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    SOX13 SRY-box transcription factor 13 [ Homo sapiens (human) ]

    Gene ID: 9580, updated on 19-Sep-2024

    Summary

    Official Symbol
    SOX13provided by HGNC
    Official Full Name
    SRY-box transcription factor 13provided by HGNC
    Primary source
    HGNC:HGNC:11192
    See related
    Ensembl:ENSG00000143842 MIM:604748; AllianceGenome:HGNC:11192
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICA12; Sox-13
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 12.7), endometrium (RPKM 11.6) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SOX13 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204073115..204127743)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203337265..203391900)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204042243..204096871)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371689 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203965665-203966228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203995579-203996128 Neighboring gene long intergenic non-protein coding RNA 303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204035195-204035714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204037795-204038296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204042922-204043614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204044309-204045000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204046628-204047556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204047557-204048485 Neighboring gene Sharpr-MPRA regulatory region 2526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204051273-204052200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204056259-204056803 Neighboring gene HNF4 motif-containing MPRA enhancer 209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204076334-204077177 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204077178-204078020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204078021-204078864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204094655-204095156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204095157-204095656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204099007-204099510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204099511-204100013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100030-204100566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100567-204101102 Neighboring gene ethanolamine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204120251-204120950 Neighboring gene estrogen receptor responsive lncRNA 1 Neighboring gene REN promoter and enhancer region Neighboring gene renin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117216

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transcription factor SOX-13
    Names
    SRY (sex determining region Y)-box 13
    SRY-box 13
    SRY-related HMG-box gene 13
    islet cell antibody 12
    islet cell antigen 12
    type 1 diabetes autoantigen ICA12

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005686.3NP_005677.2  transcription factor SOX-13

      See identical proteins and their annotated locations for NP_005677.2

      Status: REVIEWED

      Source sequence(s)
      AF098915, AF116571, AL592146, BM450236, BQ216323, BQ935858
      Consensus CDS
      CCDS44299.1
      UniProtKB/Swiss-Prot
      B4E2B0, O95275, O95826, Q3KQV7, Q5SXX1, Q9UHW7, Q9UN79
      Related
      ENSP00000356172.1, ENST00000367204.6
      Conserved Domains (1) summary
      cd01388
      Location:423494
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      204073115..204127743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245623.4XP_005245680.1  transcription factor SOX-13 isoform X2

      Conserved Domains (1) summary
      cd01388
      Location:422493
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    2. XM_047435006.1XP_047290962.1  transcription factor SOX-13 isoform X1

      UniProtKB/Swiss-Prot
      B4E2B0, O95275, O95826, Q3KQV7, Q5SXX1, Q9UHW7, Q9UN79
    3. XM_047435007.1XP_047290963.1  transcription factor SOX-13 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      203337265..203391900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339717.1XP_054195692.1  transcription factor SOX-13 isoform X2

    2. XM_054339716.1XP_054195691.1  transcription factor SOX-13 isoform X1

      UniProtKB/Swiss-Prot
      B4E2B0, O95275, O95826, Q3KQV7, Q5SXX1, Q9UHW7, Q9UN79
    3. XM_054339718.1XP_054195693.1  transcription factor SOX-13 isoform X2