Pigmentation | ||
| 3 | ERK Signaling | ||
| 4 | Neural Crest Differentiation | ||
Pathways by source for SOX10 Gene
1 BioSystems pathway for SOX10 Gene
1 R&D Systems pathway for SOX10 Gene
2 Qiagen pathways for SOX10 Gene
Interacting Proteins for SOX10 Gene
Selected Interacting proteins:
P56693-SOX10_HUMAN
ENSP00000354130
for SOX10 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for SOX10
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 9722528 |
| GO:0006368 | transcription elongation from RNA polymerase II promoter | IEA | -- |
| GO:0009653 | anatomical structure morphogenesis | TAS | 9425902 |
No data available for SIGNOR curated interactions for SOX10 Gene
Drugs & Compounds for SOX10 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2141 | ||
| Docetaxel | Approved, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2040 | ||
| Paclitaxel | Approved, Vet_approved | Pharma | Tubulin and Bcl2 inhibitor, Taxanes | 3027 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SOX10 Gene
mRNA/cDNA for SOX10 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (163) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000446929 1095 bps (uc062eci.1)
- ENST00000396884 2879 bps (uc003aun.2)
- ENST00000360880 2861 bps (uc003auo.2)
- ENST00000427770 873 bps (uc062ecj.1)
- ENST00000470555 124 bps (uc062eck.1)
Unigene Clusters for SOX10 Gene
- SRY (sex determining region Y)-box 10:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SOX10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX10
- genomics-online: gRNA clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
- Applied Biological Materials CRISPR for SOX10
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX10
- GenScript: Design CRISPR guide RNA sequences for SOX10
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SOX10
- Browse OriGene Inhibitory RNA Products For SOX10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX10
- genomics-online: shRNA clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SOX10
- VectorBuilder custom plasmid, inducible vectors for SOX10
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SOX10
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SOX10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX10
- Applied Biological Materials Clones for SOX10
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SOX10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Lateral Ganglionic Eminence
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Oligodendrocyte Precursor Cells dP3 Neural Domain
- Oligodendrocyte Precursor Cells Caudal Ganglionic Eminence
- Oligodendrocyte Precursor Cells dP5 Neural Domain
-
Peripheral Nervous System (Nervous System)
- Pro-myelinating Schwann Cells Peripheral Nerve Domain
- Immature Schwann Cells Peripheral Nerve Domain
- Schwann Precursor Cells Peripheral Nerve Domain
- Myelinating Schwann Cells Peripheral Nerve Domain
- Schwann cells
-
Neural Crest (Gastrulation Derivatives)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Cranial Neural Crest
- Rhombencephalic Neural Crest Cells Head Mesenchyme
- Neural Crest Cells Neural Plate Border
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Spinal Cord (Nervous System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Schwann Cells Peripheral Nerve Domain
- Schwann cells
- Schwann-like cells(Chi GF et. al. 2010)
- B27-induced oligodendrocyte-like cells(Sundberg M et. al. 2010)
-
Neural Tube (Nervous System)
- Oligodendrocyte Precursor Cells Lateral Ganglionic Eminence
- Oligodendrocyte Precursor Cells dP3 Neural Domain
- Oligodendrocyte Precursor Cells Caudal Ganglionic Eminence
- Oligodendrocyte Precursor Cells dP5 Neural Domain
- Oligodendrocyte Precursor Cells dP4 Neural Domain
-
Head Mesenchyme (Muscoskeletal System)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Rhombencephalic Neural Crest Cells Head Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Sensory Ganglia Of Cranial Nerves Branchial Arch 2
- Cranial Neural Crest Cells Branchial Arch 2
- Oligodendrocytes (Nervous System)
- Melanocytes (Integumentary System)
- Epidermis (Integumentary System)
- NULL (Uncategorized)
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
-
Neural Ectoderm (Nervous System)
- Neural Crest Cells Neural Plate Border
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Uterus (Reproductive System)
- Lung (Respiratory System)
- Testis (Reproductive System)
- Eye (Sensory Organs)
- Cartilage (Muscoskeletal System)
- Hair (Integumentary System)
- Schwann Cells (Nervous System)
- Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for SOX10 Gene
This gene is overexpressed in Nerve - Tibial (x7.7) and Brain - Spinal cord (cervical c-1) (x6.4).
This gene is overexpressed in Spinal cord (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX10 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SOX10 Gene:
SOX10SOURCE GeneReport for Unigene cluster for SOX10 Gene:
Hs.376984mRNA Expression by UniProt/SwissProt for SOX10 Gene:
P56693-SOX10_HUMAN
Tissue specificity:
Expressed in fetal brain and in adult brain, heart, small intestine and colon.
