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This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
BARX2 (BARX Homeobox 2) is a Protein Coding gene. Diseases associated with BARX2 include Jacobsen Syndrome. Among its related pathways are 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 BARX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP | 14744868 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 14744868 |
GO:0003677 | DNA binding | IDA | 10854790 |
GO:0003682 | chromatin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Preimplantation Embryo |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001502 | cartilage condensation | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0014902 | myotube differentiation | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BARX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BARX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BARX2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Barx2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Barx2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BARX2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BARX2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BARX2 30 |
|
||
BARX2B 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | BARX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | barx2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | barx2 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34520023 | Benign: not provided | 129,451,317(+) |
G/A NM_003658.5(BARX2):c.755G>A (p.Arg252His) |
MISSENSE | |
rs61732044 | Benign: not provided | 129,437,028(+) |
G/A NM_003658.5(BARX2):c.465G>A (p.Gln155=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3579967 | CNV | loss | 25503493 |
nsv1036787 | CNV | gain | 25217958 |
nsv1046731 | CNV | gain | 25217958 |
nsv475507 | CNV | novel sequence insertion | 20440878 |
nsv546 | CNV | insertion | 18451855 |
nsv952761 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
jacobsen syndrome |
|
|