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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, such as syndecan binding protein (syntenin). The protein may function ... See more...
Aliases for SOX4 Gene
Aliases for SOX4 Gene
External Ids for SOX4 Gene
- HGNC: 11200
- NCBI Entrez Gene: 6659
- Ensembl: ENSG00000124766
- OMIM®: 184430
- UniProtKB/Swiss-Prot: Q06945
Previous GeneCards Identifiers for SOX4 Gene
- GC06P021651
- GC06P021701
Summaries for SOX4 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX4 Gene
SOX4 (SRY-Box Transcription Factor 4) is a Protein Coding gene. Diseases associated with SOX4 include Coffin-Siris Syndrome 10 and Coffin-Siris Syndrome 1. Among its related pathways are Signaling by GPCR and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is SOX11.
UniProtKB/Swiss-Prot Summary for SOX4 Gene
-
Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity).
Additional gene information for SOX4 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX4 Gene
Genomics for SOX4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SOX4 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 SOX4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX4
- Top Transcription factor binding sites by QIAGEN in the SOX4 gene promoter:
-
- AREB6
- E47
- FOXD3
- Hand1
- HTF
- IRF-1
- ITF-2
- NCX
- Pax-4a
- STAT5B
Genomic Locations for SOX4 Gene
Latest Assembly
- chr6:21,593,751-21,598,619
- (GRCh38/hg38)
- Size:
- 4,869 bases
- Orientation:
- Plus strand
Previous Assembly
- chr6:21,593,982-21,598,850
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 4,869 bases
- Orientation:
- Plus strand
Genomic View for SOX4 Gene
Genes around SOX4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.3 by HGNC
- 6p22.3 by Entrez Gene
- 6p22.3 by Ensembl
SOX4 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 SOX4 Gene
Proteins for SOX4 Gene
-
Protein details for SOX4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q06945-SOX4_HUMAN
- Recommended name:
- Transcription factor SOX-4
- Protein Accession:
- Q06945
Protein attributes for SOX4 Gene
- Size:
- 474 amino acids
- Molecular mass:
- 47263 Da
- Quaternary structure:
-
- Interacts with UBE2I.
Protein Expression for SOX4 Gene
Post-translational modifications for SOX4 Gene
Other Protein References for SOX4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SOX4 Antibody
- G Biosciences Immunotag™ SOX4 Antibody
- NSJ Bioreagents SOX4 Antibody
- Novus Biologicals Antibodies for SOX4
-
Abcam antibodies for SOX4
- Invitrogen Antibodies for SOX4 (AFLGC-SOX4)
- antibodies-online: Show 17 available SOX4 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX4
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX4
- Origene Custom Protein Services for SOX4
- antibodies-online: Search results for available SOX4 related products ranked by validation data
-
Abcam proteins for SOX4
Assay products for research
- antibodies-online: Search results for available SOX4 related products ranked by validation data
No data available for DME Specific Peptides for SOX4 Gene
Domains & Families for SOX4 Gene
Gene Families for SOX4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX4 Gene
- InterPro:
Suggested Antigen Peptide Sequences for SOX4 Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription factor SOX-4 (SOX4_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX4 Gene
Function for SOX4 Gene
Molecular function for SOX4 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity).
