This region represents an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located approximately 100 kb upstream. This sequence drives expression of a transgene in the developing brain. [provided by RefSeq, Jun 2016] See more...

Aliases for LOC108021842 Gene

Aliases for LOC108021842 Gene

  • SOX9 Enhancer E7 3

External Ids for LOC108021842 Gene

Previous GeneCards Identifiers for LOC108021842 Gene

  • GC17U902675

Summaries for LOC108021842 Gene

Entrez Gene Summary for LOC108021842 Gene

  • This region represents an enhancer that is thought to regulate expression of the SRY-box 9 (SOX9) gene, located approximately 100 kb upstream. This sequence drives expression of a transgene in the developing brain. [provided by RefSeq, Jun 2016]

GeneCards Summary for LOC108021842 Gene

LOC108021842 (SOX9 Enhancer E7) is a Biological Region gene. Diseases associated with LOC108021842 include Campomelic Dysplasia.

Additional gene information for LOC108021842 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 LOC108021842 Gene

Genomics for LOC108021842 Gene

Genomic Locations for LOC108021842 Gene

Genomic Locations for LOC108021842 Gene
chr17:72,219,296-72,220,434
(GRCh38/hg38)
Size:
1,139 bases
Orientation:
Plus strand

Genomic View for LOC108021842 Gene

Genes around LOC108021842 on UCSC Golden Path with GeneCards custom track

LOC108021842 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC108021842 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC108021842 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC108021842 Gene

Proteins for LOC108021842 Gene

Post-translational modifications for LOC108021842 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108021842 Gene

Domains & Families for LOC108021842 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108021842 Gene

Function for LOC108021842 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 LOC108021842 Gene

Localization for LOC108021842 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 LOC108021842 Gene

Pathways & Interactions for LOC108021842 Gene

PathCards logo

SuperPathways for LOC108021842 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC108021842 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108021842 Gene

Drugs & Compounds for LOC108021842 Gene

No Compound Related Data Available

Transcripts for LOC108021842 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108021842 Gene

No ASD Table

Relevant External Links for LOC108021842 Gene

GeneLoc Exon Structure for
LOC108021842

No data available for mRNA/cDNA for LOC108021842 Gene

Expression for LOC108021842 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 LOC108021842 Gene

Orthologs for LOC108021842 Gene

No data available for Orthologs and Evolution for LOC108021842 Gene

Paralogs for LOC108021842 Gene

No data available for Paralogs for LOC108021842 Gene

Variants for LOC108021842 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108021842 Gene

Disorders for LOC108021842 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC108021842 Gene - From: GeneCards

Disorder Aliases PubMed IDs
campomelic dysplasia
  • cmpd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108021842: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108021842 Gene

Publications for LOC108021842 Gene

  1. Long-range regulation at the SOX9 locus in development and disease. (PMID: 19473998) Gordon CT … Farlie PG (Journal of medical genetics 2009) 3
  2. Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. (PMID: 16458883) Bagheri-Fam S … Scherer G (Developmental biology 2006) 3
  3. Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions. (PMID: 11707075) Bagheri-Fam S … Pfeifer D (Genomics 2001) 3
  4. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. (PMID: 10364523) Pfeifer D … Scherer G (American journal of human genetics 1999) 3
  5. Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. (PMID: 9724758) Wunderle VM … Schedl A (Proceedings of the National Academy of Sciences of the United States of America 1998) 3

No data available for Mastermind for LOC108021842 Gene

Products for LOC108021842 Gene

Sources for LOC108021842 Gene