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    Dlx5 distal-less homeobox 5 [ Mus musculus (house mouse) ]

    Gene ID: 13395, updated on 5-Nov-2024

    Summary

    Official Symbol
    Dlx5provided by MGI
    Official Full Name
    distal-less homeobox 5provided by MGI
    Primary source
    MGI:MGI:101926
    See related
    Ensembl:ENSMUSG00000029755 AllianceGenome:MGI:101926
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including BMP signaling pathway; endochondral ossification; and osteoblast differentiation. Acts upstream of or within several processes, including embryonic morphogenesis; neuron differentiation; and regulation of gene expression. Located in chromatin; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; nervous system; and sensory organ. Used to study split hand-foot malformation 1. Human ortholog(s) of this gene implicated in split hand-foot malformation 1 and split hand-foot malformation 1 with sensorineural hearing loss. Orthologous to human DLX5 (distal-less homeobox 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 4.1), CNS E14 (RPKM 4.0) and 8 other tissues See more
    Orthologs
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    Genomic context

    See Dlx5 in Genome Data Viewer
    Location:
    6 A1; 6 2.83 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (6877801..6882068, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (6877801..6882068, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34871 Neighboring gene STARR-seq mESC enhancer starr_15087 Neighboring gene distal-less homeobox 6, opposite strand 1 Neighboring gene distal-less homeobox 6, opposite strand 2 Neighboring gene distal-less homeobox 6 Neighboring gene predicted gene, 53323 Neighboring gene predicted gene, 22155

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within anatomical structure formation involved in morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in embryonic skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epithelial cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within head development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within interneuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within olfactory bulb interneuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within olfactory pit development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within roof of mouth development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010056.3NP_034186.2  homeobox protein DLX-5 isoform 1

      See identical proteins and their annotated locations for NP_034186.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF033011, AF072452, U67840
      Consensus CDS
      CCDS19905.1
      UniProtKB/Swiss-Prot
      O54876, O54877, O54878, P70396, Q9JJ45
      UniProtKB/TrEMBL
      Q3TYA7
      Related
      ENSMUSP00000052559.9, ENSMUST00000052609.9
      Conserved Domains (2) summary
      pfam00046
      Location:140194
      Homeobox; Homeobox domain
      pfam12413
      Location:32118
      DLL_N; Homeobox protein distal-less-like N terminal
    2. NM_198854.2NP_942151.1  homeobox protein DLX-5 isoform 2

      See identical proteins and their annotated locations for NP_942151.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF072453, U67840
      Consensus CDS
      CCDS59691.1
      UniProtKB/TrEMBL
      Q3TZ43
      Related
      ENSMUSP00000138264.2, ENSMUST00000142635.2
      Conserved Domains (1) summary
      pfam12413
      Location:32118
      DLL_N; Homeobox protein distal-less-like N terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      6877801..6882068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504980.4XP_006505043.1  homeobox protein DLX-5 isoform X1

      See identical proteins and their annotated locations for XP_006505043.1

      Conserved Domains (1) summary
      pfam00046
      Location:4599
      Homeobox; Homeobox domain