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This intronless 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 regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a r... See more...
Aliases for SOX11 Gene
Aliases for SOX11 Gene
External Ids for SOX11 Gene
- HGNC: 11191
- Entrez Gene: 6664
- Ensembl: ENSG00000176887
- OMIM: 600898
- UniProtKB: P35716
Previous GeneCards Identifiers for SOX11 Gene
- GC02P005617
- GC02P005884
- GC02P005854
- GC02P005783
- GC02P005834
- GC02P005842
- GC02P005694
- GC02P005697
- GC02P005706
- GC02P005707
- GC02P005705
- GC02P005704
- GC02P005698
- GC02P005699
- GC02P005700
- GC02P005701
- GC02P005702
Summaries for SOX11 Gene
-
This intronless 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 regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX11 Gene
SOX11 (SRY-Box Transcription Factor 11) is a Protein Coding gene. Diseases associated with SOX11 include Coffin-Siris Syndrome 9 and Coffin-Siris Syndrome 1. Among its related pathways are Preimplantation Embryo and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is SOX4.
UniProtKB/Swiss-Prot Summary for SOX11 Gene
-
Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).
Additional gene information for SOX11 Gene
- HGNC(11191)
- Entrez Gene(6664)
- Ensembl(ENSG00000176887)
- OMIM(600898)
- UniProtKB(P35716)
- Open Targets Platform(ENSG00000176887)
- Monarch Initiative
- Search for SOX11 at DataMed
- Search for SOX11 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX11 Gene
Genomics for SOX11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SOX11 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 SOX11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX11
- Top Transcription factor binding sites by QIAGEN in the SOX11 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- AP-2beta
- AP-2gamma
- HEN1
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT4
- Sp1
Genomic Locations for SOX11 Gene
Genomic Locations for SOX11 Gene
- chr2:5,692,384-5,701,385
- (GRCh38/hg38)
- Size:
- 9,002 bases
- Orientation:
- Plus strand
- chr2:5,832,799-5,841,517
- (GRCh37/hg19)
- Size:
- 8,719 bases
- Orientation:
- Plus strand
Genomic View for SOX11 Gene
Genes around SOX11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p25.2 by HGNC
- 2p25.2 by Entrez Gene
- 2p25.2 by Ensembl
SOX11 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 SOX11 Gene
Proteins for SOX11 Gene
-
Protein details for SOX11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35716-SOX11_HUMAN
- Recommended name:
- Transcription factor SOX-11
- Protein Accession:
- P35716
- Q4ZFV8
Protein attributes for SOX11 Gene
- Size:
- 441 amino acids
- Molecular mass:
- 46679 Da
- Quaternary structure:
- No Data Available
Protein Expression for SOX11 Gene
Post-translational modifications for SOX11 Gene
Other Protein References for SOX11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SOX11 Antibody
- G Biosciences Immunotag™ Sox-11 Antibody
- Novus Biologicals Antibodies for SOX11
-
Abcam antibodies for SOX11
- Invitrogen Antibodies for SOX11 (AFLGC-SOX11)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX11
- Sino Biological Antibodies for SOX11
Protein Products
-
OriGene Purified Proteins for SOX11
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX11
- Origene Custom Protein Services for SOX11
No data available for DME Specific Peptides for SOX11 Gene
Domains & Families for SOX11 Gene
Gene Families for SOX11 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX11 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SOX11 Gene
- GenScript: Design optimal peptide antigens:
-
- SOX11 protein (Q05CH0_HUMAN)
- Transcription factor SOX-11 (SOX11_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX11 Gene
Function for SOX11 Gene
Molecular function for SOX11 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).
