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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet ... See more...

Aliases for SOX13 Gene

Aliases for SOX13 Gene

  • SRY-Box Transcription Factor 13 2 3 5
  • SRY (Sex Determining Region Y)-Box 13 2 3 4
  • Type 1 Diabetes Autoantigen ICA12 3 4
  • SRY-Related HMG-Box Gene 13 2 3
  • Transcription Factor SOX-13 3 4
  • Islet Cell Antibody 12 2 3
  • Islet Cell Antigen 12 3 4
  • SRY-Box 13 2 3
  • Sox-13 2 3
  • ICA12 2 3
  • Type 1 Diabetes Autoantigen 2
  • MGC117216 2
  • SOX13 5

External Ids for SOX13 Gene

Previous GeneCards Identifiers for SOX13 Gene

  • GC01P201766
  • GC01P199503
  • GC01P200402
  • GC01P201259
  • GC01P201219
  • GC01P200774
  • GC01P202308
  • GC01P204043
  • GC01P175207

Summaries for SOX13 Gene

Entrez Gene Summary for SOX13 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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX13 Gene

SOX13 (SRY-Box Transcription Factor 13) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SOX5.

UniProtKB/Swiss-Prot Summary for SOX13 Gene

  • Transcription factor that binds to DNA at the consensus sequence 5'-AACAAT-3' (PubMed:10871192). Binds to the proximal promoter region of the myelin protein MPZ gene, and may thereby be involved in the differentiation of oligodendroglia in the developing spinal tube (By similarity). Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity). Binds to and modifies the activity of TCF7/TCF1, thereby inhibiting transcription and modulates normal gamma-delta T-cell development and differentiation of IL17A expressing gamma-delta T-cells (By similarity). Regulates expression of BLK in the differentiation of IL17A expressing gamma-delta T-cells (By similarity). Promotes brown adipocyte differentiation (By similarity). Inhibitor of WNT signaling (PubMed:20028982).

Gene Wiki entry for SOX13 Gene

Additional gene information for SOX13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX13 Gene

Genomics for SOX13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SOX13 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 SOX13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX13

Top Transcription factor binding sites by QIAGEN in the SOX13 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • IRF-7A
  • RREB-1
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • ZID

Genomic Locations for SOX13 Gene

Genomic Locations for SOX13 Gene
chr1:204,073,096-204,127,743
(GRCh38/hg38)
Size:
54,648 bases
Orientation:
Plus strand
chr1:204,042,243-204,096,871
(GRCh37/hg19)
Size:
54,629 bases
Orientation:
Plus strand

Genomic View for SOX13 Gene

Genes around SOX13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX13 Gene

Proteins for SOX13 Gene

  • Protein details for SOX13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN79-SOX13_HUMAN
    Recommended name:
    Transcription factor SOX-13
    Protein Accession:
    Q9UN79
    Secondary Accessions:
    • B4E2B0
    • O95275
    • O95826
    • Q3KQV7
    • Q5SXX1
    • Q9UHW7

    Protein attributes for SOX13 Gene

    Size:
    622 amino acids
    Molecular mass:
    69228 Da
    Quaternary structure:
    • Homodimer; homodimerization reduces DNA binding efficiency (PubMed:10871192). Interacts with TCF7/TCF1 long isoform (via N-terminus); inhibits WNT-mediated transcriptional activity (PubMed:17218525, PubMed:20028982). Interacts with HHEX (via N-terminus); abolishes the SOX13-mediated inhibition of WNT-mediated transcriptional activity via competitive inhibition of the SOX13-TCF7 complex (PubMed:20028982).
    SequenceCaution:
    • Sequence=AAC83687.1; Type=Miscellaneous discrepancy; Note=Several frameshifts.; Evidence={ECO:0000305}; Sequence=AAF23875.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG65072.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SOX13 Gene

Post-translational modifications for SOX13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX13 Gene

No data available for DME Specific Peptides for SOX13 Gene

Domains & Families for SOX13 Gene

Gene Families for SOX13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX13 Gene

GenScript: Design optimal peptide antigens:
  • SRY (Sex determining region Y)-box 13 (Q5SXX2_HUMAN)
  • Type 1 diabetes autoantigen ICA12 (SOX13_HUMAN)
genes like me logo Genes that share domains with SOX13: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX13 Gene

Function for SOX13 Gene

Molecular function for SOX13 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds to DNA at the consensus sequence 5'-AACAAT-3' (PubMed:10871192). Binds to the proximal promoter region of the myelin protein MPZ gene, and may thereby be involved in the differentiation of oligodendroglia in the developing spinal tube (By similarity). Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity). Binds to and modifies the activity of TCF7/TCF1, thereby inhibiting transcription and modulates normal gamma-delta T-cell development and differentiation of IL17A expressing gamma-delta T-cells (By similarity). Regulates expression of BLK in the differentiation of IL17A expressing gamma-delta T-cells (By similarity). Promotes brown adipocyte differentiation (By similarity). Inhibitor of WNT signaling (PubMed:20028982).
GENATLAS Biochemistry:
SRY related HMB box gene 13,highly expressed in fetal kidney,lung,liver,with cow expression from thymus,spleen and muscle,modulator of LINE retroposons promoter activity

Phenotypes From GWAS Catalog for SOX13 Gene

Gene Ontology (GO) - Molecular Function for SOX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 26525805
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001217 bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding ISS --
GO:0003677 DNA binding IEA,IDA 10871192
genes like me logo Genes that share ontologies with SOX13: view
genes like me logo Genes that share phenotypes with SOX13: view

Animal Models for SOX13 Gene

MGI Knock Outs for SOX13:
  • Sox13 Sox13<tm1Jskg>
  • Sox13 Sox13<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for SOX13 Gene

miRTarBase miRNAs that target SOX13

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOX13 Gene

Localization for SOX13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX13 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX13 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SOX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 10871192
genes like me logo Genes that share ontologies with SOX13: view

Pathways & Interactions for SOX13 Gene

genes like me logo Genes that share pathways with SOX13: view

Pathways by source for SOX13 Gene

1 Qiagen pathway for SOX13 Gene
  • Molecular Mechanisms of Cancer

Gene Ontology (GO) - Biological Process for SOX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0009653 anatomical structure morphogenesis TAS 10198172
GO:0021529 spinal cord oligodendrocyte cell differentiation ISS --
GO:0042492 gamma-delta T cell differentiation ISS --
GO:0045165 cell fate commitment IBA 21873635
genes like me logo Genes that share ontologies with SOX13: view

No data available for SIGNOR curated interactions for SOX13 Gene

Drugs & Compounds for SOX13 Gene

(1) Drugs for SOX13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SOX13: view

Transcripts for SOX13 Gene

mRNA/cDNA for SOX13 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX13

Alternative Splicing Database (ASD) splice patterns (SP) for SOX13 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for SOX13 Gene

GeneLoc Exon Structure for
SOX13

Expression for SOX13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOX13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SOX13 Gene

This gene is overexpressed in Placenta (44.4) and Platelet (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX13 Gene



Protein tissue co-expression partners for SOX13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX13

SOURCE GeneReport for Unigene cluster for SOX13 Gene:

Hs.201671

mRNA Expression by UniProt/SwissProt for SOX13 Gene:

Q9UN79-SOX13_HUMAN
Tissue specificity: Expressed in exocrine cells and islets of Langerhans in the pancreas (at protein level) (PubMed:10871192). Expressed in the pancreas, placenta, kidney, brain, heart, lung, and liver (PubMed:10871192, PubMed:20028982). Expressed in adipose tissue, cervix, colon, esophagus, ovary, prostate, small intestine, spleen, testicle, thymus and thyroid (PubMed:20028982).

Evidence on tissue expression from TISSUES for SOX13 Gene

  • Kidney(4.4)
  • Pancreas(4.4)
  • Nervous system(2.8)
  • Skin(2.3)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SOX13: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX13 Gene

Orthologs for SOX13 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SOX13 30 31
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SOX13 30 31
  • 89.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SOX13 30 31
  • 88.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sox13 30
  • 88.13 (n)
Mouse
(Mus musculus)
Mammalia Sox13 30 17 31
  • 87.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SOX13 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SOX13 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SOX13 30 31
  • 77.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SOX13 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sox13 30
  • 63.52 (n)
Str.11026 30
African clawed frog
(Xenopus laevis)
Amphibia xSox12 30
Zebrafish
(Danio rerio)
Actinopterygii AL929022.1 31
  • 50 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Sox102F 31 32
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea egl-13 31 32
  • 30 (a)
OneToMany
Species where no ortholog for SOX13 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)
  • 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 SOX13 Gene

ENSEMBL:
Gene Tree for SOX13 (if available)
TreeFam:
Gene Tree for SOX13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOX13: view image

Paralogs for SOX13 Gene

(2) SIMAP similar genes for SOX13 Gene using alignment to 4 proteins:

  • SOX13_HUMAN
  • E9PKD6_HUMAN
  • E9PPW0_HUMAN
  • H0YDQ5_HUMAN
genes like me logo Genes that share paralogs with SOX13: view

Variants for SOX13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX13 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34758764 - p.Pro532Ser

Additional dbSNP identifiers (rs#s) for SOX13 Gene

Variation tolerance for SOX13 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOX13 Gene

Human Gene Mutation Database (HGMD)
SOX13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX13

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SOX13 Gene

Disorders for SOX13 Gene

UniProtKB/Swiss-Prot

SOX13_HUMAN
  • Note=Autoantibodies against SOX13 are present in sera from patients with type 1 diabetes. {ECO:0000269 PubMed:10871192}.

Additional Disease Information for SOX13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for SOX13 Gene.

No data available for MalaCards and Genatlas for SOX13 Gene

Publications for SOX13 Gene

  1. Sex-determining region Y-related protein SOX13 is a diabetes autoantigen expressed in pancreatic islets. (PMID: 10871192) Kasimiotis H … Harley VR (Diabetes 2000) 3 4 23
  2. The Sox-13 gene: structure, promoter characterization, and chromosomal localization. (PMID: 10198172) Roose J … Clevers H (Genomics 1999) 2 3 23
  3. Interaction between Hhex and SOX13 modulates Wnt/TCF activity. (PMID: 20028982) Marfil V … Bort R (The Journal of biological chemistry 2010) 3 4
  4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  5. Regulation of gammadelta versus alphabeta T lymphocyte differentiation by the transcription factor SOX13. (PMID: 17218525) Melichar HJ … Kang J (Science (New York, N.Y.) 2007) 3 4

Products for SOX13 Gene

Sources for SOX13 Gene