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This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
MXD3 (MAX Dimerization Protein 3) is a Protein Coding gene. Diseases associated with MXD3 include Myxosarcoma and Perianal Hematoma. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is MXD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0090575 | RNA polymerase II transcription factor complex | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | MXD3 30 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | MXD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MXD3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mxd3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mxd3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MXD3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MXD3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MXD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mxd3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mxd3 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mdl-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2549 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35691394 | - | p.Gln114His |
Disorder | Aliases | PubMed IDs |
---|---|---|
myxosarcoma |
|
|
perianal hematoma |
|
|
bartholin's duct cyst |
|
|
myopathy, centronuclear, 2 |
|
|
neurofibrosarcoma |
|
|