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This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
ASXL3 (ASXL Transcriptional Regulator 3) is a Protein Coding gene. Diseases associated with ASXL3 include Bainbridge-Ropers Syndrome and Alacrima, Achalasia, And Mental Retardation Syndrome. An important paralog of this gene is ASXL2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J033577 | Promoter/Enhancer | 1.8 | Ensembl ENCODE CraniofacialAtlas | 250.7 | +1.2 | 1218 | 5.2 | ZSCAN16 ZBTB10 FEZF1 ZEB1 ZIC2 ZNF610 ZNF513 ZNF639 KLF7 ZNF341 | ASXL3 ENSG00000267642 HSALNG0120815 lnc-NOL4-3 NOL4 | |
GH18J033600 | Enhancer | 0.3 | Ensembl | 11.8 | +22.7 | 22682 | 0.6 | PRDM6 TRIM28 | ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4 | |
GH18J033575 | Enhancer | 0.3 | Ensembl | 0.7 | -2.3 | -2319 | 1.4 | SCRT1 MZF1 | ASXL3 ENSG00000267642 HSALNG0120814 CCDC178 | |
GH18J033584 | Enhancer | 0.5 | Ensembl | 0.4 | +6.8 | 6781 | 2 | SP1 PKNOX1 NANOG ZNF558 PRDM10 ZBTB20 PRDM1 ZNF10 | ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4 | |
GH18J033595 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | +18.2 | 18248 | 1.3 | ZNF366 FOS ZNF335 | ASXL3 HSALNG0120815 lnc-NOL4-3 NOL4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IBA | 21873635 |
GO:0042975 | peroxisome proliferator activated receptor binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0035517 | PR-DUB complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0009887 | animal organ morphogenesis | IBA | 21873635 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0051055 | negative regulation of lipid biosynthetic process | IDA | 25450400 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASXL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASXL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASXL3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Asxl3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASXL3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASXL3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASXL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASXL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asxl3 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Asx 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
429913 | Pathogenic/Likely Pathogenic: Bainbridge-Ropers syndrome; not provided | 33,742,954(+) |
C/T NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter) |
NONSENSE | |
858551 | Uncertain Significance: not provided | 33,683,564(+) |
G/A NM_030632.3(ASXL3):c.875G>A (p.Arg292Lys) |
MISSENSE | |
870738 | Uncertain Significance: not provided | 33,732,029(+) |
A/G NM_030632.3(ASXL3):c.941A>G (p.Tyr314Cys) |
MISSENSE | |
870739 | Uncertain Significance: not provided | 33,744,186(+) |
G/T NM_030632.3(ASXL3):c.4338G>T (p.Arg1446Ser) |
MISSENSE | |
915370 | Uncertain Significance: Bainbridge-Ropers syndrome | 33,745,427(+) |
TCATCAGTTCCGG/T NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del) |
INFRAME_DELETION |
Disorder | Aliases | PubMed IDs |
---|---|---|
bainbridge-ropers syndrome |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
disease of mental health |
|
|
sleep disorder |
|
|
asxl3-related disorder |
|
|