- GENATLAS Biochemistry:
- SRY related HMG box gene 4,transcriptional activator in embryonic heart,developing CNS,lung,tooth-bud,mesonephros,genitalia,pre B and T cells,controlled by progesterone,expressed in normal breast and in breast cancer cells,modulator of LINE retroposons promoter activity
Phenotypes From GWAS Catalog for SOX4 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 | IEA,IDA | 20049565 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,ISS | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for SOX4 Gene
- MGI mutant phenotypes for SOX4:
-
inferred from 6 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SOX4:
-
- Decreased viability
- no effect
- Decreased viability ratio
- Increased S DNA content
- Decreased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with c-Myc after tamoxifen stimulation
Animal Models for SOX4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SOX4 - Starting at $85 >
- * SOX4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SOX4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX4
miRNA for SOX4 Gene
- miRTarBase miRNAs that target SOX4
-
- hsa-miR-335-5p (MIRT002431)
- hsa-miR-129-5p (MIRT004043)
- hsa-miR-191-5p (MIRT004691)
- mmu-miR-122-5p (MIRT005991)
- hsa-miR-129-2-3p (MIRT006648)
- hsa-miR-204-5p (MIRT007100)
- hsa-miR-138-5p (MIRT007335)
- mmu-miR-362-5p (MIRT008915)
- mmu-miR-340-5p (MIRT010420)
- mmu-miR-34b-5p (MIRT012824)
- mmu-miR-30e-5p (MIRT013398)
- hsa-miR-151a-5p (MIRT019525)
- hsa-miR-340-5p (MIRT019646)
- hsa-miR-30b-5p (MIRT023445)
- hsa-miR-98-5p (MIRT027786)
- hsa-miR-30c-5p (MIRT047893)
- hsa-miR-17-5p (MIRT050802)
- hsa-miR-21-3p (MIRT099724)
- hsa-miR-1253 (MIRT099725)
- hsa-miR-3591-3p (MIRT099726)
- hsa-miR-6884-3p (MIRT099727)
- hsa-miR-3653-3p (MIRT099739)
- hsa-miR-3658 (MIRT099740)
- hsa-miR-548c-3p (MIRT099747)
- hsa-miR-2392 (MIRT099764)
- hsa-miR-4435 (MIRT099770)
- hsa-miR-6082 (MIRT099774)
- hsa-miR-129-1-3p (MIRT099775)
- hsa-miR-139-3p (MIRT099776)
- hsa-miR-4276 (MIRT099778)
- hsa-miR-4428 (MIRT099779)
- hsa-miR-4687-5p (MIRT099780)
- hsa-miR-6779-3p (MIRT099781)
- hsa-miR-6853-5p (MIRT099782)
- hsa-miR-6886-3p (MIRT099783)
- hsa-miR-3613-3p (MIRT099785)
- hsa-miR-30a-5p (MIRT099796)
- hsa-miR-30d-5p (MIRT099797)
- hsa-miR-30e-5p (MIRT099798)
- hsa-miR-539-5p (MIRT099799)
- hsa-miR-573 (MIRT099800)
- hsa-miR-596 (MIRT099801)
- hsa-miR-3158-5p (MIRT099802)
- hsa-miR-3616-5p (MIRT099803)
- hsa-miR-4531 (MIRT099805)
- hsa-miR-4795-5p (MIRT099806)
- hsa-miR-4802-3p (MIRT099807)
- hsa-miR-4475 (MIRT099815)
- hsa-miR-19a-3p (MIRT099822)
- hsa-miR-19b-3p (MIRT099823)
- hsa-miR-20a-5p (MIRT099824)
- hsa-miR-93-5p (MIRT099825)
- hsa-miR-106a-5p (MIRT099826)
- hsa-miR-203a-5p (MIRT099827)
- hsa-miR-130a-3p (MIRT099828)
- hsa-miR-106b-5p (MIRT099829)
- hsa-miR-299-5p (MIRT099830)
- hsa-miR-301a-3p (MIRT099832)
- hsa-miR-130b-3p (MIRT099833)
- hsa-miR-20b-5p (MIRT099834)
- hsa-miR-519c-3p (MIRT099835)
- hsa-miR-526b-3p (MIRT099836)
- hsa-miR-519b-3p (MIRT099837)
- hsa-miR-519d-3p (MIRT099838)
- hsa-miR-519a-3p (MIRT099839)
- hsa-miR-576-3p (MIRT099840)
- hsa-miR-454-3p (MIRT099841)
- hsa-miR-301b-3p (MIRT099842)
- hsa-miR-548t-5p (MIRT099843)
- hsa-miR-4295 (MIRT099844)
- hsa-miR-3666 (MIRT099845)
- hsa-miR-1273g-5p (MIRT099851)
- hsa-miR-548aw (MIRT099852)
- hsa-miR-548az-5p (MIRT099853)
- hsa-miR-6882-5p (MIRT099854)
- hsa-miR-4307 (MIRT099878)
