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Aliases for LOC108004546 Gene

Aliases for LOC108004546 Gene

  • Enhancer Upstream Of SOX9 3

External Ids for LOC108004546 Gene

Summaries for LOC108004546 Gene

Entrez Gene Summary for LOC108004546 Gene

  • This region contains an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located approximately 1 Mb downstream. Chromatin conformation capture evidence suggests that this sequence associates directly with the promoter of SOX9. Naturally-occurring polymorphisms in this region affect association by androgen receptor and forkhead box A1, which act to regulate the activity of this sequence. [provided by RefSeq, Jun 2016]

GeneCards Summary for LOC108004546 Gene

LOC108004546 (Enhancer Upstream Of SOX9) is a Biological Region gene.

Additional gene information for LOC108004546 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC108004546 Gene

Genomics for LOC108004546 Gene

Genomic Locations for LOC108004546 Gene

Genomic Locations for LOC108004546 Gene
chr17:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108004546 Gene

RefSeq DNA sequence for LOC108004546 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC108004546 Gene

Proteins for LOC108004546 Gene

Post-translational modifications for LOC108004546 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108004546 Gene

Domains & Families for LOC108004546 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC108004546 Gene

Function for LOC108004546 Gene

Animal Model Products

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 LOC108004546 Gene

Localization for LOC108004546 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 LOC108004546 Gene

Pathways & Interactions for LOC108004546 Gene

PathCards logo

SuperPathways for LOC108004546 Gene

No Data Available

Interacting Proteins for LOC108004546 Gene

Gene Ontology (GO) - Biological Process for LOC108004546 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC108004546 Gene

Drugs & Compounds for LOC108004546 Gene

No Compound Related Data Available

Transcripts for LOC108004546 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108004546 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108004546 Gene

Expression for LOC108004546 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 LOC108004546 Gene

Orthologs for LOC108004546 Gene

No data available for Orthologs and Evolution for LOC108004546 Gene

Paralogs for LOC108004546 Gene

No data available for Paralogs for LOC108004546 Gene

Variants for LOC108004546 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 LOC108004546 Gene

Disorders for LOC108004546 Gene

No disorders were found for LOC108004546 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108004546 Gene

Publications for LOC108004546 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 58
  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 58
  3. Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus. (PMID: 22665440) Zhang X … Lupien M (Genome research 2012) 3 58

No data available for External Links for LOC108004546 Gene

Products for LOC108004546 Gene

Sources for LOC108004546 Gene

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