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

    Gene ID: 1750, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:2919
    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
    mouse all
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    Genomic context

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    See DLX6 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (97005553..97011040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (98235210..98240696)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96634865..96640352)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 5K-Del enhancer in SHFM1 region Neighboring gene uncharacterized LOC124901703 Neighboring gene RNA, 7SL, cytoplasmic 252, pseudogene Neighboring gene DLX6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96621779-96622304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96622305-96622831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96627585-96628528 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:96630843-96631552 Neighboring gene VISTA enhancer hs298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18385 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:96650255-96651454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96653649-96654365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96655292-96655807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26299 Neighboring gene distal-less homeobox 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:96727665-96727870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26301 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:96763667-96763818 Neighboring gene succinate dehydrogenase complex assembly factor 3 Neighboring gene high mobility group box 3 pseudogene 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism. Nabi R, et al. Am J Med Genet B Neuropsychiatr Genet, 2003 May 15. PMID 12707945
    2. Long non‑coding RNA DLX6‑AS1 promotes proliferation by acting as a ceRNA targeting miR‑199a in cervical cancer. Wang X, et al. Mol Med Rep, 2019 Feb. PMID 30535431
    3. Research progress of DLX6-AS1 in human cancers. Luo Y, et al. Hum Cell, 2021 Nov. PMID 34508305
    4. The up-regulated lncRNA DLX6-AS1 in colorectal cancer promotes cell proliferation, invasion and migration via modulating PI3K/AKT/mTOR pathway. Zhang JJ, et al. Eur Rev Med Pharmacol Sci, 2019 Oct. PMID 31646562
    5. DLX6 promotes cell proliferation and survival in oral squamous cell carcinoma. Liang J, et al. Oral Dis, 2022 Jan. PMID 33215805

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Research progress of DLX6-AS1 in human cancers.
      Title: Research progress of DLX6-AS1 in human cancers.
    2. DLX6 promotes cell proliferation and survival in oral squamous cell carcinoma.
      Title: DLX6 promotes cell proliferation and survival in oral squamous cell carcinoma.
    3. Long non-coding RNA DLX6-AS1 mediates proliferation, invasion and apoptosis of endometrial cancer cells by recruiting p300/E2F1 in DLX6 promoter region.
      Title: Long non-coding RNA DLX6-AS1 mediates proliferation, invasion and apoptosis of endometrial cancer cells by recruiting p300/E2F1 in DLX6 promoter region.
    4. DLX6 Antisense RNA 1 Modulates Glucose Metabolism and Cell Growth in Gastric Cancer by Targeting microRNA-4290.
      Title: DLX6 Antisense RNA 1 Modulates Glucose Metabolism and Cell Growth in Gastric Cancer by Targeting microRNA-4290.
    5. The up-regulated lncRNA DLX6-AS1 in colorectal cancer promotes cell proliferation, invasion and migration via modulating PI3K/AKT/mTOR pathway.
      Title: The up-regulated lncRNA DLX6-AS1 in colorectal cancer promotes cell proliferation, invasion and migration via modulating PI3K/AKT/mTOR pathway.
    6. DLX6AS1 acting as a sponge for miR199a may serve a critical role in the development and progression of cervical cancer.
      Title: Long non‑coding RNA DLX6‑AS1 promotes proliferation by acting as a ceRNA targeting miR‑199a in cervical cancer.
    7. Knockdown of DLX6-AS1 inhibited cell proliferation, migration, invasion and promoted apoptosis by downregulating PRR11 expression and upregulating miR-144 in NSCLC.
      Title: Knockdown of lncRNA DLX6-AS1 inhibits cell proliferation, migration and invasion while promotes apoptosis by downregulating PRR11 expression and upregulating miR-144 in non-small cell lung cancer.
    8. The potential DLX6-AS1/miR-203a/MMP-2 pathway.
      Title: Long non-coding RNA DLX6-AS1 aggravates hepatocellular carcinoma carcinogenesis by modulating miR-203a/MMP-2 pathway.
    9. Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
      Title: Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
    10. Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted.
      Title: 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.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125282, MGC125283, MGC125284, MGC125285

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure formation involved in morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in embryonic limb morphogenesis 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in head development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_005222.4 → NP_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, ENST00000518156.3
      Conserved Domains (2) summary
      COG5576
      Location:119 → 231
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:170 → 223
      Homeobox; Homeobox domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      97005553..97011040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      98235210..98240696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56179.2 GenPept UniProtKB/Swiss-Prot:P56179

    Gene LinkOut

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