- hsa-miR-25-3p (MIRT099901)
- hsa-miR-32-5p (MIRT099902)
- hsa-miR-92a-3p (MIRT099903)
- hsa-miR-363-3p (MIRT099904)
- hsa-miR-367-3p (MIRT099905)
- hsa-miR-432-3p (MIRT099906)
- hsa-miR-92b-3p (MIRT099907)
- hsa-miR-561-3p (MIRT099908)
- hsa-miR-1279 (MIRT099910)
- hsa-miR-3134 (MIRT099911)
- hsa-miR-4720-5p (MIRT099937)
- hsa-miR-4799-3p (MIRT099938)
- hsa-miR-5588-5p (MIRT099939)
- hsa-miR-3065-5p (MIRT099950)
- hsa-miR-7159-5p (MIRT099953)
- hsa-miR-6885-3p (MIRT122661)
- hsa-miR-185-3p (MIRT168126)
- hsa-miR-4656 (MIRT168127)
- hsa-miR-4688 (MIRT168128)
- hsa-miR-6085 (MIRT168130)
- hsa-miR-6743-5p (MIRT168131)
- hsa-miR-6789-5p (MIRT168132)
- hsa-miR-6813-5p (MIRT168133)
- hsa-miR-548d-3p (MIRT168136)
- hsa-miR-548h-3p (MIRT168137)
- hsa-miR-548z (MIRT168141)
- hsa-miR-548ac (MIRT168142)
- hsa-miR-548bb-3p (MIRT168153)
- hsa-miR-3529-3p (MIRT260611)
- hsa-miR-1252-5p (MIRT317178)
- hsa-miR-3163 (MIRT317179)
- hsa-miR-211-5p (MIRT317185)
- hsa-miR-6832-3p (MIRT317196)
- hsa-miR-3127-3p (MIRT360220)
- hsa-miR-6756-3p (MIRT360222)
- hsa-miR-3618 (MIRT378435)
- hsa-miR-1292-5p (MIRT437378)
- hsa-miR-4470 (MIRT467375)
- hsa-miR-1193 (MIRT467376)
- hsa-miR-1468-3p (MIRT485078)
- hsa-miR-548x-5p (MIRT485079)
- hsa-miR-548g-5p (MIRT485080)
- hsa-miR-548f-5p (MIRT485081)
- hsa-miR-548aj-5p (MIRT485082)
- hsa-miR-548x-3p (MIRT492171)
- hsa-miR-548j-3p (MIRT492172)
- hsa-miR-548aq-3p (MIRT492173)
- hsa-miR-548am-3p (MIRT492174)
- hsa-miR-548aj-3p (MIRT492175)
- hsa-miR-548ah-3p (MIRT492176)
- hsa-miR-548ae-3p (MIRT492177)
- hsa-miR-3622b-5p (MIRT505536)
- hsa-miR-489-3p (MIRT505537)
- hsa-miR-602 (MIRT534100)
- hsa-miR-1267 (MIRT561526)
- hsa-miR-4278 (MIRT561527)
- hsa-miR-6824-5p (MIRT561528)
- hsa-miR-5703 (MIRT561529)
- hsa-miR-4516 (MIRT561530)
- hsa-miR-4434 (MIRT561531)
- hsa-miR-5684 (MIRT565513)
- hsa-miR-618 (MIRT565514)
- hsa-miR-5582-3p (MIRT565515)
- hsa-miR-548f-3p (MIRT565516)
- hsa-miR-548e-3p (MIRT565517)
- hsa-miR-548az-3p (MIRT565518)
- hsa-miR-548ar-3p (MIRT565519)
- hsa-miR-548a-3p (MIRT565520)
- hsa-miR-1287-3p (MIRT565521)
- hsa-miR-555 (MIRT565522)
- hsa-miR-5190 (MIRT565523)
- hsa-miR-3662 (MIRT565524)
- hsa-miR-1251-5p (MIRT565525)
- hsa-miR-3187-3p (MIRT574416)
- hsa-miR-588 (MIRT574417)
- hsa-miR-4701-5p (MIRT574418)
- hsa-miR-548s (MIRT574419)
- hsa-miR-6740-5p (MIRT574420)
- hsa-miR-7845-5p (MIRT574421)
- hsa-miR-2681-5p (MIRT622134)
- hsa-miR-4279 (MIRT622135)
- hsa-miR-6749-3p (MIRT622136)
- hsa-miR-5571-5p (MIRT622137)
- hsa-miR-4776-3p (MIRT622138)
- hsa-miR-4659b-5p (MIRT622139)
- hsa-miR-4659a-5p (MIRT622140)
- hsa-miR-5590-5p (MIRT622141)
- hsa-miR-4790-5p (MIRT622142)
- hsa-miR-4315 (MIRT622143)
- hsa-miR-95-5p (MIRT622144)
- hsa-miR-338-3p (MIRT731415)
- hsa-miR-132-3p (MIRT732559)
- hsa-miR-212-3p (MIRT732560)
- hsa-miR-140-5p (MIRT733175)
- hsa-miR-31-5p (MIRT733212)
- mmu-miR-132-3p (MIRT733470)
- hsa-miR-369-3p (MIRT734203)
- mmu-miR-29b-1-5p (MIRT734531)
- hsa-miR-133a-3p (MIRT734558)
Targeted motifs for SOX4 Gene
HOMER Transcription Factor Regulatory Elements motif SOX4
- Consensus sequence: YCTTTGTTCC Submotif: canonical Cell Type: proB GEO ID: GSE50066
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX4
- Browse OriGene Inhibitory RNA Products For SOX4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX4
Clone products for research
- Applied Biological Materials (abm): Clones for SOX4 - Starting at $45 >
