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    DLX6 distal-less homeobox 6 [ Homo sapiens (human) ]

    Gene ID: 1750, updated on 12-Aug-2018

    Summary

    Official Symbol
    DLX6provided by HGNC
    Official Full Name
    distal-less homeobox 6provided by HGNC
    Primary source
    HGNC:HGNC:2919
    See related
    Ensembl:ENSG00000006377 MIM:600030; Vega:OTTHUMG00000154201
    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
    Summary
    This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 2.2), placenta (RPKM 2.1) and 5 other tissues See more
    Orthologs

    Genomic context

    See DLX6 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (97005978..97011040)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96635290..96640352)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 252, pseudogene Neighboring gene DLX6 antisense RNA 1 Neighboring gene VISTA enhancer hs298 Neighboring gene distal-less homeobox 5 Neighboring gene succinate dehydrogenase complex assembly factor 3 Neighboring gene high mobility group box 3 pseudogene 21

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-05-14)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-14)

    ClinGen Genome Curation Page

    Pathways from BioSystems

    • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
      MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC125282, MGC125283, MGC125284, MGC125285

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anatomical structure formation involved in morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    head development IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    homeobox protein DLX-6
    Names
    distal-less homeo box 6

    NCBI Reference Sequences (RefSeq)

    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_005222.3NP_005213.3  homeobox protein DLX-6

      See identical proteins and their annotated locations for NP_005213.3

      Status: REVIEWED

      Source sequence(s)
      AC004774, AK094086, BU616500
      Consensus CDS
      CCDS47647.2
      UniProtKB/Swiss-Prot
      P56179
      Related
      ENSP00000428480.2, OTTHUMP00000205294, ENST00000518156.2, OTTHUMT00000334373
      Conserved Domains (2) summary
      COG5576
      Location:119231
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:170223
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      97005978..97011040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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