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Aliases for SOX5 Gene

Aliases for SOX5 Gene

  • SRY-Box 5 2 3 5
  • SRY (Sex Determining Region Y)-Box 5 2 3
  • SRY Box 5 2 3
  • L-SOX5B 3
  • L-SOX5F 3
  • L-SOX5 3
  • LAMSHF 3

External Ids for SOX5 Gene

Previous GeneCards Identifiers for SOX5 Gene

  • GC12M024046
  • GC12M023696
  • GC12M023585
  • GC12M023576

Summaries for SOX5 Gene

Entrez Gene Summary 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 5) is a Protein Coding gene. Diseases associated with SOX5 include Developmental And Speech Delay Due To Sox5 Deficiency and 12P12.1 Microdeletion Syndrome. Among its related pathways are Endochondral Ossification and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is SOX13.

UniProtKB/Swiss-Prot for SOX5 Gene

  • Binds specifically to the DNA sequence 5-AACAAT-3. Activates transcription of COL2A1 and AGC1 in vitro.

Gene Wiki entry for SOX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX5 Gene

Genomics for SOX5 Gene

Regulatory Elements for SOX5 Gene

Enhancers for SOX5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SOX5 on UCSC Golden Path with GeneCards custom track

Promoters for SOX5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOX5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOX5 Gene

23,529,495 bp from pter
24,562,669 bp from pter
1,033,175 bases
Minus strand

Genomic View for SOX5 Gene

Genes around SOX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX5 Gene

Proteins for SOX5 Gene

  • Protein details for SOX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transcription factor SOX-5
    Protein Accession:
    Secondary Accessions:
    • B7Z8V0
    • F5H5B0
    • Q86UK8
    • Q8J017
    • Q8J018
    • Q8J019
    • Q8J020
    • Q8N1D9
    • Q8N7E0
    • Q8TEA4

    Protein attributes for SOX5 Gene

    763 amino acids
    Molecular mass:
    84026 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAB49537.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SOX5 Gene


neXtProt entry for SOX5 Gene

Proteomics data for SOX5 Gene at MOPED

Post-translational modifications for SOX5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SOX5

No data available for DME Specific Peptides for SOX5 Gene

Domains & Families for SOX5 Gene

Gene Families for SOX5 Gene

Protein Domains for SOX5 Gene


Suggested Antigen Peptide Sequences for SOX5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 HMG box DNA-binding domain.
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SOX5: view

Function for SOX5 Gene

Molecular function for SOX5 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
UniProtKB/Swiss-Prot Function:
Binds specifically to the DNA sequence 5-AACAAT-3. Activates transcription of COL2A1 and AGC1 in vitro.

Gene Ontology (GO) - Molecular Function for SOX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21262861
genes like me logo Genes that share ontologies with SOX5: view
genes like me logo Genes that share phenotypes with SOX5: view

Animal Models for SOX5 Gene

MGI Knock Outs for SOX5:

Animal Model Products

Transcription Factor Targets for SOX5 Gene

Selected GeneGlobe predicted Target genes for SOX5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for SOX5 Gene

Localization for SOX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX5 Gene

Subcellular locations from

Jensen Localization Image for SOX5 Gene COMPARTMENTS Subcellular localization image for SOX5 gene
Compartment Confidence
nucleus 4
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for SOX5 Gene

Pathways & Interactions for SOX5 Gene

genes like me logo Genes that share pathways with SOX5: view

Pathways by source for SOX5 Gene

1 Qiagen pathway for SOX5 Gene

Gene Ontology (GO) - Biological Process for SOX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032332 positive regulation of chondrocyte differentiation IDA 21401405
GO:0055059 asymmetric neuroblast division IGI 23946438
GO:0061036 positive regulation of cartilage development IDA 21401405
GO:2000741 positive regulation of mesenchymal stem cell differentiation IDA 21401405
genes like me logo Genes that share ontologies with SOX5: view

No data available for SIGNOR curated interactions for SOX5 Gene

Drugs & Compounds for SOX5 Gene

No Compound Related Data Available

Transcripts for SOX5 Gene

Unigene Clusters for SOX5 Gene

SRY (sex determining region Y)-box 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOX5 Gene

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: - - - -
SP5: - - -

Relevant External Links for SOX5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOX5 Gene

mRNA expression in normal human tissues for SOX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SOX5 Gene

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, PaxDb, and MOPED for SOX5 Gene

SOURCE GeneReport for Unigene cluster for SOX5 Gene Hs.657542

genes like me logo Genes that share expression patterns with SOX5: view

Protein tissue co-expression partners for SOX5 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SOX5 Gene

Orthologs for SOX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SOX5 35
  • 95.74 (n)
  • 99.45 (a)
SOX5 36
  • 99 (a)
(Canis familiaris)
Mammalia SOX5 35
  • 95.6 (n)
  • 98.94 (a)
SOX5 36
  • 100 (a)
(Mus musculus)
Mammalia Sox5 35
  • 90.43 (n)
  • 96.99 (a)
Sox5 16
Sox5 36
  • 97 (a)
(Pan troglodytes)
Mammalia SOX5 35
  • 99.73 (n)
  • 100 (a)
SOX5 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Sox5 35
  • 89.86 (n)
  • 96.59 (a)
(Monodelphis domestica)
Mammalia SOX5 36
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
-- 36
  • 90 (a)
(Gallus gallus)
Aves SOX5 35
  • 88.97 (n)
  • 96.84 (a)
SOX5 36
  • 97 (a)
(Anolis carolinensis)
Reptilia SOX5 36
  • 94 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sox5 35
  • 77.48 (n)
  • 86.46 (a)
(Danio rerio)
Actinopterygii sox5 35
  • 71.09 (n)
  • 76.83 (a)
sox5 36
  • 76 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sox102F 37
  • 80 (a)
Sox102F 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea egl-13 37
  • 70 (a)
egl-13 36
  • 31 (a)
Species with no ortholog for SOX5:
  • A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOX5 Gene

