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

Gene ID: 1746, updated on 5-Dec-2018

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
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

Genomic context

See DLX2 in Genome Data Viewer
Location:
2q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (172099438..172102750, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172964166..172967478, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs422 Neighboring gene distal-less homeobox 1 Neighboring gene DLX2 divergent transcript 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 FunctionsWhat'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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
    Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
    5001..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
    Q07687
    UniProtKB/TrEMBL
    Q53QU7, X5D7D8
    Related
    ENSP00000234198.4, ENST00000234198.8
    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: 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_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    172099438..172102750 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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