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This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrog... See more...
Aliases for SOX6 Gene
Aliases for SOX6 Gene
External Ids for SOX6 Gene
- HGNC: 16421
- Entrez Gene: 55553
- Ensembl: ENSG00000110693
- OMIM: 607257
- UniProtKB: P35712
Previous GeneCards Identifiers for SOX6 Gene
- GC11M017086
- GC11M016740
- GC11M016032
- GC11M015957
- GC11M015673
Summaries for SOX6 Gene
-
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
GeneCards Summary for SOX6 Gene
SOX6 (SRY-Box Transcription Factor 6) is a Protein Coding gene. Diseases associated with SOX6 include Arthrogryposis, Distal, Type 1B and Arthrogryposis, Distal, Type 2A. Among its related pathways are Signaling by GPCR and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX5.
UniProtKB/Swiss-Prot Summary for SOX6 Gene
-
Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor.
Additional gene information for SOX6 Gene
- HGNC(16421)
- Entrez Gene(55553)
- Ensembl(ENSG00000110693)
- OMIM(607257)
- UniProtKB(P35712)
- Open Targets Platform(ENSG00000110693)
- Monarch Initiative
- Search for SOX6 at DataMed
- Search for SOX6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX6 Gene
Genomics for SOX6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SOX6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SOX6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX6
- Top Transcription factor binding sites by QIAGEN in the SOX6 gene promoter:
-
- AREB6
- C/EBPalpha
- C/EBPbeta
- CREB
- deltaCREB
- LyF-1
- Sox5
Genomic Locations for SOX6 Gene
Genomic Locations for SOX6 Gene
- chr11:15,966,449-16,739,591
- (GRCh38/hg38)
- Size:
- 773,143 bases
- Orientation:
- Minus strand
- chr11:15,987,995-16,761,138
- (GRCh37/hg19)
- Size:
- 773,144 bases
- Orientation:
- Minus strand
Genomic View for SOX6 Gene
Genes around SOX6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.2 by HGNC
- 11p15.2 by Entrez Gene
- 11p15.2 by Ensembl
SOX6 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 SOX6 Gene
Proteins for SOX6 Gene
-
Protein details for SOX6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35712-SOX6_HUMAN
- Recommended name:
- Transcription factor SOX-6
- Protein Accession:
- P35712
- Q86VX7
- Q9BXQ3
- Q9BXQ4
- Q9BXQ5
- Q9H0I8
Protein attributes for SOX6 Gene
- Size:
- 828 amino acids
- Molecular mass:
- 91921 Da
- Quaternary structure:
-
- Interacts with DAZAP2 (By similarity). May interact with CENPK (By similarity).
- SequenceCaution:
-
- Sequence=BC037866; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for SOX6 Gene
Post-translational modifications for SOX6 Gene
- Sumoylation inhibits the transcriptional activity.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SOX6 Gene
Antibody Products
- LifeSpan BioSciences SOX6 Antibody
- Novus Biologicals Antibodies for SOX6
-
Abcam antibodies for SOX6
- Invitrogen Antibodies for SOX6 (AFLGC-SOX6)
- antibodies-online: Show 19 available SOX6 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX6
Protein Products
-
OriGene Purified Proteins for SOX6
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX6
- Origene Custom Protein Services for SOX6
- antibodies-online: Search results for available SOX6 related products ranked by validation data
-
Abcam proteins for SOX6
Assay Products
- antibodies-online: Search results for available SOX6 related products ranked by validation data
-
Boster Bio ELISA Kits for SOX6
No data available for DME Specific Peptides for SOX6 Gene
Domains & Families for SOX6 Gene
Gene Families for SOX6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX6 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SOX6 Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription factor SOX-6 (SOX6_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX6 Gene
Function for SOX6 Gene
Molecular function for SOX6 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor.