Gene Tree for SOX5 (if available)
Gene Tree for SOX5 (if available)

Paralogs for SOX5 Gene

Paralogs for SOX5 Gene Pseudogenes for SOX5 Gene

genes like me logo Genes that share paralogs with SOX5: view

Variants for SOX5 Gene

Sequence variations from dbSNP and Humsavar for SOX5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_065754 -
rs1947815 -- 23,602,392(-) GCAGT(C/T)GCTAC intron-variant
rs1948662 -- 23,991,656(-) TAGTT(A/C)AAATT intron-variant
rs1966010 -- 23,993,912(-) TGCAT(A/G)CATAC intron-variant
rs1973564 -- 24,432,720(-) ATTCT(C/T)CTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SOX5 Gene

Variant ID Type Subtype PubMed ID
dgv91n21 CNV Gain 19592680
nsv898906 CNV Loss 21882294
nsv898907 CNV Gain+Loss 21882294
nsv898908 CNV Loss 21882294
nsv818896 CNV Gain 17921354
nsv832350 CNV Loss 17160897
nsv470276 CNV Loss 18288195
nsv898909 CNV Loss 21882294
nsv898910 CNV Loss 21882294
nsv832351 CNV Gain+Loss 17160897
esv4942 CNV Deletion 18987735
esv2745636 CNV Deletion 23290073
nsv469167 CNV Loss 19166990
esv2090158 CNV Deletion 18987734
esv2745637 CNV Deletion 23290073
nsv898911 CNV Loss 21882294
nsv826282 CNV Loss 20364138
esv3340 CNV Deletion 18987735
esv2745638 CNV Deletion 23290073
esv1006653 CNV Deletion 20482838
esv2677220 CNV Deletion 23128226
esv33613 CNV Gain 17666407
esv26543 CNV Loss 19812545
nsv898912 CNV Loss 21882294
esv2669713 CNV Deletion 23128226
nsv433520 CNV Loss 18776910
nsv525031 CNV Loss 19592680
esv269413 CNV Insertion 20981092
nsv898913 CNV Loss 21882294
nsv898914 CNV Loss 21882294
nsv518599 CNV Loss 19592680
esv1146003 CNV Insertion 17803354
esv2745639 CNV Deletion 23290073
esv34159 CNV Loss 18971310
nsv642 CNV Loss 18451855
nsv898915 CNV Loss 21882294
nsv898916 CNV Gain 21882294
nsv898917 CNV Gain 21882294
esv2745640 CNV Deletion 23290073
esv2664283 CNV Deletion 23128226
esv2745642 CNV Deletion 23290073
esv2016346 CNV Deletion 18987734
esv2745643 CNV Deletion 23290073
esv270196 CNV Insertion 20981092
nsv469168 CNV Loss 19166990
esv993084 CNV Insertion 20482838
esv1554693 CNV Insertion 17803354
esv2660296 CNV Deletion 23128226
esv2745644 CNV Deletion 23290073
esv267491 CNV Insertion 20981092
esv272487 CNV Insertion 20981092
esv2676176 CNV Deletion 23128226
esv5104 CNV Deletion 18987735
dgv197e201 CNV Deletion 23290073
esv9507 CNV Loss 19470904
nsv519893 CNV Loss 19592680
esv2745647 CNV Deletion 23290073
esv268761 CNV Insertion 20981092
esv272574 CNV Insertion 20981092
esv2422312 CNV Duplication 17116639
nsv643 CNV Insertion 18451855
nsv832352 CNV Gain 17160897
esv2745648 CNV Deletion 23290073
nsv898918 CNV Loss 21882294
esv2676317 CNV Deletion 23128226
nsv898919 CNV Gain 21882294
nsv898920 CNV Gain 21882294
nsv645 CNV Loss 18451855
nsv469169 CNV Gain 19166990

Variation tolerance for SOX5 Gene

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)

Relevant External Links for SOX5 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX5 Gene

Disorders for SOX5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SOX5 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
developmental and speech delay due to sox5 deficiency
12p12.1 microdeletion syndrome
  • del(12)(p12.1)
campomelic dysplasia
  • campomelic dysplasia with autosomal sex reversal
- elite association - COSMIC cancer census association via MalaCards
Search SOX5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SOX5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SOX5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOX5 Gene

Publications for SOX5 Gene

  1. Cloning and characterization of SOX5, a new member of the human SOX gene family. (PMID: 8812465) Wunderle V.M. … Goodfellow P.N. (Genomics 1996) 2 3 4 23 67
  2. Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation. (PMID: 11912161) Zafarana G. … Looijenga L.H. (Cancer Res. 2002) 3 23
  3. Identification and characterization of the human long form of Sox5 (L-SOX5) gene. (PMID: 12406576) Ikeda T. … Ikegawa S. (Gene 2002) 3 23
  4. Three novel fusion transcripts of the paired box 5 gene in B-cell precursor acute lymphoblastic leukemia. (PMID: 25304615) Fazio G. … Cazzaniga G. (Haematologica 2015) 3
  5. MiR-132, miR-15a and miR-16 synergistically inhibit pituitary tumor cell proliferation, invasion and migration by targeting Sox5. (PMID: 25305447) Renjie W. … Haiqian L. (Cancer Lett. 2015) 3

Products for SOX5 Gene

Sources for SOX5 Gene