Evidence on tissue expression from TISSUES for SOX10 Gene
- Skin(4.9)
- Intestine(4.4)
- Nervous system(3.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX10 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- hypothalamus
- inner ear
- jaw
- lacrimal apparatus
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- pharynx
- pituitary gland
- skull
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- small intestine
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- uterus
- vagina
- vas deferens
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for SOX10
-
OriGene qPCR primer pairs for SOX10
- genomics-online: primer clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
Gene Expression Assay Products
Orthologs for SOX10 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SOX10 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SOX10 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SOX10 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sox10 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Sox10 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SOX10 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SOX10 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SOX10 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sox10 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398422 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sox10 34 33 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Sox100B 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | sox-4 34 |
|
OneToMany |
- Species where no ortholog for SOX10 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for SOX10 Gene
- ENSEMBL:
- Gene Tree for SOX10 (if available)
- TreeFam:
- Gene Tree for SOX10 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX10: view image
Paralogs for SOX10 Gene
Paralogs for SOX10 Gene
(24) SIMAP similar genes for SOX10 Gene using alignment to 3 proteins:
- SOX10_HUMAN
- A6PVD3_HUMAN
- H0Y5N4_HUMAN
Variants for SOX10 Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518656 | likely-pathogenic, Waardenburg syndrome type 2E | 37,983,469(-) | G/C | coding_sequence_variant, missense_variant | |
| rs121909117 | pathogenic, Waardenburg syndrome type 4C, Waardenburg syndrome 4C (WS4C) [MIM:613266] | 37,978,094(-) | G/A | coding_sequence_variant, missense_variant | |
| rs139883 | benign, Waardenburg syndrome, PCWH Syndrome | 37,973,020(-) | C/T | 3_prime_UTR_variant | |
| rs139884 | benign, not specified, Waardenburg syndrome, PCWH Syndrome | 37,973,969(-) | A/G | coding_sequence_variant, synonymous_variant | |
| rs149435516 | benign, likely-benign, not specified, Waardenburg syndrome, PCWH Syndrome | 37,983,767(-) | G/A | coding_sequence_variant, synonymous_variant |
Residual Variation Intolerance Score:
15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.81;
16.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX10 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SOX10 Gene
Disorders for SOX10 Gene
(42) MalaCards diseases for SOX10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease |
|
|
| waardenburg syndrome, type 2e |
|
|
| waardenburg syndrome, type 4c |
|
|
| hirschsprung disease 1 |
|
|
| waardenburg's syndrome |
|
Search SOX10 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SOX10_HUMAN- Waardenburg syndrome 2E (WS2E) [MIM:611584]: An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome. {ECO:0000269 PubMed:10441344, ECO:0000269 PubMed:17999358, ECO:0000269 PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Waardenburg syndrome 4C (WS4C) [MIM:613266]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269 PubMed:18348274, ECO:0000269 PubMed:21898658, ECO:0000269 PubMed:9462749}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]: A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease. {ECO:0000269 PubMed:10762540, ECO:0000269 PubMed:15004559, ECO:0000269 PubMed:19208381, ECO:0000269 PubMed:21898658}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SOX10
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SOX10 Gene
Publications for SOX10 Gene
- A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (PMID: 10441344) Bondurand N … Goossens M (Human molecular genetics 1999) 2 3 4 22 58
- SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PMID: 9462749) Pingault V … Goossens M (Nature genetics 1998) 2 3 4 22 58
- Frequent mutations in the MITF pathway in melanoma. (PMID: 19422606) Cronin JC … Samuels Y (Pigment cell & melanoma research 2009) 3 22 44 58
- A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. (PMID: 18348274) Morín M … del Castillo I (American journal of medical genetics. Part A 2008) 3 4 22 58
- Association of SOX10 with schizophrenia in the Japanese population. (PMID: 17621166) Maeno N … Ozaki N (Psychiatric genetics 2007) 3 22 44 58
Products for SOX10 Gene
- R&D Systems Antibodies for SOX10 (SOX10)
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for 312 available SOX10 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for 101 available SOX10 gene related products
- Overview of 101 available SOX10 gene related products
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- Overview of 101 available SOX10 gene related products
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- Overview of 101 available SOX10 gene related products
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- Overview of 101 available SOX10 gene related products
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- Overview of 101 available SOX10 gene related products
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Sources for SOX10 Gene
- (1) GeneCards
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