This locus, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents a conserved genomic element that can function as an enhancer. It can activate a minimal Hsp68 promoter coupled to a reporter gene in the otic vesicle, forebrain, branchial arch and limb of transgenic mice, or a minimal E1b promoter in the otic vesicle, forebrain a... See more...

Aliases for LOC110121296 Gene

Aliases for LOC110121296 Gene

  • EDlx#23 Enhancer In SHFM1 Region 3
  • VISTA Enhancer Hs2313 3

External Ids for LOC110121296 Gene

Summaries for LOC110121296 Gene

Entrez Gene Summary for LOC110121296 Gene

  • This locus, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents a conserved genomic element that can function as an enhancer. It can activate a minimal Hsp68 promoter coupled to a reporter gene in the otic vesicle, forebrain, branchial arch and limb of transgenic mice, or a minimal E1b promoter in the otic vesicle, forebrain and pectoral fin of transgenic zebrafish. This enhancer is removed in some deletions associated with limb malformations, hearing loss and craniofacial defects. [provided by RefSeq, May 2019]

GeneCards Summary for LOC110121296 Gene

LOC110121296 (EDlx#23 Enhancer In SHFM1 Region) is a Biological Region gene.

Additional gene information for LOC110121296 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 LOC110121296 Gene

Genomics for LOC110121296 Gene

Genomic Locations for LOC110121296 Gene

Genomic Locations for LOC110121296 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110121296 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110121296 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110121296 Gene

Proteins for LOC110121296 Gene

Post-translational modifications for LOC110121296 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110121296 Gene

Domains & Families for LOC110121296 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110121296 Gene

Function for LOC110121296 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 LOC110121296 Gene

Localization for LOC110121296 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 LOC110121296 Gene

Pathways & Interactions for LOC110121296 Gene

PathCards logo

SuperPathways for LOC110121296 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110121296 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110121296 Gene

Drugs & Compounds for LOC110121296 Gene

No Compound Related Data Available

Transcripts for LOC110121296 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110121296 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110121296 Gene

Expression for LOC110121296 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 LOC110121296 Gene

Orthologs for LOC110121296 Gene

No data available for Orthologs and Evolution for LOC110121296 Gene

Paralogs for LOC110121296 Gene

No data available for Paralogs for LOC110121296 Gene

Variants for LOC110121296 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 LOC110121296 Gene

Disorders for LOC110121296 Gene

No disorders were found for LOC110121296 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110121296 Gene

Publications for LOC110121296 Gene

  1. 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
  2. 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
  3. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. (PMID: 22914741) Birnbaum RY … Ahituv N (Human molecular genetics 2012) 3 54
  4. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. (PMID: 20808887) Kouwenhoven EN … Zhou H (PLoS genetics 2010) 3 54
  5. Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (PMID: 19401716) van Silfhout AT … van Ravenswaaij-Arts CM (European journal of human genetics : EJHG 2009) 3 54

No data available for Mastermind for LOC110121296 Gene

Products for LOC110121296 Gene

Sources for LOC110121296 Gene