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

Gene ID: 1747, updated on 21-Apr-2019

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
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

Genomic context

See DLX3 in Genome Data Viewer
Location:
17q21.33
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (49990005..49995224, complement)
105 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 RNA, U6 small nuclear 1313, pseudogene Neighboring gene distal-less homeobox 4 Neighboring gene p53 inducible cancer associated RNA transcript 1 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
odontoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 

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.

Genomic

  1. NG_023063.1 RefSeqGene

    Range
    5001..10220
    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
    O60479
    Related
    ENSP00000389870.2, ENST00000434704.2
    Conserved Domains (3) summary
    pfam00046
    Location:132185
    Homeobox; Homeobox domain
    pfam12413
    Location:27107
    DLL_N; Homeobox protein distal-less-like N terminal
    cl27820
    Location:109232
    Abdominal-A; Homeobox protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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