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This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene ... See more...
Aliases for SOX5 Gene
Aliases for SOX5 Gene
External Ids for SOX5 Gene
- HGNC: 11201
- NCBI Entrez Gene: 6660
- Ensembl: ENSG00000134532
- OMIM®: 604975
- UniProtKB/Swiss-Prot: P35711
Previous GeneCards Identifiers for SOX5 Gene
- GC12M024046
- GC12M023696
- GC12M023585
- GC12M023576
- GC12M023452
Summaries for SOX5 Gene
-
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX5 Gene
SOX5 (SRY-Box Transcription Factor 5) is a Protein Coding gene. Diseases associated with SOX5 include Lamb-Shaffer Syndrome and Optic Nerve Hypoplasia, Bilateral. Among its related pathways are Neural Crest Differentiation and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is SOX6.
UniProtKB/Swiss-Prot Summary for SOX5 Gene
-
Transcription factor involved in 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, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. 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 SOX6, 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.
Additional gene information for SOX5 Gene
- HGNC (11201)
- NCBI Entrez Gene (6660)
- Ensembl (ENSG00000134532)
- OMIM® (604975)
- UniProtKB/Swiss-Prot (P35711)
- Open Targets Platform(ENSG00000134532)
- Monarch Initiative
- Search for SOX5 at DataMed
- Search for SOX5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX5 Gene
Genomics for SOX5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SOX5 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J024559 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +0.4 | 435 | 4.7 | ZBTB10 FEZF1 CEBPA ZEB1 ZIC2 SIN3A FOXA2 KLF7 ZNF341 RXRA | HSALNG0089869 SOX5 lnc-SOX5-5 piR-48759-054 LINC00477 | |
| GH12J023943 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250 | +615.2 | 615156 | 7.9 | FEZF1 ZEB1 FOXA2 ZNF740 VEZF1 SAP130 TRIM25 ZNF341 RXRA TEAD3 | SOX5 piR-49713-004 RF00994-221 lnc-SOX5-5 | |
| GH12J023584 | Promoter | 0.3 | EPDnew | 277.2 | +978.1 | 978095 | 0.1 | SOX5 ENSG00000256473 piR-33432-106 ETNK1 lnc-SOX5-5 | ||
| GH12J023585 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 63.4 | +977.1 | 977077 | 1.6 | YY1 RBM22 ZBTB33 TAF1 RFX1 EGR1 SP1 POU5F1 POLR2A CHAMP1 | SOX5 ENSG00000256473 piR-33432-106 lnc-SOX5-5 ETNK1 | |
| GH12J023626 | Enhancer | 0.4 | FANTOM5 Ensembl | 31.9 | +935.4 | 935400 | 1 | SOX5 LOC105369697 ENSG00000256473 lnc-SOX5-5 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SOX5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX5
- Top Transcription factor binding sites by QIAGEN in the SOX5 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- PPAR-gamma1
- PPAR-gamma2
- SRY
Genomic Locations for SOX5 Gene
Latest Assembly
- chr12:23,529,499-24,562,701
- (GRCh38/hg38)
- Size:
- 1,033,203 bases
- Orientation:
- Minus strand
Previous Assembly
- chr12:23,682,438-24,715,425
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 1,032,988 bases
- Orientation:
- Minus strand
- chr12:23,682,440-24,103,966
- (GRCh37/hg19 by Ensembl)
- Size:
- 421,527 bases
- Orientation:
- Minus strand
Genomic View for SOX5 Gene
Genes around SOX5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
SOX5 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 SOX5 Gene
Proteins for SOX5 Gene
-
Protein details for SOX5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35711-SOX5_HUMAN
- Recommended name:
- Transcription factor SOX-5
- Protein Accession:
- P35711
- B7Z8V0
- F5H5B0
- Q86UK8
- Q8J017
- Q8J018
- Q8J019
- Q8J020
- Q8N1D9
- Q8N7E0
- Q8TEA4
Protein attributes for SOX5 Gene
- Size:
- 763 amino acids
- Molecular mass:
- 84026 Da
- Quaternary structure:
-
- Forms homodimers and heterodimers with SOX6.
- SequenceCaution:
-
- Sequence=AAB49537.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SOX5 Gene
Post-translational modifications for SOX5 Gene
Other Protein References for SOX5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011519134.1
- XP_011519135.1
- XP_011519136.1
- XP_011519137.1
- XP_011519139.1
- XP_011519140.1
- XP_011519144.1
- XP_016875377.1
- XP_016875378.1
- XP_016875379.1
- XP_016875380.1
- XP_016875381.1
- XP_016875382.1
- XP_016875383.1
- XP_016875384.1
- XP_016875385.1
- XP_016875386.1
- XP_016875387.1
- XP_016875388.1
- XP_016875389.1
- XP_016875390.1
- XP_016875391.1
- XP_016875392.1
- XP_024304918.1
- XP_024304919.1
- XP_024304920.1
- XP_024304921.1
- XP_024304922.1
- XP_024304923.1
- XP_024304925.1
- XP_024304926.1
- XP_024304927.1
- XP_024304928.1
- XP_024304929.1
- XP_024304931.1
- XP_024304932.1
- XP_024304933.1
- NP_001248343.1
- NP_001248344.1
- NP_001317714.1
- NP_008871.3
- NP_694534.1
- NP_821078.1
Antibodies for research
- LifeSpan BioSciences SOX5 Antibody
- Novus Biologicals Antibodies for SOX5
-
Abcam antibodies for SOX5
- Invitrogen Antibodies for SOX5 (AFLGC-SOX5)
- antibodies-online: Show 13 available SOX5 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOX5
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX5
- Origene Custom Protein Services for SOX5
- antibodies-online: Show 5 available SOX5 Proteins ranked by validation data
- Compare Top SOX5 Proteins
-
Quality Products:
-
Abcam proteins for SOX5
Assay products for research
- antibodies-online: Show 3 available SOX5 Elisa Kits ranked by validation data
- Compare Top SOX5 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SOX5 Gene
Domains & Families for SOX5 Gene
Gene Families for SOX5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SOX5 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SOX5 Gene
- GenScript: Design optimal peptide antigens:
-
- SOX5 protein (Q6IBT9_HUMAN)
- Transcription factor SOX-5 (SOX5_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX5 Gene
Function for SOX5 Gene
Molecular function for SOX5 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor involved in 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, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. 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 SOX6, 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.
- GENATLAS Biochemistry:
- SRY related HMG box gene 5,expressed in brain,testis and various tissues,with alternatively spliced isoforms,including a long form expressed in chondrogenesis coactivator in association with SOX6 and SOX9 of the chondrocyte-specific enhancer of COL2A1,modulator of LINE retroposons promoter activity
Phenotypes From GWAS Catalog for SOX5 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 | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for SOX5 Gene
- MGI mutant phenotypes for SOX5:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for SOX5:
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 SOX5 - Starting at $85 >
- * SOX5 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 SOX5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX5
miRNA for SOX5 Gene
- miRTarBase miRNAs that target SOX5
-
- hsa-miR-21-5p (MIRT000960)
- hsa-miR-194-5p (MIRT006327)
- hsa-miR-335-5p (MIRT016813)
- hsa-miR-1-3p (MIRT023491)
- hsa-miR-26b-5p (MIRT028774)
- hsa-miR-96-5p (MIRT053393)
- hsa-miR-130a-3p (MIRT053638)
- hsa-miR-181a-5p (MIRT053681)
- hsa-miR-132-3p (MIRT054894)
- hsa-miR-15a-5p (MIRT054895)
- hsa-miR-16-5p (MIRT054896)
- hsa-miR-1231 (MIRT441394)
- hsa-miR-632 (MIRT441395)
- hsa-miR-4288 (MIRT441396)
- hsa-miR-548s (MIRT441397)
- hsa-miR-3926 (MIRT441398)
- hsa-miR-4766-5p (MIRT441399)
- hsa-miR-1277-5p (MIRT441400)
- hsa-miR-3924 (MIRT503324)
- hsa-miR-190a-3p (MIRT503325)
- hsa-miR-6867-5p (MIRT503326)
- hsa-miR-223-5p (MIRT503327)
- hsa-miR-511-3p (MIRT503328)
- hsa-miR-5011-5p (MIRT503329)
- hsa-miR-574-5p (MIRT508326)
- hsa-miR-5580-3p (MIRT508327)
- hsa-miR-555 (MIRT520979)
- hsa-miR-374a-3p (MIRT534098)
- hsa-miR-136-3p (MIRT534099)
- hsa-miR-4704-5p (MIRT572336)
- hsa-miR-3529-3p (MIRT572337)
- hsa-miR-6759-5p (MIRT573462)
- hsa-miR-6793-5p (MIRT573463)
- hsa-miR-6748-5p (MIRT573464)
- hsa-miR-933 (MIRT720546)
- hsa-miR-4783-5p (MIRT720547)
- hsa-miR-3607-5p (MIRT720548)
- mmu-miR-21a-5p (MIRT733009)
Transcription Factor Targets for SOX5 Gene
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX5
- Browse OriGene Inhibitory RNA Products For SOX5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX5
Clone products for research
- Applied Biological Materials (abm): Clones for SOX5 - Starting at $45 >
- * SOX5 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.
-
- MG225690
- MG225691
- MR225690
- MR225690L3
- MR225690L4
- MR225691
- MR230862
- RC219387
- RC219387L1
- RC219387L2
- RC219387L3
- RC219387L4
- RC224228
- RC224228L1
- RC224228L2
- RC224228L3
- RC224228L4
- RC224271
- RC224271L3
- RC224271L4
- RC234638
- RC234836
- RG219387
- RG224228
- RG224271
- RG234638
- RG234836
- RR217186
- MR225690L3V
- MR225690L4V
- RC219387L1V
- RC219387L2V
- RC219387L3V
- RC219387L4V
- RC224228L1V
- RC224228L2V
- RC224228L3V
- RC224228L4V
- RC224271L3V
- RC224271L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SOX5
- Addgene plasmids for SOX5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX5
Cell Lines for research
-
Horizon Cell Lines for SOX5
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for SOX5 Gene
Localization for SOX5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SOX5 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:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
Pathways & Interactions for SOX5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers | ||
| 2 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
|
|
| 3 | Endochondral Ossification | ||
| 4 | Neural Crest Differentiation | ||
Pathways by source for SOX5 Gene
2 BioSystems pathways for SOX5 Gene
1 R&D Systems pathway for SOX5 Gene
1 Qiagen pathway for SOX5 Gene
- Molecular Mechanisms of Cancer
Interacting Proteins for SOX5 Gene
Selected Interacting proteins:
P35711-SOX5_HUMAN
ENSP00000398273
for SOX5 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SOX5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001502 | cartilage condensation | ISS | -- |
| GO:0002062 | chondrocyte differentiation | ISS | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0006366 | transcription by RNA polymerase II | TAS | 8812465 |
Transcripts for SOX5 Gene
mRNA/cDNA for SOX5 Gene
- 6 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367206 1816 nts (view in UCSC)
- ENST00000381381 3991 nts (view in UCSC)
- ENST00000396007 1379 nts (view in UCSC)
- ENST00000429944 559 nts (view in UCSC)
- ENST00000441133 638 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SOX5 - Starting at $85 >
- * SOX5 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 SOX5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOX5
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX5
- Browse OriGene Inhibitory RNA Products For SOX5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX5
Clone products for research
- Applied Biological Materials (abm): Clones for SOX5 - Starting at $45 >
- * SOX5 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.
-
- MG225690
- MG225691
- MR225690
- MR225690L3
- MR225690L4
- MR225691
- MR230862
- RC219387
- RC219387L1
- RC219387L2
- RC219387L3
- RC219387L4
- RC224228
- RC224228L1
- RC224228L2
- RC224228L3
- RC224228L4
- RC224271
- RC224271L3
- RC224271L4
- RC234638
- RC234836
- RG219387
- RG224228
- RG224271
- RG234638
- RG234836
- RR217186
- MR225690L3V
- MR225690L4V
- RC219387L1V
- RC219387L2V
- RC219387L3V
- RC219387L4V
- RC224228L1V
- RC224228L2V
- RC224228L3V
- RC224228L4V
- RC224271L3V
- RC224271L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SOX5
- Addgene plasmids for SOX5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX5
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for SOX5 Gene
- GeneLoc Exon Structure for
- SOX5
Expression for SOX5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Chondrocytes Rostral Synchondroses
- Chondrocytes Vertebrae
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Rostral Synchondroses
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Chondrocytes Rostral Synchondroses
- Chondrocytes Vertebrae
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Rostral Synchondroses
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
- Cerebral Cortex
- Midbrain tegmentum
-
Head Mesenchyme (Muscoskeletal System)
- Prechondrocytes Branchial Arch 2
- Chondrocytes Branchial Arch 2
-
Neural Tube (Nervous System)
- Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
- Telencephalon
- Lung (Respiratory System)
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
-
Spinal Cord (Nervous System)
- Oligodendrocyte Precursor Cells Spinal Cord White Matter
- Eye (Sensory Organs)
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
- Mesoderm (Gastrulation Derivatives)
-
Testis (Reproductive System)
This gene is overexpressed in Fetal Brain (33.5), Adipocyte (27.0), and Brain (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX5
SOURCE GeneReport for Unigene cluster for SOX5 Gene:
Hs.657542Evidence on tissue expression from TISSUES for SOX5 Gene
- Nervous system(4.8)
- Liver(4.4)
- Heart(4.4)
- Skin(2.1)
Primer products for research
-
OriGene qPCR primer pairs for SOX5
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX5 Gene
Orthologs for SOX5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SOX5 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SOX5 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sox5 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Sox5 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SOX5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SOX5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sox5 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sox102F 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | egl-13 31 32 |
|
OneToMany |
- Species where no ortholog for SOX5 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)
- 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 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 SOX5 Gene
- ENSEMBL:
- Gene Tree for SOX5 (if available)
- TreeFam:
- Gene Tree for SOX5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOX5: view image
Paralogs for SOX5 Gene
Paralogs for SOX5 Gene
(14) SIMAP similar genes for SOX5 Gene using alignment to 9 proteins:
- SOX5_HUMAN
- F5GWL1_HUMAN
- F5H0I3_HUMAN
- F5H876_HUMAN
- G3V0H1_HUMAN
- I3L0A5_HUMAN
- Q6IBT9_HUMAN
- T2CYZ2_HUMAN
- T2CZM2_HUMAN
Pseudogenes.org Pseudogenes for SOX5 Gene
Variants for SOX5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX5 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835565 | Uncertain Significance: not provided | 23,895,899(-) |
T/C NM_006940.6(SOX5):c.164A>G (p.His55Arg) |
MISSENSE | |
| 872102 | Pathogenic: not provided | 23,604,385(-) |
A/C NM_006940.6(SOX5):c.1164+2T>G |
SPLICE_DONOR | |
| 872103 | Pathogenic: not provided | 23,755,687(-) |
C/T NM_006940.6(SOX5):c.519G>A (p.Trp173Ter) |
NONSENSE | |
| 873457 | Likely Pathogenic: Lamb-shaffer syndrome | 23,536,652(-) |
T/C NM_006940.6(SOX5):c.1789A>G (p.Met597Val) |
MISSENSE | |
| 973345 | Likely Pathogenic: Lamb-shaffer syndrome | 23,543,309(-) |
C/T NM_006940.6(SOX5):c.1673G>A (p.Arg558His) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
2.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.58;
12.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SOX5 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX5 Gene
Disorders for SOX5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lamb-shaffer syndrome |
|
|
| optic nerve hypoplasia, bilateral |
|
|
| colorectal cancer |
|
|
| strabismus |
|
|
| campomelic dysplasia |
|
|
Search SOX5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SOX5_HUMAN- Lamb-Shaffer syndrome (LAMSHF) [MIM:616803]: An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. {ECO:0000269 PubMed:22290657, ECO:0000269 PubMed:23220431, ECO:0000269 PubMed:23498568, ECO:0000269 PubMed:26111154}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for SOX5
- Genetic Association Database
- (GAD)
- 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 SOX5 Gene
Publications for SOX5 Gene
- Cloning and characterization of SOX5, a new member of the human SOX gene family. (PMID: 8812465) Wunderle VM … Goodfellow PN (Genomics 1996) 2 3 4 23
- Identification and characterization of the human long form of Sox5 (L-SOX5) gene. (PMID: 12406576) Ikeda T … Ikegawa S (Gene 2002) 3 4 23
- Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. (PMID: 26111154) Nesbitt A … Santani A (American journal of medical genetics. Part A 2015) 4 74
- Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. (PMID: 23220431) Schanze I … Zenker M (European journal of medical genetics 2013) 3 4
- Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. (PMID: 23498568) Lee RW … Batista D (Pediatric neurology 2013) 3 4
ExternalLinks
Products for SOX5 Gene
- Custom Antibody ServicesOriGene Antibodies for SOX5
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SOX5
- Origene Custom Protein Services for SOX5
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOX5
- Browse OriGene Inhibitory RNA Products For SOX5
- OriGene qPCR primer pairs for SOX5
- OriGene CRISPR knockouts for SOX5
- MG225690
- MG225691
- MR225690
- MR225690L3
- MR225690L4
- MR225691
- MR230862
- RC219387
- RC219387L1
- RC219387L2
- RC219387L3
- RC219387L4
- RC224228
- RC224228L1
- RC224228L2
- RC224228L3
- RC224228L4
- RC224271
- RC224271L3
- RC224271L4
- RC234638
- RC234836
- RG219387
- RG224228
- RG224271
- RG234638
- RG234836
- RR217186
- MR225690L3V
- MR225690L4V
- RC219387L1V
- RC219387L2V
- RC219387L3V
- RC219387L4V
- RC224228L1V
- RC224228L2V
- RC224228L3V
- RC224228L4V
- RC224271L3V
- RC224271L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SOX5
- Sino Biological Human cDNA Clone for SOX5
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 SOX5
- Novus Biologicals proteins and lysates for SOX5
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SOX5
- Abcam proteins for SOX5
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SOX5 (AFLGC-SOX5)
- VectorBuilder Custom and pre-made DNA vectors for SOX5 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SOX5 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SOX5 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SOX5 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SOX5
- Addgene plasmids for SOX5
- antibodies-online: Show 13 available SOX5 Antibodies ranked by validation data
- antibodies-online: Show 3 available SOX5 Elisa Kits ranked by validation data
- Compare Top SOX5 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available SOX5 Proteins ranked by validation data
- Compare Top SOX5 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for SOX5
- Search Santa Cruz Biotechnology (SCBT) for SOX5 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SOX5
- Horizon Cell Lines for SOX5
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOX5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOX5
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SOX5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX5
Sources for SOX5 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (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) MedlinePlus Genetics
- (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) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB