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    SOX9 SRY-box transcription factor 9 [ Homo sapiens (human) ]

    Gene ID: 6662, updated on 7-Apr-2024

    Summary

    Official Symbol
    SOX9provided by HGNC
    Official Full Name
    SRY-box transcription factor 9provided by HGNC
    Primary source
    HGNC:HGNC:11204
    See related
    Ensembl:ENSG00000125398 MIM:608160; AllianceGenome:HGNC:11204
    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
    CMD1; SRA1; CMPD1; SRXX2; SRXY10
    Summary
    The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 26.5), brain (RPKM 25.2) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOX9 in Genome Data Viewer
    Location:
    17q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (72121020..72126416)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (72994224..72999619)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (70117161..70122557)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723517 Neighboring gene long intergenic non-protein coding RNA 1152 Neighboring gene long intergenic non-protein coding RNA 2097 Neighboring gene SOX9 antisense RNA 1 Neighboring gene SOX9 enhancer E1 Neighboring gene SOX9 enhancer eALDI Neighboring gene TES enhancer upstream of SOX9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70113837-70114458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70115824-70116324 Neighboring gene SOX9 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:70119336-70119859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70181507-70182008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70201265-70201766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70201767-70202266 Neighboring gene SOX9 enhancer E7 Neighboring gene uncharacterized LOC124900392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12668 Neighboring gene long intergenic non-protein coding RNA 2003

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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?

    Phenotypes

    Associated conditions

    Description Tests
    Camptomelic dysplasia
    MedGen: C1861922 OMIM: 114290 GeneReviews: Campomelic Dysplasia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-05-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
    EBI GWAS Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bHLH transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables pre-mRNA intronic binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A catalytic subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in Harderian gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Sertoli cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterior head development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in astrocyte fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bronchus cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage condensation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell proliferation involved in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to BMP stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to epidermal growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to heparin ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to retinoic acid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chondrocyte hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in epithelial cell proliferation involved in prostatic bud elongation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glandular epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage chondrocyte growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hair follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart valve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart valve formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intestinal epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intestinal epithelial structure maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrahepatic bile duct development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lacrimal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung smooth muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male germ-line sex determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric nephron tubule formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of a branching epithelium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of an epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of beta-catenin-TCF complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of biomineral tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of biomineral tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of fatty acid oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of immune system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ossification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of photoreceptor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural crest cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in notochord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oligodendrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in otic vesicle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell proliferation involved in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chondrocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mesenchymal stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in prostate gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell proliferation involved in tissue homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epithelial cell proliferation involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal vesicle induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to fatty acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retinal rod cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somatic stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in trachea cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type I pneumocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureter morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureter smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureter urothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transcription factor SOX-9
    Names
    SRY (sex determining region Y)-box9
    SRY (sex-determining region Y)-box 9 protein
    SRY-box 9
    SRY-related HMG-box, gene 9

    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.

    Genomic

    1. NG_012490.1 RefSeqGene

      Range
      5001..10397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000346.4NP_000337.1  transcription factor SOX-9

      See identical proteins and their annotated locations for NP_000337.1

      Status: REVIEWED

      Source sequence(s)
      AC007461, BC007951, BC018276, Z46629
      Consensus CDS
      CCDS11689.1
      UniProtKB/Swiss-Prot
      P48436, Q53Y80
      UniProtKB/TrEMBL
      B4DI77
      Related
      ENSP00000245479.2, ENST00000245479.3
      Conserved Domains (2) summary
      cd01388
      Location:104174
      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 vertebrates, and ...
      pfam12444
      Location:2294
      Sox_N; Sox developmental protein N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      72121020..72126416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      72994224..72999619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)