- * SOX4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SOX4
- Addgene plasmids for SOX4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX4
Cell Lines for research
-
Horizon Cell Lines for SOX4
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SOX4 Gene
Localization for SOX4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX4 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
- Mitochondria (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 16631117 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 17875931 |
Pathways & Interactions for SOX4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Wnt |
.71
|
|
| 2 | MicroRNAs in cancer | ||
| 3 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
| 4 | Deactivation of the beta-catenin transactivating complex | ||
| 5 | Signaling by GPCR | ||
Pathways by source for SOX4 Gene
4 Reactome pathways for SOX4 Gene
1 KEGG pathway for SOX4 Gene
1 Qiagen pathway for SOX4 Gene
- Molecular Mechanisms of Cancer
Interacting Proteins for SOX4 Gene
Selected Interacting proteins:
Q06945-SOX4_HUMAN
ENSP00000244745
for SOX4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SOX4
SIGNOR curated interactions for SOX4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IEA,ISS | -- |
| GO:0001841 | neural tube formation | IEA,ISS | -- |
| GO:0002328 | pro-B cell differentiation | IEA,ISS | -- |
| GO:0003183 | mitral valve morphogenesis | IEA,ISS | -- |
| GO:0003211 | cardiac ventricle formation | IEA,ISS | -- |
Transcripts for SOX4 Gene
mRNA/cDNA for SOX4 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000244745 4869 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SOX4 - Starting at $85 >
- * SOX4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SOX4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX4
- Browse OriGene Inhibitory RNA Products For SOX4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX4
Clone products for research
- Applied Biological Materials (abm): Clones for SOX4 - Starting at $45 >
- * SOX4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SOX4
- Addgene plasmids for SOX4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX4
Relevant External Links for SOX4 Gene
- GeneLoc Exon Structure for
- SOX4
Expression for SOX4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Plasmacytoid Dendritic cells Peripheral Blood
- Megakaryocyte-Erythroid Precursor Cells Hematopoietic Bone Marrow
- Conventional Dendritic Cells II Spleen
-
Heart (Cardiovascular System)
- Outflow Tract Cushion Cells Outflow Tract Cushion
- Atrioventricular Canal Cells Atrioventricular Canal
- Outflow Tract
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Optic Nerve
- Bone (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Spleen (Hematopoietic System)
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Lung (Respiratory System)
- Limb (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Thymus (Hematopoietic System)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for SOX4 Gene
This gene is overexpressed in Ovary (x4.9).
This gene is overexpressed in Brain (63.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX4 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX4
SOURCE GeneReport for Unigene cluster for SOX4 Gene:
Hs.643910mRNA Expression by UniProt/SwissProt for SOX4 Gene:
Q06945-SOX4_HUMAN
Tissue specificity:
Testis, brain, and heart.
Evidence on tissue expression from TISSUES for SOX4 Gene
- Lung(4.2)
- Liver(4.2)
- Nervous system(4.1)
- Stomach(3.4)
- Intestine(3.2)
- Heart(3.2)
- Blood(2.9)
- Eye(2.8)
- Kidney(2.8)
- Muscle(2.7)
- Skin(2.7)
- Lymph node(2.4)
- Bone marrow(2.3)
- Spleen(2.2)
- Pancreas(2.1)
Primer products for research
-
OriGene qPCR primer pairs for SOX4
-
OriGene qPCR primer pairs and template standards for SOX4
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX4 Gene
Orthologs for SOX4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SOX4 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SOX4 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SOX4 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sox4 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sox4 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SOX4 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX4 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox4 29 |
|
||
| Str.9180 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68880 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sox4b 29 30 |
|
OneToMany | |
| sox4a 30 |
|
OneToMany | |||
| -- 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sox14 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sem-2 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10865 30 |
|
OneToMany |
- Species where no ortholog for SOX4 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)
- Chicken (Gallus gallus)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- 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 SOX4 Gene
- ENSEMBL:
- Gene Tree for SOX4 (if available)
- TreeFam:
- Gene Tree for SOX4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX4: view image
- Alliance of Genome Resources:
- Additional Orthologs for SOX4
Paralogs for SOX4 Gene
Paralogs for SOX4 Gene
Variants for SOX4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX4 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1029670 | Uncertain Significance: Coffin-Siris syndrome 10 | 21,595,280(+) |
C/A NM_003107.3(SOX4):c.746C>A (p.Pro249His) |
MISSENSE | |
| 870826 | Uncertain Significance: not provided | 21,594,812(+) |
T/A NM_003107.3(SOX4):c.278T>A (p.Leu93Gln) |
MISSENSE | |
| 873506 | Uncertain Significance: SOX4-related neurodevelopmental disorder | 21,595,000(+) |
G/C NM_003107.3(SOX4):c.466G>C (p.Asp156His) |
MISSENSE | |
| 931190 | Uncertain Significance: Coffin-Siris syndrome 10 | 21,595,228(+) |
GCCGCCGCCGCCT/G NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del) |
INFRAME_DELETION | |
| 982764 | Uncertain Significance: Coffin-Siris syndrome 10 | 21,595,841(+) |
T/TC NM_003107.3(SOX4):c.1308dup (p.Glu437fs) |
FRAMESHIFT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1145094 | CNV | deletion | 24896259 |
Residual Variation Intolerance Score:
41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.10;
38.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX4 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX4 Gene
Disorders for SOX4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coffin-siris syndrome 10 |
|
|
| coffin-siris syndrome 1 |
|
|
| osteogenic sarcoma |
|
|
| adenoid cystic carcinoma |
|
|
| pediatric osteosarcoma |
|
|
Search SOX4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SOX4_HUMAN- Coffin-Siris syndrome 10 (CSS10) [MIM:618506]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. CSS10 inheritance is autosomal dominant. {ECO:0000269 PubMed:30661772}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for SOX4
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SOX4 Gene
Publications for SOX4 Gene
- De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. (PMID: 30661772) Zawerton A … Lefebvre V (American journal of human genetics 2019) 3 4 72
- Ubc9 interacts with SOX4 and represses its transcriptional activity. (PMID: 16631117) Pan X … Zhang X (Biochemical and biophysical research communications 2006) 3 4 22
- Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3. (PMID: 9730625) Critcher R … Farr CJ (Cytogenetics and cell genetics 1998) 2 3 22
- Characterization and mapping of the human SOX4 gene. (PMID: 8268656) Farr CJ … Goodfellow PN (Mammalian genome : official journal of the International Mammalian Genome Society 1993) 2 3 4
- Long non-coding RNA Sox4 promotes proliferation and migration by activating Wnt/β-catenin signaling pathway in osteosarcoma. (PMID: 29441981) Tian Z … Sun S (Die Pharmazie 2017) 3 72
ExternalLinks
Products for SOX4 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX4
- Origene Custom Protein Services for SOX4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX4
- Browse OriGene Inhibitory RNA Products For SOX4
- OriGene qPCR primer pairs for SOX4
- OriGene qPCR primer pairs and template standards for SOX4
- OriGene CRISPR knockouts for SOX4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SOX4
- Sino Biological Human cDNA Clone for SOX4
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
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- Browse Sino Biological Assays
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for SOX4
- Novus Biologicals proteins and lysates for SOX4
- Browse Antibodies
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- Abcam antibodies for SOX4
- Abcam proteins for SOX4
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- Browse Primary Antibodies
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- Browse Monoclonal Antibodies
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- Invitrogen Antibodies for SOX4 (AFLGC-SOX4)
- VectorBuilder Custom and pre-made DNA vectors for SOX4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SOX4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SOX4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SOX4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SOX4
- Addgene plasmids for SOX4
- antibodies-online: Show 17 available SOX4 Antibodies ranked by validation data
- antibodies-online: Search results for available SOX4 related products ranked by validation data
- antibodies-online: Search results for available SOX4 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SOX4
- Search Santa Cruz Biotechnology (SCBT) for SOX4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SOX4
- Horizon Cell Lines for SOX4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SOX4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX4
Sources for SOX4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources