This genomic region represents a conserved exonic enhancer corresponding to a 3' exon (eExon 17) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68promoter coupled to a reporter gene in anterior limb bud mesenchyme of transgenic mice. This eExon is thought to be a tissue-specific limb enhancer of the DLX5 and DLX6 (distal-less homeobox 5 an... See more...

Aliases for LOC110121293 Gene

Aliases for LOC110121293 Gene

  • EExon 17 DLX5/6 Limb Enhancer 3
  • Enhancer Exon 17 Of DYNC1I1 3
  • VISTA Enhancer Hs2309 3

External Ids for LOC110121293 Gene

Summaries for LOC110121293 Gene

Entrez Gene Summary for LOC110121293 Gene

  • This genomic region represents a conserved exonic enhancer corresponding to a 3' exon (eExon 17) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68promoter coupled to a reporter gene in anterior limb bud mesenchyme of transgenic mice. This eExon is thought to be a tissue-specific limb enhancer of the DLX5 and DLX6 (distal-less homeobox 5 and 6) genes located over 900 kb telomeric on chromosome 7q21.3. Human chromosomal deletions that remove this eExon together with the nearby DYNC1I1 eExon 15 limb enhancer are associated with split-hand/split-foot malformation (SHFM), suggesting that these eExons are critical for normal limb development. [provided by RefSeq, Apr 2019]

GeneCards Summary for LOC110121293 Gene

LOC110121293 (EExon 17 DLX5/6 Limb Enhancer) is a Biological Region gene.

Additional gene information for LOC110121293 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 LOC110121293 Gene

Genomics for LOC110121293 Gene

Genomic Locations for LOC110121293 Gene

Genomic Locations for LOC110121293 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110121293 Gene

RefSeq DNA sequence for LOC110121293 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC110121293 Gene

Proteins for LOC110121293 Gene

Post-translational modifications for LOC110121293 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110121293 Gene

Domains & Families for LOC110121293 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110121293 Gene

Function for LOC110121293 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 LOC110121293 Gene

Localization for LOC110121293 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 LOC110121293 Gene

Pathways & Interactions for LOC110121293 Gene

PathCards logo

SuperPathways for LOC110121293 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110121293 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110121293 Gene

Drugs & Compounds for LOC110121293 Gene

No Compound Related Data Available

Transcripts for LOC110121293 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110121293 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110121293 Gene

Expression for LOC110121293 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 LOC110121293 Gene

Orthologs for LOC110121293 Gene

No data available for Orthologs and Evolution for LOC110121293 Gene

Paralogs for LOC110121293 Gene

No data available for Paralogs for LOC110121293 Gene

Variants for LOC110121293 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 LOC110121293 Gene

Disorders for LOC110121293 Gene

No disorders were found for LOC110121293 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110121293 Gene

Publications for LOC110121293 Gene

  1. Exonic enhancers: proceed with caution in exome and genome sequencing studies. (PMID: 26856702) Ahituv N (Genome medicine 2016) 3 54
  2. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. (PMID: 24459211) Lango Allen H … Ellard S (Journal of medical genetics 2014) 3 54
  3. Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. (PMID: 25231166) Tayebi N … Spielmann M (Orphanet journal of rare diseases 2014) 3 54
  4. Coding exons function as tissue-specific enhancers of nearby genes. (PMID: 22442009) Birnbaum RY … Ahituv N (Genome research 2012) 3 54
  5. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. (PMID: 22914741) Birnbaum RY … Ahituv N (Human molecular genetics 2012) 3 54

No data available for Mastermind for LOC110121293 Gene

Products for LOC110121293 Gene

Sources for LOC110121293 Gene