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    DLX2 distal-less homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 1746, updated on 5-Mar-2024

    Summary

    Official Symbol
    DLX2provided by HGNC
    Official Full Name
    distal-less homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:2915
    See related
    Ensembl:ENSG00000115844 MIM:126255; AllianceGenome:HGNC:2915
    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
    TES1; TES-1
    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. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See DLX2 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (172099438..172102900, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172585681..172589143, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172964166..172967628, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene methionyl aminopeptidase type 1D, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16761 Neighboring gene VISTA enhancer hs553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945060-172945588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945589-172946118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172948655-172949268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949269-172949880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949881-172950494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172950495-172951106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172951721-172952332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172952946-172953557 Neighboring gene VISTA enhancer hs422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12108 Neighboring gene distal-less homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12109 Neighboring gene DLX2 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172991525-172991701 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172996349-172997043 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172997044-172997737 Neighboring gene uncharacterized LOC105373741

    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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-01-19)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-01-19)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cerebral cortex GABAergic interneuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of photoreceptor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuroblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of amacrine cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in subpallium development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    homeobox protein DLX-2
    Names
    distal-less homeo box 2

    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_009219.1 RefSeqGene

      Range
      4851..8313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004405.4NP_004396.1  homeobox protein DLX-2

      See identical proteins and their annotated locations for NP_004396.1

      Status: REVIEWED

      Source sequence(s)
      AA912071, AC104801, BE905163
      Consensus CDS
      CCDS2248.1
      UniProtKB/Swiss-Prot
      B4DMK4, B7ZA14, Q07687
      UniProtKB/TrEMBL
      Q53QU7, X5D7D8
      Related
      ENSP00000234198.4, ENST00000234198.9
      Conserved Domains (2) summary
      pfam00046
      Location:155208
      Homeobox; Homeobox domain
      pfam12413
      Location:51132
      DLL_N; Homeobox protein distal-less-like N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      172099438..172102900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      172585681..172589143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)