Phenotypes From GWAS Catalog for SOX6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 26525805 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001217 | bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding | IEA,ISS | -- |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
Phenotypes for SOX6 Gene
- MGI mutant phenotypes for SOX6:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SOX6:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX6 - Select products 50% OFF >
- * SOX6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX6
miRNA for SOX6 Gene
- miRTarBase miRNAs that target SOX6
-
- hsa-miR-1-3p (MIRT003203)
- mmu-miR-219a-5p (MIRT004473)
- hsa-miR-499a-5p (MIRT004658)
- hsa-miR-155-5p (MIRT006113)
- mmu-miR-223-3p (MIRT009801)
- mmu-miR-26a-5p (MIRT011441)
- hsa-miR-16-5p (MIRT052901)
- mmu-miR-499-5p (MIRT054593)
- hsa-miR-208a-3p (MIRT438545)
- hsa-miR-3148 (MIRT554044)
- hsa-miR-4668-5p (MIRT554045)
- hsa-miR-562 (MIRT554046)
- hsa-miR-651-3p (MIRT554047)
- hsa-miR-548n (MIRT554048)
- hsa-miR-19a-3p (MIRT554049)
- hsa-miR-19b-3p (MIRT554050)
- hsa-miR-1269a (MIRT732043)
- hsa-miR-132-3p (MIRT734812)
- hsa-miR-202-3p (MIRT735019)
- mmu-miR-208a-3p (MIRT735160)
- hsa-miR-1273h-5p (MIRT783355)
- hsa-miR-129-5p (MIRT783602)
- hsa-miR-30b-3p (MIRT784510)
- hsa-miR-30c-1-3p (MIRT784523)
- hsa-miR-30c-2-3p (MIRT784535)
- hsa-miR-3122 (MIRT784585)
- hsa-miR-3689a-3p (MIRT785246)
- hsa-miR-3689b-3p (MIRT785259)
- hsa-miR-3689c (MIRT785272)
- hsa-miR-3913-5p (MIRT785439)
- hsa-miR-450a-1-3p (MIRT786046)
- hsa-miR-6513-5p (MIRT788320)
- hsa-miR-6731-5p (MIRT788484)
- hsa-miR-6779-5p (MIRT788690)
- hsa-miR-6780a-5p (MIRT788702)
- hsa-miR-6788-5p (MIRT788735)
- hsa-miR-6878-5p (MIRT789265)
- hsa-miR-8085 (MIRT789858)
- hsa-miR-887-5p (MIRT789902)
Targeted motifs for SOX6 Gene
HOMER Transcription Factor Regulatory Elements motif SOX6
- Consensus sequence: CCATTGTTNY Submotif: canonical Cell Type: Myotubes GEO ID: GSE32627
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX6
- Browse OriGene Inhibitory RNA Products For SOX6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX6
Clone Products
- Applied Biological Materials (abm): Clones for SOX6 - Select products 50% OFF >
- * SOX6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210647
- MG227129
- MG227148
- MR210647
- MR210647L3
- MR210647L4
- MR227129
- MR227129L3
- MR227129L4
- MR227148
- MR227148L3
- MR227148L4
- MR231142
- MR231143
- MR231223
- RC211525
- RC211525L3
- RC211525L4
- RC212046
- RC212046L1
- RC212046L2
- RC212046L3
- RC212046L4
- RC227487
- RC227487L3
- RC227487L4
- RC227953
- RC227953L3
- RC227953L4
- RG211525
- RG212046
- RG227487
- RG227953
- RR208300
- RR208300L3
- RR208300L4
- MR210647L3V
- MR210647L4V
- MR227129L3V
- MR227129L4V
- MR227148L3V
- MR227148L4V
- RC211525L3V
- RC211525L4V
- RC212046L1V
- RC212046L2V
- RC212046L3V
- RC212046L4V
- RC227487L3V
- RC227487L4V
- RC227953L3V
- RC227953L4V
- RR208300L3V
- RR208300L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SOX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX6
Cell Line Products
-
Horizon Cell Lines for SOX6
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for SOX6 Gene
Localization for SOX6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX6 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IDA,NAS | 1614875 |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for SOX6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Wnt |
.71
|
|
| 2 | Mesenchymal Stem Cells and Lineage-specific Markers | ||
| 3 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
| 4 | Deactivation of the beta-catenin transactivating complex | ||
| 5 | Signaling by GPCR | ||
Pathways by source for SOX6 Gene
2 BioSystems pathways for SOX6 Gene
4 Reactome pathways for SOX6 Gene
1 R&D Systems pathway for SOX6 Gene
1 Qiagen pathway for SOX6 Gene
- Molecular Mechanisms of Cancer
Interacting Proteins for SOX6 Gene
Selected Interacting proteins:
P35712-SOX6_HUMAN
ENSP00000379644
for SOX6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SOX6
SIGNOR curated interactions for SOX6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000902 | cell morphogenesis | IEA | -- |
| GO:0001502 | cartilage condensation | ISS | -- |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0002062 | chondrocyte differentiation | ISS | -- |
Transcripts for SOX6 Gene
mRNA/cDNA for SOX6 Gene
- 6 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000316399 8808 nts (view in UCSC)
- ENST00000396356 8865 nts (view in UCSC)
- ENST00000524520 709 nts (view in UCSC)
- ENST00000524650 534 nts (view in UCSC)
- ENST00000525259 574 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX6 - Select products 50% OFF >
- * SOX6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX6
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX6
- Browse OriGene Inhibitory RNA Products For SOX6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX6
Clone Products
- Applied Biological Materials (abm): Clones for SOX6 - Select products 50% OFF >
- * SOX6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210647
- MG227129
- MG227148
- MR210647
- MR210647L3
- MR210647L4
- MR227129
- MR227129L3
- MR227129L4
- MR227148
- MR227148L3
- MR227148L4
- MR231142
- MR231143
- MR231223
- RC211525
- RC211525L3
- RC211525L4
- RC212046
- RC212046L1
- RC212046L2
- RC212046L3
- RC212046L4
- RC227487
- RC227487L3
- RC227487L4
- RC227953
- RC227953L3
- RC227953L4
- RG211525
- RG212046
- RG227487
- RG227953
- RR208300
- RR208300L3
- RR208300L4
- MR210647L3V
- MR210647L4V
- MR227129L3V
- MR227129L4V
- MR227148L3V
- MR227148L4V
- RC211525L3V
- RC211525L4V
- RC212046L1V
- RC212046L2V
- RC212046L3V
- RC212046L4V
- RC227487L3V
- RC227487L4V
- RC227953L3V
- RC227953L4V
- RR208300L3V
- RR208300L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SOX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX6
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - |
Relevant External Links for SOX6 Gene
- GeneLoc Exon Structure for
- SOX6
Expression for SOX6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Chondrocytes Rostral Synchondroses
- Chondrocytes Vertebrae
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Rostral Synchondroses
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Chondrocytes Rostral Synchondroses
- Chondrocytes Vertebrae
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Rostral Synchondroses
-
Brain (Nervous System)
- Adult Dopaminergic Neurons Substantia Nigra pars Compacta
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
- Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
- Hippocampus
- Cerebellum
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
- Umbilical cord blood-derived mesenchymal stem cells
-
Neural Tube (Nervous System)
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
- Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
-
Head Mesenchyme (Muscoskeletal System)
- Prechondrocytes Branchial Arch 2
- Chondrocytes Branchial Arch 2
-
Neurons
- Adult Dopaminergic Neurons Substantia Nigra pars Compacta
-
Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
-
Spinal Cord (Nervous System)
- Oligodendrocyte Precursor Cells Spinal Cord White Matter
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
- Liver (Hepatobiliary System)
- NULL (Uncategorized)
- Mesoderm (Gastrulation Derivatives)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for SOX6 Gene
This gene is overexpressed in Muscle - Skeletal (x4.7).
This gene is overexpressed in Adipocyte (61.5) and Peripheral blood mononuclear cells (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX6
SOURCE GeneReport for Unigene cluster for SOX6 Gene:
Hs.368226mRNA Expression by UniProt/SwissProt for SOX6 Gene:
P35712-SOX6_HUMAN
Tissue specificity:
Expressed in a wide variety of tissues, most abundantly in skeletal muscle.
Evidence on tissue expression from TISSUES for SOX6 Gene
- Liver(4.4)
- Blood(4.4)
- Nervous system(3.2)
- Muscle(2.7)
- Bone marrow(2.4)
- Skin(2.4)
- Kidney(2.3)
- Heart(2.3)
- Bone(2.2)
Primer Products
-
OriGene qPCR primer pairs for SOX6
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX6 Gene
Orthologs for SOX6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SOX6 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX6 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sox6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sox6 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SOX6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SOX6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SOX6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sox6 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11718 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sox102F 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | egl-13 31 32 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10481 30 |
|
- Species where no ortholog for SOX6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- 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 SOX6 Gene
- ENSEMBL:
- Gene Tree for SOX6 (if available)
- TreeFam:
- Gene Tree for SOX6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX6: view image
Paralogs for SOX6 Gene
Paralogs for SOX6 Gene
(10) SIMAP similar genes for SOX6 Gene using alignment to 6 proteins:
- SOX6_HUMAN
- E9PN02_HUMAN
- E9PQ67_HUMAN
- E9PQ78_HUMAN
- E9PQL4_HUMAN
- L8EBC2_HUMAN
Variants for SOX6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX6 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1313026962 | Likely Benign: not specified | 15,989,233(-) | G/A | INTRON_VARIANT | |
| rs1554941241 | Uncertain Significance: not provided | 16,183,945(-) | G/A | NONSENSE |
Residual Variation Intolerance Score:
2.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.04;
21.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX6 Gene
Disorders for SOX6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| arthrogryposis, distal, type 1b |
|
|
| arthrogryposis, distal, type 2a |
|
|
| arthrogryposis, distal, type 1a |
|
|
| campomelic dysplasia |
|
|
| thalassemia |
|
|
Search SOX6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SOX6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SOX6 Gene
Publications for SOX6 Gene
- Cloning, characterization and chromosome mapping of the human SOX6 gene. (PMID: 11255018) Cohen-Barak O … Brilliant MH (Gene 2001) 2 3 4 23
- Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. (PMID: 19714249) Liu YZ … Deng HW (PloS one 2009) 3 23 41
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C … Sacco RL (Stroke 2010) 3 41
ExternalLinks
Products for SOX6 Gene
- Custom Antibody ServicesOriGene Antibodies for SOX6
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SOX6
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX6
- Origene Custom Protein Services for SOX6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX6
- Browse OriGene Inhibitory RNA Products For SOX6
- OriGene qPCR primer pairs for SOX6
- OriGene CRISPR knockouts for SOX6
- MG210647
- MG227129
- MG227148
- MR210647
- MR210647L3
- MR210647L4
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- RC211525
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- RG211525
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- RR208300
- RR208300L3
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- MR210647L3V
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- MR227129L3V
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- MR227148L3V
- MR227148L4V
- RC211525L3V
- RC211525L4V
- RC212046L1V
- RC212046L2V
- RC212046L3V
- RC212046L4V
- RC227487L3V
- RC227487L4V
- RC227953L3V
- RC227953L4V
- RR208300L3V
- RR208300L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SOX6
- Sino Biological Human cDNA Clone for SOX6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SOX6
- Novus Biologicals proteins and lysates for SOX6
- Browse Antibodies
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- Abcam antibodies for SOX6
- Abcam proteins for SOX6
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- Browse Primary Antibodies
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- Invitrogen Antibodies for SOX6 (AFLGC-SOX6)
- VectorBuilder Custom and pre-made DNA vectors for SOX6 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SOX6 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SOX6 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SOX6 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SOX6
- antibodies-online: Show 19 available SOX6 Antibodies ranked by validation data
- antibodies-online: Search results for available SOX6 related products ranked by validation data
- antibodies-online: Search results for available SOX6 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SOX6
- Search Santa Cruz Biotechnology (SCBT) for SOX6 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SOX6
- Horizon Cell Lines for SOX6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX6
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SOX6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX6
Sources for SOX6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB