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This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
ARID3A (AT-Rich Interaction Domain 3A) is a Protein Coding gene. Diseases associated with ARID3A include Retinitis Pigmentosa 18 and 46,Xy Sex Reversal 8. Among its related pathways are Gene Expression and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is ARID3B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0045121 | membrane raft | IDA | 21955986 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gene Expression |
.48
|
|
2 | TP53 Regulates Transcription of Cell Cycle Genes | ||
3 | Regulation of TP53 Activity | ||
4 | Direct p53 effectors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | TAS | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARID3A 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARID3A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARID3A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARID3A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arid3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arid3a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ARID3A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARID3A 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arid3a 30 |
|
||
Str.11240 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.26694 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC562799 30 |
|
||
ARID3A 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | retn 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cfi-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6971 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
727639 | Benign: not provided | 971,936(+) | C/T | SYNONYMOUS_VARIANT | |
783810 | Benign: not provided | 929,763(+) | G/A | MISSENSE_VARIANT | |
784382 | Benign: not provided | 968,475(+) | G/A | SYNONYMOUS_VARIANT | |
785596 | Benign: not provided | 966,714(+) | A/G | SYNONYMOUS_VARIANT | |
788008 | Benign: not provided | 966,831(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv134n111 | CNV | deletion | 26073780 |
esv1501734 | CNV | deletion | 17803354 |
esv2665746 | CNV | deletion | 23128226 |
esv2673891 | CNV | deletion | 23128226 |
esv2717811 | CNV | deletion | 23290073 |
esv2717812 | CNV | deletion | 23290073 |
esv2717813 | CNV | deletion | 23290073 |
esv2758743 | CNV | gain+loss | 17122850 |
esv3453 | CNV | loss | 18987735 |
esv3643377 | CNV | loss | 21293372 |
esv3643378 | CNV | loss | 21293372 |
esv3643379 | CNV | gain | 21293372 |
nsv1072834 | CNV | deletion | 25765185 |
nsv1072835 | CNV | deletion | 25765185 |
nsv1127642 | CNV | deletion | 24896259 |
nsv1160555 | CNV | deletion | 26073780 |
nsv469845 | CNV | loss | 16826518 |
nsv470101 | CNV | loss | 18288195 |
nsv578188 | CNV | loss | 21841781 |
nsv833704 | CNV | gain | 17160897 |
nsv953938 | CNV | deletion | 24416366 |
nsv9662 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 18 |
|
|
46,xy sex reversal 8 |
|
|
hypercholesterolemia, familial, 4 |
|
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46,xy sex reversal |
|
|
brain cancer |
|
|