This region represents an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located greater than 1 Mb downstream. This sequence is regulated by sonic hedgehog through binding by GLI family zinc finger 1. [provided by RefSeq, Jun 2016] See more...

Aliases for SOX9CRE1 Gene

Aliases for SOX9CRE1 Gene

  • SOX9 Enhancer Cre1 3

External Ids for SOX9CRE1 Gene

Summaries for SOX9CRE1 Gene

Entrez Gene Summary for SOX9CRE1 Gene

  • This region represents an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located greater than 1 Mb downstream. This sequence is regulated by sonic hedgehog through binding by GLI family zinc finger 1. [provided by RefSeq, Jun 2016]

GeneCards Summary for SOX9CRE1 Gene

SOX9CRE1 (SOX9 Enhancer Cre1) is a Biological Region gene.

Additional gene information for SOX9CRE1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX9CRE1 Gene

Genomics for SOX9CRE1 Gene

Genomic Locations for SOX9CRE1 Gene

Genomic Locations for SOX9CRE1 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for SOX9CRE1 Gene

RefSeq DNA sequence for SOX9CRE1 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for SOX9CRE1 Gene

Proteins for SOX9CRE1 Gene

Post-translational modifications for SOX9CRE1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SOX9CRE1 Gene

Domains & Families for SOX9CRE1 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX9CRE1 Gene

Function for SOX9CRE1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SOX9CRE1 Gene

Localization for SOX9CRE1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SOX9CRE1 Gene

Pathways & Interactions for SOX9CRE1 Gene

PathCards logo

SuperPathways for SOX9CRE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SOX9CRE1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SOX9CRE1 Gene

Drugs & Compounds for SOX9CRE1 Gene

No Compound Related Data Available

Transcripts for SOX9CRE1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for SOX9CRE1 Gene

No ASD Table

No data available for mRNA/cDNA for SOX9CRE1 Gene

Expression for SOX9CRE1 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX9CRE1 Gene

Orthologs for SOX9CRE1 Gene

No data available for Orthologs and Evolution for SOX9CRE1 Gene

Paralogs for SOX9CRE1 Gene

No data available for Paralogs for SOX9CRE1 Gene

Variants for SOX9CRE1 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for SOX9CRE1 Gene

Disorders for SOX9CRE1 Gene

No disorders were found for SOX9CRE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for SOX9CRE1 Gene

Publications for SOX9CRE1 Gene

  1. A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. (PMID: 26059046) Smyk M … Stankiewicz P (American journal of medical genetics. Part A 2015) 3 56
  2. Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. (PMID: 24254229) Smyk M … Stankiewicz P (Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2013) 3 56
  3. Long-range regulation at the SOX9 locus in development and disease. (PMID: 19473998) Gordon CT … Farlie PG (Journal of medical genetics 2009) 3 56
  4. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. (PMID: 17409199) Bien-Willner GA … Lupski JR (Human molecular genetics 2007) 3 56
  5. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. (PMID: 15726498) Velagaleti GV … Stankiewicz P (American journal of human genetics 2005) 3 56

No data available for External Links for SOX9CRE1 Gene

Products for SOX9CRE1 Gene

Sources for SOX9CRE1 Gene