- GENATLAS Biochemistry:
- SRY related HMG box gene 11,expressed in the developing central and peripheral nervous system,somites,developing limbs,facial mesenchyme,kidney,lung,specific postmitotic neuronal subpopulation,modulator of LINE retroposons promoter activity
Phenotypes From GWAS Catalog for SOX11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA,ISS | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 21124928 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0000987 | proximal promoter sequence-specific DNA binding | IEA,IDA | 19808959 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,ISS | -- |
Phenotypes for SOX11 Gene
- MGI mutant phenotypes for SOX11:
-
inferred from 6 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SOX11:
Animal Models for SOX11 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX11 - Select products 50% OFF >
- * SOX11 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 SOX11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX11
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX11
miRNA for SOX11 Gene
- miRTarBase miRNAs that target SOX11
-
- mmu-miR-340-5p (MIRT010433)
- hsa-miR-148b-3p (MIRT019474)
- hsa-miR-128-3p (MIRT022064)
- hsa-miR-339-5p (MIRT042780)
- hsa-miR-145-5p (MIRT053649)
- hsa-miR-221-3p (MIRT053725)
- mmu-miR-204-5p (MIRT054234)
- hsa-miR-550a-5p (MIRT243150)
- hsa-miR-550a-3-5p (MIRT243152)
- hsa-miR-1271-3p (MIRT243153)
- hsa-miR-25-3p (MIRT243158)
- hsa-miR-32-5p (MIRT243159)
- hsa-miR-92a-3p (MIRT243160)
- hsa-miR-363-3p (MIRT243161)
- hsa-miR-367-3p (MIRT243162)
- hsa-miR-92b-3p (MIRT243163)
- hsa-miR-1252-3p (MIRT243164)
- hsa-miR-3662 (MIRT243165)
- hsa-miR-4698 (MIRT243166)
- hsa-miR-4760-5p (MIRT243167)
- hsa-miR-8061 (MIRT243169)
- hsa-miR-7847-3p (MIRT489545)
- hsa-miR-6851-5p (MIRT489546)
- hsa-miR-3689d (MIRT489547)
- hsa-miR-6894-5p (MIRT489548)
- hsa-miR-765 (MIRT489549)
- hsa-miR-7154-3p (MIRT489550)
- hsa-miR-766-5p (MIRT489551)
- hsa-miR-7854-3p (MIRT489552)
- hsa-miR-539-5p (MIRT489553)
- hsa-miR-6754-5p (MIRT489554)
- hsa-miR-4441 (MIRT489555)
- hsa-miR-4270 (MIRT489556)
- hsa-miR-197-3p (MIRT495178)
- hsa-miR-136-3p (MIRT495179)
- hsa-miR-505-3p (MIRT504487)
- hsa-miR-4528 (MIRT504488)
- hsa-miR-3591-3p (MIRT504489)
- hsa-miR-21-3p (MIRT504490)
- hsa-miR-320e (MIRT534101)
- hsa-miR-376a-5p (MIRT534102)
- hsa-miR-550b-2-5p (MIRT534103)
- hsa-miR-7844-5p (MIRT534104)
- hsa-miR-455-5p (MIRT534105)
- hsa-miR-4763-3p (MIRT569834)
- hsa-miR-1207-5p (MIRT569835)
- hsa-miR-940 (MIRT569836)
- hsa-miR-6893-5p (MIRT569837)
- hsa-miR-6808-5p (MIRT569838)
- mmu-miR-653-5p (MIRT580783)
- mmu-miR-335-3p (MIRT593663)
- mmu-miR-673-5p (MIRT593664)
- mmu-miR-27a-3p (MIRT593665)
- mmu-miR-27b-3p (MIRT593666)
- mmu-miR-344e-3p (MIRT594245)
- mmu-miR-410-3p (MIRT594246)
- mmu-miR-344d-3p (MIRT594247)
- hsa-miR-212-3p (MIRT733389)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX11
- Browse OriGene Inhibitory RNA Products For SOX11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX11
Clone Products
- Applied Biological Materials (abm): Clones for SOX11 - Select products 50% OFF >
- * SOX11 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
- Sino Biological Human cDNA Clone for SOX11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX11
Cell Line Products
-
Horizon Cell Lines for SOX11
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SOX11 Gene
Localization for SOX11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX11 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| 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 | IBA,IDA | 17934069 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005667 | transcription factor complex | IBA | 21873635 |
| GO:0005737 | cytoplasm | IDA | 17934069 |
Pathways & Interactions for SOX11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
| 2 | Preimplantation Embryo | ||
Pathways by source for SOX11 Gene
1 BioSystems pathway for SOX11 Gene
1 Qiagen pathway for SOX11 Gene
- Molecular Mechanisms of Cancer
Interacting Proteins for SOX11 Gene
GPS-Prot Interaction Network for SOX11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 19808959 |
| GO:0001501 | skeletal system development | IEA,ISS | -- |
| GO:0001822 | kidney development | IEA | -- |
| GO:0001841 | neural tube formation | IEA,ISS | -- |
| GO:0002089 | lens morphogenesis in camera-type eye | IEA,ISS | -- |
Transcripts for SOX11 Gene
mRNA/cDNA for SOX11 Gene
- 1 REFSEQ mRNAs :
- 3 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000322002 9002 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOX11 - Select products 50% OFF >
- * SOX11 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 SOX11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX11
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX11
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX11
- Browse OriGene Inhibitory RNA Products For SOX11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX11
Clone Products
- Applied Biological Materials (abm): Clones for SOX11 - Select products 50% OFF >
- * SOX11 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
- Sino Biological Human cDNA Clone for SOX11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX11
Relevant External Links for SOX11 Gene
- GeneLoc Exon Structure for
- SOX11
Expression for SOX11 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SOX11 Gene
This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.3), Brain - Hypothalamus (x5.8), Brain - Caudate (basal ganglia) (x4.5), Brain - Amygdala (x4.3), and Brain - Putamen (basal ganglia) (x4.1).
