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Aliases for SOX13 Gene

Aliases for SOX13 Gene

  • SRY-Box 13 2 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
  • Islet Cell Antibody 12 2 3
  • Islet Cell Antigen 12 3 4
  • Type 1 Diabetes Autoantigen 2
  • Transcription Factor SOX-13 3
  • SRY Box 13 2
  • Sox-13 3
  • ICA12 3

External Ids for SOX13 Gene

Previous GeneCards Identifiers for SOX13 Gene

  • GC01P201766
  • GC01P199503
  • GC01P200402
  • GC01P201259
  • GC01P201219
  • GC01P200774
  • GC01P202308
  • 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 13) is a Protein Coding gene. Among its related pathways are Signaling by Wnt and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is SOX5.

UniProtKB/Swiss-Prot for SOX13 Gene

  • Binds to the sequence 5-AACAAT-3.

Gene Wiki entry for SOX13 Gene

Additional gene information for SOX13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX13 Gene

Genomics for SOX13 Gene

Regulatory Elements for SOX13 Gene

Enhancers for SOX13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H204100 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.3 +30.5 30545 5.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZBTB7B YY1 TCF12 SOX13 LAX1 ERLNC1 ETNK2 KRT8P29 CNTN2 SNRPE PPP1R15B ENSG00000261065
GH01H203754 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -316.2 -316150 5.6 HDAC1 ATF1 YBX1 GATA2 POLR3A ZNF366 FOS ATF7 ETV6 RUNX3 SOX13 SNRPE ZC3H11A LAX1 ZBED6 MDM4 LOC102723543
GH01H203624 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -444.9 -444930 7.2 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 ZBTB7B YY1 ZNF766 ZNF302 ZC3H11A SNRPE MDM4 ZBED6 KDM5B OPTC SOX13 FMOD HNRNPA1P59 PRELP
GH01H204415 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +345.4 345411 5.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 PPP1R15B ZC3H11A MDM4 SNRPE ZBED6 PIK3C2B SOX13 PRELP
GH01H204511 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +444.0 443972 11.9 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MDM4 ZC3H11A SNRPE ZBED6 PPP1R15B PIK3C2B LOC101929459 ENSG00000236108 NFASC SNRPGP10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SOX13 on UCSC Golden Path with GeneCards custom track

Promoters for SOX13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018557 791 2601 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 DEK SP3

Genomic Locations for SOX13 Gene

Genomic Locations for SOX13 Gene
chr1:204,073,109-204,127,743
(GRCh38/hg38)
Size:
54,635 bases
Orientation:
Plus strand
chr1:204,042,243-204,096,871
(GRCh37/hg19)

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:
    No Data Available
    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}; Sequence=CAI16596.1; 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

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SOX13 Gene

Function for SOX13 Gene

Molecular function for SOX13 Gene

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
UniProtKB/Swiss-Prot Function:
Binds to the sequence 5-AACAAT-3.

Phenotypes From GWAS Catalog for SOX13 Gene

Gene Ontology (GO) - Molecular Function for SOX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10198172
GO:0005515 protein binding IPI 21988832
GO:0043565 sequence-specific DNA binding ISS --
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:

miRNA for SOX13 Gene

miRTarBase miRNAs that target SOX13

Clone Products

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

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

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:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
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

Gene Ontology (GO) - Biological Process for SOX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 10198172
GO:0045586 regulation of gamma-delta T cell differentiation IEA --
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

Unigene Clusters for SOX13 Gene

SRY (sex determining region Y)-box 13:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SOX13

Expression for SOX13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SOX13 Gene



Protein tissue co-expression partners for SOX13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX13 Gene:

SOX13

SOURCE GeneReport for Unigene cluster for SOX13 Gene:

Hs.201671

mRNA Expression by UniProt/SwissProt for SOX13 Gene:

Q9UN79-SOX13_HUMAN
Tissue specificity: Highly expressed in kidney, lung, and liver and low expression in thymus, brain, spleen, and muscle.

Evidence on tissue expression from TISSUES for SOX13 Gene

  • Pancreas(4.3)
  • Kidney(4.2)
  • Nervous system(2.2)
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 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia SOX13 33 34
  • 89.6 (n)
cow
(Bos Taurus)
Mammalia SOX13 33 34
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Sox13 33
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Sox13 33 16 34
  • 87.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SOX13 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX13 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX13 33 34
  • 77.58 (n)
lizard
(Anolis carolinensis)
Reptilia SOX13 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox13 33
  • 63.52 (n)
Str.11026 33
African clawed frog
(Xenopus laevis)
Amphibia xSox12 33
zebrafish
(Danio rerio)
Actinopterygii AL929022.1 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sox102F 35 34
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-13 35 34
  • 69 (a)
Species where no ortholog for SOX13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 SOX13 Gene

ENSEMBL:
Gene Tree for SOX13 (if available)
TreeFam:
Gene Tree for SOX13 (if available)

Paralogs for SOX13 Gene

Paralogs for SOX13 Gene

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

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

Variants for SOX13 Gene

Sequence variations from dbSNP and Humsavar for SOX13 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000091872 -- 204,112,941(+) CTCTG(C/T)CCAGC reference, missense
rs1000104109 -- 204,099,057(+) ACTGG(C/G)CCAGC intron-variant
rs1000243673 -- 204,099,459(+) GGGTC(A/T)CTGTA intron-variant
rs1000253949 -- 204,105,080(+) GCGGG(C/T)TTTGT intron-variant
rs1000394649 -- 204,118,084(+) GAATT(C/T)GAGGC intron-variant

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)

Relevant External Links for SOX13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX13

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

Relevant External Links for SOX13

Genetic Association Database (GAD)
SOX13
Human Genome Epidemiology (HuGE) Navigator
SOX13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX13

No disorders were found for SOX13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SOX13 Gene

Publications for SOX13 Gene

  1. The Sox-13 gene: structure, promoter characterization, and chromosomal localization. (PMID: 10198172) Roose J … Clevers H (Genomics 1999) 2 3 22 60
  2. 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 45 60
  3. SOX13 autoantibodies are likely to be a supplementary marker for type 1 diabetes in Korea. (PMID: 14679071) Park Y … Kim D (Annals of the New York Academy of Sciences 2003) 3 22 60
  4. Linkage studies of SOX13, the ICA12 autoantigen gene, in families with type 1 diabetes. (PMID: 11286511) Argentaro A … Harley VR (Molecular genetics and metabolism 2001) 3 22 60
  5. Sex-determining region Y-related protein SOX13 is a diabetes autoantigen expressed in pancreatic islets. (PMID: 10871192) Kasimiotis H … Harley VR (Diabetes 2000) 3 22 60

Products for SOX13 Gene

Sources for SOX13 Gene

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