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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]
DLX2 (Distal-Less Homeobox 2) is a Protein Coding gene. Diseases associated with DLX2 include Axenfeld-Rieger Syndrome and Dental Fluorosis. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is DLX5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Preimplantation Embryo | ||
2 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007420 | brain development | TAS | 7590232 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DLX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DLX2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dlx2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dlx2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DLX2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DLX2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DLX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dlx2 30 |
|
||
Str.9796 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.721 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dlx2a 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3918 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dll 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ceh-43 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
CSA.6494 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs149742254 | Likely Benign: not provided | 172,100,639(-) |
C/A NM_004405.4(DLX2):c.891G>T (p.Ala297=) |
SYNONYMOUS | |
rs552772556 | Benign: not provided | 172,101,552(-) |
C/A NM_004405.4(DLX2):c.495G>T (p.Ala165=) |
SYNONYMOUS | |
rs73020503 | Benign: not provided | 172,102,284(-) |
C/G NM_004405.4(DLX2):c.255G>C (p.Ala85=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
axenfeld-rieger syndrome |
|
|
dental fluorosis |
|
|
tooth agenesis |
|
|
trichodentoosseous syndrome |
|
|
syngnathia |
|
|