This gene is overexpressed in Adipocyte (24.4), Pancreatic juice (15.1), Fetal Brain (13.3), and Adrenal (10.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOX11 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX11
SOURCE GeneReport for Unigene cluster for SOX11 Gene:
Hs.432638mRNA Expression by UniProt/SwissProt for SOX11 Gene:
P35716-SOX11_HUMAN
Tissue specificity:
Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle.
Evidence on tissue expression from TISSUES for SOX11 Gene
- Nervous system(4.8)
- Skin(2.4)
- Blood(2.4)
- Heart(2)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- penis
- rectum
- testicle
- ureter
- urethra
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SOX11
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for SOX11 Gene
Orthologs for SOX11 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SOX11 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sox11 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sox11 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SOX11 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX11 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SOX11 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SOX11 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox11 30 |
|
||
| Str.6881 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.891 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sox11a 30 31 |
|
OneToMany | |
| sox11b 31 |
|
OneToMany | |||
| -- 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11903 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sox14 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sem-2 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10865 31 |
|
OneToMany |
- Species where no ortholog for SOX11 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- 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 Vase (Ciona intestinalis)
- 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 SOX11 Gene
- ENSEMBL:
- Gene Tree for SOX11 (if available)
- TreeFam:
- Gene Tree for SOX11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX11: view image
Paralogs for SOX11 Gene
Paralogs for SOX11 Gene
(15) SIMAP similar genes for SOX11 Gene using alignment to 3 proteins:
- SOX11_HUMAN
- L8E7T1_HUMAN
- Q05CH0_HUMAN
Variants for SOX11 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX11 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 666571 | Likely Pathogenic: Mental retardation, autosomal dominant 27 | 5,693,936(+) | CA/C | FRAMESHIFT_VARIANT | |
| 715893 | Likely Benign: not provided | 5,692,784(+) | G/T | SYNONYMOUS_VARIANT | |
| 718393 | Likely Benign: not provided | 5,693,258(+) | G/A | SYNONYMOUS_VARIANT | |
| 722036 | Likely Benign: not provided | 5,693,873(+) | C/T | SYNONYMOUS_VARIANT | |
| 722348 | Likely Benign: not provided | 5,693,345(+) | G/A | SYNONYMOUS_VARIANT |
Gene Damage Index Score:
0.31;
6.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX11 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX11 Gene
Disorders for SOX11 Gene
(16) MalaCards diseases for SOX11 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coffin-siris syndrome 9 |
|
|
| coffin-siris syndrome 1 |
|
|
| mantle cell lymphoma |
|
|
| burkitt lymphoma |
|
|
| charge syndrome |
|
|
Search SOX11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SOX11_HUMAN- Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability. {ECO:0000269 PubMed:24886874}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SOX11
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SOX11 Gene
Publications for SOX11 Gene
- The human SOX11 gene: cloning, chromosomal assignment and tissue expression. (PMID: 8666406) Jay P … Berta P (Genomics 1995) 2 3 4 23
- De novo SOX11 mutations cause Coffin-Siris syndrome. (PMID: 24886874) Tsurusaki Y … Matsumoto N (Nature communications 2014) 3 4
- New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3 41
- Strong lymphoid nuclear expression of SOX11 transcription factor defines lymphoblastic neoplasms, mantle cell lymphoma and Burkitt's lymphoma. (PMID: 19880779) Dictor M … Borrebaeck C (Haematologica 2009) 3 23
- SOX11 expression is highly specific for mantle cell lymphoma and identifies the cyclin D1-negative subtype. (PMID: 19880778) Mozos A … Campo E (Haematologica 2009) 3 23
ExternalLinks
Products for SOX11 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SOX11
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX11
- Origene Custom Protein Services for SOX11
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX11
- Browse OriGene Inhibitory RNA Products For SOX11
- OriGene qPCR primer pairs for SOX11
- OriGene CRISPR knockouts for SOX11
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SOX11
- Sino Biological Human cDNA Clone for SOX11
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SOX11
- Browse Sino Biological Assays
- Browse Antibodies
- 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 SOX11
- Novus Biologicals proteins and lysates for SOX11
- Browse Antibodies
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- Browse Lysates
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- Abcam antibodies for SOX11
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Invitrogen Antibodies for SOX11 (AFLGC-SOX11)
- VectorBuilder Custom and pre-made DNA vectors for SOX11 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SOX11 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SOX11 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SOX11 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SOX11
- antibodies-online: Show 22 available SOX11 Antibodies ranked by validation data
- Compare Top SOX11 Antibodies
- antibodies-online: Search results for available SOX11 related products ranked by validation data
- antibodies-online: Show 7 available SOX11 Proteins ranked by validation data
- Compare Top SOX11 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SOX11
- Search Santa Cruz Biotechnology (SCBT) for SOX11 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SOX11
- Horizon Cell Lines for SOX11
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX11
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SOX11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX11
Sources for SOX11 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