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    DLX3 distal-less homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 1747, updated on 27-Nov-2024

    Summary

    Official Symbol
    DLX3provided by HGNC
    Official Full Name
    distal-less homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:2916
    See related
    Ensembl:ENSG00000064195 MIM:600525; AllianceGenome:HGNC:2916
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AI4; TDO
    Summary
    Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 8.6), placenta (RPKM 4.8) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DLX3 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49990005..49995224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50853145..50858364, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48067369..48072588, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12375 Neighboring gene RNA, U6 small nuclear 1313, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48048476-48049098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48049099-48049721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48053397-48053960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48053961-48054524 Neighboring gene distal-less homeobox 4 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:48061323-48061824 and GRCh37_chr17:48061825-48062324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48066497-48066998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48066999-48067498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48072293-48072875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48111925-48112721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48125618-48126247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48131902-48132428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8678 Neighboring gene p53 inducible cancer associated RNA transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48139516-48140016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48140017-48140517 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48141472-48142671 Neighboring gene integrin subunit alpha 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    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.

    Genomic

    1. NG_023063.2 RefSeqGene

      Range
      5000..10219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005220.3NP_005211.1  homeobox protein DLX-3

      See identical proteins and their annotated locations for NP_005211.1

      Status: REVIEWED

      Source sequence(s)
      AC009720
      Consensus CDS
      CCDS11556.1
      UniProtKB/Swiss-Prot
      B3KQL6, O60479
      UniProtKB/TrEMBL
      B2R870
      Related
      ENSP00000389870.2, ENST00000434704.2
      Conserved Domains (3) summary
      COG5576
      Location:109232
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:132186
      Homeobox; Homeobox domain
      pfam12413
      Location:27107
      DLL_N; Homeobox protein distal-less-like N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      49990005..49995224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50853145..50858364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)